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Disease on EC 3.2.1.52 - beta-N-acetylhexosaminidase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Aberrant Crypt Foci
Aberrant crypt foci and colon tumors in F344 rats have similar increases in proliferative activity.
Carcinoembryonic antigen in human colonic aberrant crypt foci.
Chemopreventive agents-induced regression of azoxymethane-induced aberrant crypt foci with the recovery of hexosaminidase activity.
Acidosis
Coordinately increased lysozymuria and lysosomal enzymuria induced by maleic acid.
Acidosis, Renal Tubular
Coordinately increased lysozymuria and lysosomal enzymuria induced by maleic acid.
Acidosis, Respiratory
Characterization of serum lysosomal enzymatic activities. III. Effect of infectious influenza in Egyptian equines.
Acromegaly
N-acetyl-beta-glucosaminidase and albuminuria in acromegaly.
Acute Kidney Injury
Relevance of cystatin-C, N-acetylglucosaminidase, and Interleukin-18 with the diagnosis of acute kidney injury induced by cadmium in rats.
Urinary excretion of N-acetyl-beta-D-glucosaminidase and its isoenzymes in cats with urinary disease.
Urinary N-acetyl-beta-glucosaminidase in children with acute renal failure.
Adenocarcinoma
Alteration in glycosidases from well-differentiated colorectal adenocarcinoma of rat.
Beta-hexosaminidase activities and isoenzymes in normal human ovary and ovarian adenocarcinoma.
beta-Hexosaminidase isoenzymes in tissues, cultured cells, and media from human fetal intestine and colonic adenocarcinoma.
Biochemical methods for predicting metastatic ability of prostatic cancer utilizing the dunning R-3327 rat prostatic adenocarcinoma system as a model.
Diphenyl difluoroketone: a curcumin derivative with potent in vivo anticancer activity.
Diverse mechanisms of autophagy dysregulation and their therapeutic implications: does the shoe fit?
Elevated activity of beta-hexosaminidase and sulfhydryl modification in the B-variant of human lung cancer.
N-acetyl-beta-hexosaminidase activity and isoenzymes in human gastric adenocarcinoma.
[Enzymatic studies on human carcinoma tissues,--especially, study on beta-N-acetylhexosaminidases in oral and pulmonary carcinomas]
Adenoma
The levels and subcellular distribution of hormones and marker enzymes in pituitaries from control subjects and patients with prolactinomas, acromegaly or functionless pituitary tumours.
Adenoma, Pleomorphic
Isoenzymes of N-acetyl-beta-hexosaminidase in human pleomorphic adenoma and healthy salivary glands: a preliminary study.
Aggressive Periodontitis
Amplified crevicular leukocyte activity in aggressive periodontal disease.
Albuminuria
A comparative study of three kidney biomarker tests in autosomal-dominant polycystic kidney disease.
A six-year follow-up of the relationship between N-acetyl-beta-glucosaminidase and albuminuria in relation to retinopathy.
Comparison of N-acetyl-beta-glucosaminidase and albuminuria with clinical finding of microangiopathy in type I diabetes mellitus.
Increased urinary excretion of monocyte chemoattractant protein-1 in proteinuric renal diseases.
Intravenous urography with iopamidol in children with reflux and obstructive nephropathy: effects on glomerular and tubular functions and the renin-angiotensin-aldosterone system.
N-acetyl-beta-glucosaminidase and albuminuria in acromegaly.
N-acetyl-beta-glucosaminidase and albuminuria in normal and diabetic pregnancies.
Nephrotic syndrome and aberrant expression of laminin isoforms in glomerular basement membranes for an infant with Herlitz junctional epidermolysis bullosa.
Renal involvement in Russell's viper bite patients without disseminated intravascular coagulation.
Selective increase in the urinary excretion of protein 1 (Clara cell protein) and other low molecular weight proteins during normal pregnancy.
UK Prospective Diabetes Study (UKPDS). IX: Relationships of urinary albumin and N-acetylglucosaminidase to glycaemia and hypertension at diagnosis of type 2 (non-insulin-dependent) diabetes mellitus and after 3 months diet therapy.
[Albuminuria and N-acetyl-beta-glucosaminidase activity in a prospective study of type I diabetics]
[Early diagnosis of impaired glomerular and renal tubule function in patients with acromegaly]
Alcohol-Related Disorders
Serum beta-hexosaminidase in young university students.
alpha 1-Antitrypsin Deficiency
Altered alpha-mannosidase isoenzymes in the liver in hepatic cirrhosis.
Normal exocytosis and endocytosis of lysosomal beta-hexosaminidase in a case of alpha 1-antitrypsin deficiency.
alpha-galactosidase deficiency
[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]
Alzheimer Disease
Benzo[d]thiazol-5-yl Compounds as O-GlcNAcase Inhibitors for Treating Alzheimer's Disease.
Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies.
Colocalization of lysosomal hydrolase and beta-amyloid in diffuse plaques of the cerebellum and striatum in Alzheimer's disease and Down's syndrome.
Design and Optimization of Thioglycosyl-naphthalimides as Efficient Inhibitors Against Human O-GlcNAcase.
Development of Specific Fluorogenic Substrates for Human ?-N-Acetyl-D-hexosaminidase A for Cell-Based Assays.
Discovery of MK-8719, A Potent O-GlcNAcase Inhibitor as a Potential Treatment for Tauopathies.
Diverse mechanisms of autophagy dysregulation and their therapeutic implications: does the shoe fit?
Dynamic interplay between O-glycosylation and O-phosphorylation of nucleocytoplasmic proteins: a new paradigm for metabolic control of signal transduction and transcription.
Increased O-GlcNAc levels correlate with decreased O-GlcNAcase levels in Alzheimer disease brain.
Increased O-GlcNAcylation reduces pathological tau without affecting its normal phosphorylation in a mouse model of tauopathy.
Increasing O-GlcNAc slows neurodegeneration and stabilizes tau against aggregation.
Inhibition of O-GlcNAcase (OGA): A Potential Therapeutic Target to Treat Alzheimer's Disease.
Lysosomal abnormalities in degenerating neurons link neuronal compromise to senile plaque development in Alzheimer disease.
O-GlcNAcase inhibitors as potential therapeutics for the treatment of Alzheimer's disease and related tauopathies: analysis of the patent literature.
O-GlcNAcase is essential for embryonic development and maintenance of genomic stability.
Pharmacological Inhibition of O-GlcNAcase Enhances Autophagy in Brain through an mTOR-Independent Pathway.
Real Talk: The Inter-play Between the mTOR, AMPK, and Hexosamine Biosynthetic Pathways in Cell Signaling.
Amyotrophic Lateral Sclerosis
Hexosaminidase A activity and amyotrophic lateral sclerosis.
Hexosaminidase A deficiency is an uncommon cause of a syndrome mimicking amyotrophic lateral sclerosis.
Anaphylaxis
Anti-allergic principles from Thai zedoary: structural requirements of curcuminoids for inhibition of degranulation and effect on the release of TNF-alpha and IL-4 in RBL-2H3 cells.
Antiallergic activity of ginsenoside Rh2.
Antithrombotic and antiallergic activities of daidzein, a metabolite of puerarin and daidzin produced by human intestinal microflora.
Immediate Hypersensitivity Elicits Renin Release from Cardiac Mast Cells.
Passive cutaneous anaphylaxis-inhibitory action of tectorigenin, a metabolite of tectoridin by intestinal microflora.
Rab27b regulates mast cell granule dynamics and secretion.
Structures of new beta-carboline-type alkaloids with antiallergic effects from Stellaria dichotoma(1,2).
Transgenic mice expressing the human high-affinity immunoglobulin (Ig) E receptor alpha chain respond to human IgE in mast cell degranulation and in allergic reactions.
Anemia
Decreased urinary excretion of beta-glucuronidase in sickle cell anemia in Nigeria.
Isoform patterns of lysosomal glycosidases in phenotypically different leukemic lymphoid cells.
Anemia, Aplastic
Expression of beta-hexosaminidase isozymes in peripheral lymphocytes from patients with aplastic anemia.
Anemia, Pernicious
Cytochemical detection of erythroblastic enzymes in acquired dyserythropoiesis.
Anemia, Sickle Cell
Decreased urinary excretion of beta-glucuronidase in sickle cell anemia in Nigeria.
Aortic Valve Stenosis
Cardiac O-GlcNAc signaling is increased in hypertrophy and heart failure.
Arthritis
Activity of N-acetyl-beta hexosaminidase in serum and joint fluid of the knees of patients with juvenile idiopatic arthritis.
Activity of N-acetyl-beta-hexosaminidase and its isoenzymes in serum and synovial fluid from patients with different arthropathies.
N-acetyl-beta-D-hexosaminidase system in synovial fluid.
Renal disease in chronic arthritis of childhood. A study of urinary N-acetyl-beta-glucosaminidase and beta 2-microglobulin excretion.
[Comparative study of the diagnostic value of disc electrophoresis of urinary proteins and measurement of the excretion of N-acetylglucosaminidase for the detection of renal tubule damage in chronic polyarthritis (author's transl)]
[Hexosaminidase and alkaline phosphatase in cartilage and chondrocyte cultures obtained from normal and arthritic rabbit joints]
Arthritis, Gouty
N-acetyl-beta-D-hexosaminidase system in synovial fluid.
Arthritis, Juvenile
Activity of N-acetyl-beta-hexosaminidase and its isoenzymes in serum and synovial fluid from patients with different arthropathies.
Renal disease in chronic arthritis of childhood. A study of urinary N-acetyl-beta-glucosaminidase and beta 2-microglobulin excretion.
Arthritis, Rheumatoid
Activity of lysosomal exoglycosidases in serum and synovial fluid in patients with chronic Lyme and rheumatoid arthritis.
Activity of N-acetyl-beta-hexosaminidase and its isoenzymes in serum and synovial fluid from patients with different arthropathies.
Comparative analysis of hexosaminidase and cathepsin D expression in synovial fluid of patients with rheumatoid arthritis and traumatized joints.
Fibroblast-Like Synovial Cells in Rheumatoid Arthritis--the Impact of Infliximab on Hexosaminidase Activity.
Gene expression and activity of cartilage-degrading glycosidases in human rheumatoid arthritis and osteoarthritis synovial fibroblasts.
Increased renal tubular cell excretion by patients receiving chronic therapy with gold and with nonsteroidal anti-inflammatory drugs.
Marked elevation of serum N-acetyl-beta-D-hexosaminidase activity in rheumatoid rheumatoid arthritis.
Plasma and peripheral leukocyte beta-N-acetylhexosaminidase isoenzymes and disease activity in rheumatoid arthritis.
The recently identified hexosaminidase D enzyme substantially contributes to the elevated hexosaminidase activity in rheumatoid arthritis.
[Study on mucopolysaccharides in rheumatoid arthritis, with special reference to hexosaminidase activities in the synovial fluid and serum]
[The pirymethamine influence on hexosoaminidase gene expression in synovial cell culture--preliminary report]
arylsulfatase (type i) deficiency
[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]
Asbestosis
Serum lysosomal enzyme activities in silicosis and asbestosis.
Asthma
N-Acetyl-Beta-Hexosaminidase Activity in Asthma.
Questioning Cause and Effect: Children with Severe Asthma Exhibit High Levels of Inflammatory Biomarkers Including Beta-Hexosaminidase, but Low Levels of Vitamin A and Immunoglobulins.
Asymptomatic Infections
Use of California Mastitis Test, N-acetyl-beta-glucosaminidase, and antitrypsin to diagnose caprine subclinical mastitis.
Ataxia
Lysosomal enzymes in ataxia: discovery of two new cases of late onset hexosaminidase A and B deficiency (adult Sandhoff disease) in French Canadians.
Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: juvenile Sandhoff disease.
Atherosclerosis
Arterial prostaglandins and lysosomal function during atherogenesis. II. Isolated cells of diet-induced atherosclerotic aortas of rabbit.
Serum beta-hexosaminidase isoenzymes are related to risk factors for atherosclerosis in a large population of postmenopausal women.
Autoimmune Diseases
Amyotrophic lateral sclerosis: concepts in pathogenesis and etiology.
Azoospermia
Fluorimetric determination of activity and isoenzyme composition of N-acetyl-beta-D-hexosaminidase in seminal plasma of fertile men and infertile patients with secretory azoospermia.
Seminal plasma hexosaminidase in patients with normal and abnormal spermograms.
Thermodynamic study of beta-N-acetylhexosaminidase enzyme heterogeneity in human seminal plasma.
Bacterial Infections
Anionic amino acids support hydrolysis of poly-?-(1,6)-N-acetylglucosamine exopolysaccharides by the biofilm dispersing glycosidase Dispersin B.
Bacteriuria
Urinary excretion of beta-hexosaminidase in patients with vesico-ureteric reflux.
beta-glucosidase deficiency
[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]
beta-Mannosidosis
Molecular cloning and structural organization of the gene encoding the mouse lysosomal di-N-acetylchitobiase (ctbs).
beta-n-acetylhexosaminidase deficiency
'Cherry red spot' in a patient with Tay-Sachs disease: case report.
A case of GM2-gangliosidosis with total hexosaminidase deficiency.
A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease C (MPS III C).
A new juvenile hexosaminidase deficiency disease presenting as cerebellar ataxia. Clinical and biochemical studies.
Absence of hexosaminidase A and B in a normal adult.
Adult onset motor neuronopathy in the juvenile type of hexosaminidase A and B deficiency.
Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome.
Adult-onset GM2 gangliosidosis diagnosed in a fetus.
Amyotrophic lateral sclerosis: concepts in pathogenesis and etiology.
An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia.
Apparent hexosaminidase B deficiency in two healthy members of a pedigree.
Bicistronic lentiviral vector corrects beta-hexosaminidase deficiency in transduced and cross-corrected human Sandhoff fibroblasts.
Biochemical and molecular aspects of late-onset GM2-gangliosidosis: B1 variant as a prototype.
Brain dysfunction in an adolescent with the neuromuscular form of hexosaminidase deficiency.
Capillary electrophoresis and off-line capillary electrophoresis-electrospray ionization quadrupole time-of-flight tandem mass spectrometry of carbohydrates.
Capillary electrophoresis-mass spectrometry for glycoscreening in biomedical research.
cDNA clone for the alpha-chain of human beta-hexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts.
Clinical and genetic variations in the syndrome of adult GM2 gangliosidosis resulting from hexosaminidase A deficiency.
Conditional expression of human ß-hexosaminidase in the neurons of Sandhoff disease rescues mice from neurodegeneration but not neuroinflammation.
Coupling of fully automated chip electrospray to Fourier transform ion cyclotron resonance mass spectrometry for high-performance glycoscreening and sequencing.
Diarrhea and autonomic dysfunction in a patient with hexosaminidase B deficiency (Sandhoff disease).
Discovery of beta-hexosaminidase A deficiency in Tay-Sachs disease.
Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease.
Effects of antisera raised against native and denatured human alpha-glucosidase and beta-hexosaminidases on native enzyme activity.
Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency.
Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program.
Ganglioside GM2 storage diseases: hexosaminidase deficiencies in cultured fibroblasts.
Gangliosidosis with total hexosaminidase deficiency: clinical, biochemical and ultrastructural studies and comparison with conventional cases of Tay-Sachs disease.
Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes.
Generalized accumulation of neutral glycosphingolipids with G M2 ganglioside accumulation in the brain.
Genetic heterogeneity of the hexosaminidase deficiency diseases.
Genetic variants of hexosaminidase deficiency.
GM2 ganglioside lysosomal storage disease in cats with beta-hexosaminidase deficiency.
GM2 gangliosidosis with a motor neuron disease phenotype: clinical heterogeneity of hexosaminidase deficiency disease.
GM2-ganglioside metabolism in hexosaminidase A deficiency states: determination in situ using labeled GM2 added to fibroblast cultures.
Gm2-gangliosidosis with total hexosaminidase deficiency.
Hexosaminidase A activity and amyotrophic lateral sclerosis.
Hexosaminidase A deficiency in adults.
Hexosaminidase A deficiency is an uncommon cause of a syndrome mimicking amyotrophic lateral sclerosis.
Hexosaminidase A deficiency manifesting as spinal muscular atrophy of late onset.
Hexosaminidase A deficiency presenting as juvenile progressive dystonia.
Hexosaminidase assays.
Hexosaminidase deficiency: a cause of recessively inherited motor neuron diseases.
High frequency of beta-hexosaminidase deficiency in lymphoblastoid cell lines.
I. Abnormalities in cells of the testis, efferent ducts, and epididymis in juvenile and adult mice with beta-hexosaminidase A and B deficiency.
II. Characterization and development of the regional- and cellular-specific abnormalities in the epididymis of mice with beta-hexosaminidase A deficiency.
Inheritance of the enzyme defect in a new hexosaminidase deficiency disease.
Juvenile Sandhoff disease--nine new cases and a review of the literature.
Juvenile spinal muscular atrophy--a new hexosaminidase deficiency phenotype.
Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype.
Late onset hexosaminidase A deficiency in a young adult.
Late-onset hexosaminidase A and hexosaminidase A and B deficiency: family study and review.
Late-onset hexosaminidase A deficiency mimicking primary lateral sclerosis.
Late-onset Tay-Sachs disease presenting as catatonic schizophrenia: diagnostic and treatment issues.
Low levels of beta hexosaminidase A in healthy individuals with apparent deficiency of this enzyme.
Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.
Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.
Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease.
Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch.
Molecular genetics of beta-hexosaminidase deficiencies.
Molecular heterogeneity in lysosomal storage diseases. Alpha-fucosidase and N-acetyl-beta-D-hexosaminidase deficiency variants.
Motor neuron disease and adult hexosaminidase A deficiency in two families: evidence for multisystem degeneration.
Motor neuron diseases resulting from hexosaminidase deficiency.
Movement disorders associated with chronic GM2 gangliosidosis. Case report and review of the literature.
MRI and CT features of cerebellar degeneration.
Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.
Neuropathology of chronic GM2 gangliosidosis due to hexosaminidase A deficiency.
O-GlcNAcase deficiency suppresses skeletal myogenesis and insulin sensitivity in mice through the modulation of mitochondrial homeostasis.
Oculomotor abnormalities in chronic GM2 gangliosidosis.
Organization of the gene encoding the human beta-hexosaminidase alpha-chain.
Paul Dyken Lecture of the Southern Pediatric Neurology Society. Inherited neurodegenerative disease: the evolution of our thinking.
Post-partum psychosis in adult GM2 gangliosidosis. A case report.
Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings.
Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: juvenile Sandhoff disease.
Research progress in motor neuron diseases.
Restoration of hexosaminidase A activity in human Tay-Sachs fibroblasts via adenoviral vector-mediated gene transfer.
Reversion of the biochemical defects in murine embryonic Sandhoff neurons using a bicistronic lentiviral vector encoding hexosaminidase alpha and beta.
Sandhoff disease in a golden retriever dog.
Sheathless reverse-polarity capillary electrophoresis-electrospray-mass spectrometry for analysis of underivatized glycoconjugates.
Sialylation analysis of O-glycosylated sialylated peptides from urine of patients suffering from Schindler's disease by Fourier transform ion cyclotron resonance mass spectrometry and sustained off-resonance irradiation collision-induced dissociation.
Spinal muscular atrophy is not the result of mutations at the beta-hexosaminidase or GM2-activator locus.
Spontaneous appearance of Tay-Sachs disease in an animal model.
Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis.
Tay-Sachs and Sandhoff-Jatzkewitz diseases: complementation of hexosaminidase A deficiency by somatic cell hybridization.
Tay-Sachs disease: ultrastructural studies on cultured fibroblasts.
The beta-hexosaminidase deficiency disorders: development of a clinical paradigm in the mouse.
The clinical aspects of adult hexosaminidase deficiencies.
The clinical spectrum of hexosaminidase deficiency diseases.
The human GM2 activator protein. A substrate specific cofactor of beta-hexosaminidase A.
The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity.
The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.
The natural history of cognitive dysfunction in late-onset GM2 gangliosidosis.
Thermolabile hexosaminidase (Hex) B: diverse frequencies among Jewish communities and implication for screening of sera for Hex A deficiencies.
Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy: An ALS mimicker.
Ultrastructural pathology of dermal axons and Schwann cells in lysosomal diseases.
Unusual case of Juvenile Tay-Sachs disease.
W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.
[Amyotrophic lateral sclerosis with multiple myeloma]
[Chronic hexosaminidase A deficiency associated with pure sensory peripheral neuropathy]
[Clinical, biochemical and ultrastructural study of a case of Tay-Sachs disease with hexosaminidase deficiency]
[GM2 gangliosidosis caused by A and B hexosaminidase deficiency. Apropos of a case]
[Hexosaminidase deficiency as differential spinocerebellar diseases]
[Juvenile form of Sandhoff disease: first case reported in Argentina].
[Oligosaccharide excretion in a case of GM 2 gangliosidosis due to total N-acetylhexosaminidase deficiency]
[Spinal muscular atrophy: a hexosaminidase A deficiency phenotype]
[Tay-Sachs disease in non-Jewish infant in Israel].
[Tay-Sachs disease with hexosaminidase deficiency. Clinical, morphological and biochemical findings in a case with visceral storage of renal globosides]
[Tay-Sachs disease: a case report. Interest of ultrastructural studies of cultured skin fibroblasts (author's transl)]
[Tourettism, hemiballism and juvenile Parkinsonism: expanding the clinical spectrum of the neurodegeneration associated to pantothenate kinase deficiency (Hallervorden Spatz syndrome)]
Brain Diseases
The clinical spectrum of hexosaminidase deficiency diseases.
Breast Neoplasms
Increased N-acetyl-beta-glucosaminidase activity in primary breast carcinomas corresponds to a decrease in N-acetylglucosamine containing proteins.
Measurement of serum N-acetyl beta glucosaminidase activity in patients with breast cancer.
N-acetylglucosaminidase, myeloperoxidase and vascular endothelial growth factor serum levels in breast cancer patients.
Serum N-acetyl-beta-glucosaminidase activity in breast cancer.
Bronchopneumonia
Characterization of serum lysosomal enzymatic activities. III. Effect of infectious influenza in Egyptian equines.
Carcinogenesis
Alterations of asparagine-linked sugar chains of N-acetyl beta-D-hexosaminidase during human renal oncogenesis: a preliminary study using serial lectin affinity chromatography.
Zapotin, a phytochemical present in a Mexican fruit, prevents colon carcinogenesis.
Carcinoma
Alteration of hexosaminidase isozymes in human renal carcinoma.
Alterations of asparagine-linked sugar chains of N-acetyl beta-D-hexosaminidase during human renal oncogenesis: a preliminary study using serial lectin affinity chromatography.
beta-Hexosaminidase isozymes in human colonic carcinoma.
Carcinoembryogenic antigen and lysosomal enzymes in gastric juice as an aid in the diagnosis of gastric cancer.
Characterization of an unusual isoenzyme of N-acetyl-beta-D-hexosaminidase from a human colonic carcinoma cell line.
Elevated activity of beta-hexosaminidase and sulfhydryl modification in the B-variant of human lung cancer.
Hyper-O-GlcNAcylation induces cisplatin resistance via regulation of p53 and c-Myc in human lung carcinoma.
Inhibition of human ovarian carcinoma cell- and hexosaminidase- mediated degradation of extracellular matrix by sugar analogs.
Isoenzymes of beta-hexosaminidase from normal rat colon and colonic carcinoma.
Measurement of cell numbers by means of the endogenous enzyme hexosaminidase: applications to cell adhesion assays in endometrial and ovarian carcinoma cell lines.
Novel Hexosaminidase-Targeting Fluorescence Probe for Visualizing Human Colorectal Cancer.
Prostatic hexosaminidase activity in patients with benign prostatic hyperplasia and prostatic carcinoma.
Purification and characterization of hexosaminidase from human uterine cervical carcinoma.
Study of activities of arginase, hexosaminidase, and leucine aminopeptidase in prostate fluid.
Urinary hexosaminidase in patients with lung carcinoma.
[Enzymatic studies on human carcinoma tissues,--especially, study on beta-N-acetylhexosaminidases in oral and pulmonary carcinomas]
[N-acetyl-beta-glucosaminidase of peripheral blood lymphocytes in patients with laryngeal carcinoma]
[N-acetyl-beta-glucosaminidase, beta-glucronidase and acid phosphatase in neutrophils of patients with laryngeal carcinoma]
Carcinoma, Hepatocellular
Liver disease and serum hexosaminidase levels. Studies in a human hepatoma cell-line (Hep G2 cells).
Modification of hexosaminidase isozymes in rat hepatoma.
Serum and host liver activities of glycosidases and sialyltransferases in animals bearing transplantable tumors.
Carcinoma, Renal Cell
Alteration of hexosaminidase isozymes in human renal carcinoma.
Alterations of asparagine-linked sugar chains of N-acetyl beta-D-hexosaminidase during human renal oncogenesis: a preliminary study using serial lectin affinity chromatography.
Cardiovascular Diseases
O-GlcNAcase is essential for embryonic development and maintenance of genomic stability.
Central Nervous System Infections
Staphylococci in heifer mastitis before and after parturition.
Cerebellar Ataxia
A new juvenile hexosaminidase deficiency disease presenting as cerebellar ataxia. Clinical and biochemical studies.
Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome.
Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease).
Inheritance of the enzyme defect in a new hexosaminidase deficiency disease.
Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings.
Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: juvenile Sandhoff disease.
The clinical spectrum of hexosaminidase deficiency diseases.
Cerebral Infarction
Plasma beta-hexosaminidase isoenzymes A and B in patients with cerebral infarction.
Cholangiocarcinoma
Overexpression of O-GlcNAc-Transferase Associates with Aggressiveness of Mass-Forming Cholangiocarcinoma.
Cholelithiasis
Does laparoscopic cholecystectomy influence peri-sinusoidal cell activity?
Cholera
Interleukin 3-dependent mouse mast cells express the cholera toxin-binding acidic glycosphingolipid, ganglioside GM1, and increase their histamine content in response to toxin.
Isolation and structural characterization of N-acetyl- and N-glycolylneuraminic-acid-containing GalNAc-GD1a isomers, IV4GalNAcIV3Neu5AcII3Neu5GcGgOse4Cer and IV4GalNAcIV3Neu5GcII3Neu5AcGgOse4Cer, from bovine brain.
Pertussis but not cholera toxin inhibits the stimulated increase in actin association with the cytoskeleton in rabbit neutrophils: role of the "G proteins" in stimulus-response coupling.
Cholestasis
Beta-hexosaminidase activity in alcoholic fatty liver and in CCl4-induced liver fibrosis of the rat.
Beta-hexosaminidase in bile and plasma from patients with cholestasis.
beta-Hexosaminidase in serum from patients with cirrhosis and cholestasis.
Immunoassay of beta-hexosaminidase isoenzymes in serum in patients with raised total activities.
Immunohistochemical demonstration of beta-hexosaminidase in cirrhotic and cholestatic human livers with a monoclonal antibody.
Isoenzyme pattern of serum beta-hexosaminidase in liver disease, alcohol intoxication, and pregnancy.
Lysosomal enzymes, alkaline phosphatase, and bilirubin in plasma after bile duct transection in the rat.
Lysosomes and human liver disease: a biochemical and immunohistochemical study of beta-hexosaminidase.
Radiolabelled colloid uptake distribution and pulmonary contents and localization of lysosomal enzymes in cholestatic rats.
The effect of porta-caval shunt, ammonia infusion and alcohol administration on rat plasma beta-hexosaminidase.
Cholesteatoma
Hexosaminidase as a new potential marker for middle ear cholesteatoma.
Role of N-acetyl-beta-d-hexosaminidase in cholesteatoma tissue.
Cholesteatoma, Middle Ear
Hexosaminidase as a new potential marker for middle ear cholesteatoma.
Chondrosarcoma
Hexosaminidase inhibitors as new drug candidates for the therapy of osteoarthritis.
Chorea
[Tourettism, hemiballism and juvenile Parkinsonism: expanding the clinical spectrum of the neurodegeneration associated to pantothenate kinase deficiency (Hallervorden Spatz syndrome)]
Chronic Periodontitis
Amplified crevicular leukocyte activity in aggressive periodontal disease.
Chronic Urticaria
Assessment of autoimmunity in patients with chronic urticaria.
Colitis
Bacterial O-GlcNAcase genes abundance decreases in ulcerative colitis patients and its administration ameliorates colitis in mice.
Deficiency in intestinal epithelial O-GlcNAcylation predisposes to gut inflammation.
Colitis, Ulcerative
Bacterial O-GlcNAcase genes abundance decreases in ulcerative colitis patients and its administration ameliorates colitis in mice.
Inflammatory bowel disease and serum beta-N-acetylhexosaminidase.
Renal tubular damage: an extraintestinal manifestation of chronic inflammatory bowel disease.
Subcellular fractionation of rectal biopsy homogenates from patients with inflammatory bowel disease.
Collagen Diseases
Diagnostic value of determinations of lysosomal hydrolases in CSF of patients with neurological diseases.
Colonic Neoplasms
A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition.
Colonic aberrant crypts in azoxymethane-treated F344 rats have decreased hexosaminidase activity.
Diet, nutrition intake, and metabolism in populations at high and low risk for colon cancer. Comparison of serum hexosaminidase levels.
N-acetyl-beta-D-hexosaminidase and its isoenzymes A and B in blood serum and urine, as a potential colon cancer markers.
Specific expression of unusual GM2 ganglioside with Hanganutziu-Deicher antigen activity on human colon cancers.
Colorectal Neoplasms
beta-Hexosaminidase from colon and sera of dukes-classified colorectal cancer patients: activity levels, isozyme patterns, and kinetic properties.
N-acetyl-beta-D-hexosaminidase and its isoenzymes A and B in blood serum and urine, as a potential colon cancer markers.
Novel Hexosaminidase-Targeting Fluorescence Probe for Visualizing Human Colorectal Cancer.
Congenital Disorders of Glycosylation
beta-hexosaminidase, alpha-D-mannosidase, and beta-mannosidase expression in serum from patients with carbohydrate-deficient glycoprotein syndrome type I.
Increased expression of beta-hexosaminidase alpha chain in cultured skin fibroblasts from patients with carbohydrate-deficient glycoprotein syndrome type I.
Congenital Hypothyroidism
[The activity of N-acetyl-beta-glucosaminidase in primary congenital hypothyroidism]
Crohn Disease
Inflammatory bowel disease and serum beta-N-acetylhexosaminidase.
Renal tubular damage: an extraintestinal manifestation of chronic inflammatory bowel disease.
Subcellular fractionation of rectal biopsy homogenates from patients with inflammatory bowel disease.
Cystic Fibrosis
Acid hydrolases in sera and plasma from patients with cystic fibrosis.
Population-specific screening by mutation analysis for diseases frequent in Ashkenazi Jews.
Secretion of beta-N-acetylglucosaminidase isoenzymes by cultured cystic fibrosis fibroblasts.
Serum lysosomal hydrolases in cystic fibrosis.
Strategies to respond to polymerase chain reaction deoxyribonucleic acid amplification failure in a preimplantation genetic diagnosis program.
Susceptibility to neuraminidase of alpha-L-fucosidase and N-acetyl-beta-D-glucosaminidase of cystic fibrosis, I-cell and neuraminidase-deficient fibroblasts.
Cysts
Identification of chitin as a structural component of Giardia cysts.
Urinary beta-hexosaminidase excretion in polycystic kidney disease.
Deficiency Diseases
A new juvenile hexosaminidase deficiency disease presenting as cerebellar ataxia. Clinical and biochemical studies.
Genetic heterogeneity of the hexosaminidase deficiency diseases.
GM2 gangliosidosis with a motor neuron disease phenotype: clinical heterogeneity of hexosaminidase deficiency disease.
Inheritance of the enzyme defect in a new hexosaminidase deficiency disease.
Late-onset hexosaminidase A and hexosaminidase A and B deficiency: family study and review.
The clinical spectrum of hexosaminidase deficiency diseases.
Dehydration
Tetramer of a 21-base pair synthetic element confers seed expression and transcriptional enhancement in response to water stress and abscisic acid.
Dementia
Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies.
The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity.
Dengue
Novel five-membered iminocyclitol derivatives as selective and potent glycosidase inhibitors: new structures for antivirals and osteoarthritis.
Diabetes Complications
Changes of isoenzymes of serum N-acetyl-beta-D-glucosaminidase in relation to different types of diabetes.
Diabetes Mellitus
Analysis of MGEA5 on 10q24.1-q24.3 encoding the beta-O-linked N-acetylglucosaminidase as a candidate gene for type 2 diabetes mellitus in Pima Indians.
Association between urinary N-acetyl-beta-glucosaminidase and its isoenzyme patterns and microangiopathy in type 1 diabetes mellitus.
beta-Hexosaminidase isoenzymes A and B in middle-aged and elderly subjects: determinants of plasma levels and relation to vascular disease.
beta-N-acetyl-D-glucosaminidase isoenzymes by chromatofocusing from serum and skin in diabetes.
Comparison of N-acetyl-beta-glucosaminidase and albuminuria with clinical finding of microangiopathy in type I diabetes mellitus.
Early changes of serum N-acetyl-beta-glucosaminidase, tissue plasminogen activator and erythrocyte superoxide dismutase in relation to retinopathy in type 1 diabetes mellitus.
Effects of pentoxifylline administration on urinary N-acetyl-beta-glucosaminidase excretion in type 2 diabetic patients: a short-term, prospective, randomized study.
Human hexosaminidase isozymes: chromatographic separation as an aid to heterozygote identification.
Inactivation of bovine kidney beta-N-acetyl-D-glucosaminidase by nonenzymatic glucosylation.
Increased Glucose Availability Attenuates Myocardial Ketone Body Utilization.
N-acetyl-beta-glucosaminidase isoenzymes in serum and urine of patients with diabetes mellitus.
Plasma and urinary beta-hexosaminidase in juvenile diabetes mellitus.
Relationship of serum N-acetyl-beta-glucosaminidase activity to oxidative stress in diabetes mellitus.
Serum beta-hexosaminidase in diabetes mellitus with reference to the type of treatment.
The association between plasma beta-hexosaminidase and its isoenzyme patterns and retinopathy in type 1 diabetes mellitus.
The deficiency of N-acetyl-beta-glucosaminidase in the neutrophils of patients with diabetes mellitus.
Thirty-day experimental diabetes impairs contractility and increases fatigue resistance in rat diaphragm muscle associated with increased anti-oxidative activity.
UK Prospective Diabetes Study (UKPDS). IX: Relationships of urinary albumin and N-acetylglucosaminidase to glycaemia and hypertension at diagnosis of type 2 (non-insulin-dependent) diabetes mellitus and after 3 months diet therapy.
Urinary N-acetyl-beta-glucosaminidase activity in type I diabetes mellitus.
[Blood N-acetyl-beta-glucosaminidase activity in diabetes mellitus]
[N-acetyl-beta-glucosaminidase in the lymphocytes of patients with diabetes mellitus]
[Oxidative stress and endothelium dysfunction in diabetes mellitus type 2]
Diabetes Mellitus, Experimental
Reduction of N-acetyl-beta-glucosaminidase activity in the submaxillary glands of streptozotocin diabetic mice.
Diabetes Mellitus, Type 1
Association between urinary N-acetyl-beta-glucosaminidase and its isoenzyme patterns and microangiopathy in type 1 diabetes mellitus.
Decreased renal excretion of beta-hexosaminidase in adults with insulin-dependent diabetes mellitus and normal renal function.
Early changes of serum N-acetyl-beta-glucosaminidase, tissue plasminogen activator and erythrocyte superoxide dismutase in relation to retinopathy in type 1 diabetes mellitus.
Increased Glucose Availability Attenuates Myocardial Ketone Body Utilization.
Saliva of patients with Type 1 diabetes: effect of smoking on activity of lysosomal exoglycosidases.
The association between plasma beta-hexosaminidase and its isoenzyme patterns and retinopathy in type 1 diabetes mellitus.
Diabetes Mellitus, Type 2
Analysis of MGEA5 on 10q24.1-q24.3 encoding the beta-O-linked N-acetylglucosaminidase as a candidate gene for type 2 diabetes mellitus in Pima Indians.
Caenorhabditis elegans ortholog of a diabetes susceptibility locus: oga-1 (O-GlcNAcase) knockout impacts O-GlcNAc cycling, metabolism, and dauer.
Effects of pentoxifylline administration on urinary N-acetyl-beta-glucosaminidase excretion in type 2 diabetic patients: a short-term, prospective, randomized study.
O-GlcNAcase is essential for embryonic development and maintenance of genomic stability.
Relationship between serum 1,5-anhydroglucitol and urinary excretion of N-acetylglucosaminidase and albumin determined at onset of NIDDM with 3-year follow-up.
Urinary activity of N-acetyl-beta-glucosaminidase and progression of retinopathy in non-insulin-dependent diabetes mellitus.
Urinary N-acetyl-beta-glucosaminidase excretion in non-insulin-dependent diabetes mellitus: relation with diabetic nephropathy.
[Clinical value of urinary excretion of N-acetyl-beta-glucosaminidase in diabetic retinopathy]
Diabetic Angiopathies
Lack of relationship between beta-hexosaminidase activity and retinopathy in insulin dependent diabetics.
Diabetic Nephropathies
Plasma beta-hexosaminidase isoenzymes A and B exhibit different relations to blood glucose levels in a population of Type 1 diabetic patients.
Possible relationship between adiponectin and renal tubular injury in diabetic nephropathy.
Serum type IV collagen concentrations in diabetic patients with microangiopathy as determined by enzyme immunoassay with monoclonal antibodies.
Urinary excretion of n-acetyl-beta-D-glucosaminidase and retinol binding protein as alternative indicators of nephropathy in patients with type 1 diabetes mellitus.
Urinary L-FABP and anaemia: distinct roles of urinary markers in type 2 diabetes.
Urinary N-acetyl-beta-glucosaminidase excretion in non-insulin-dependent diabetes mellitus: relation with diabetic nephropathy.
Diabetic Retinopathy
Beta-hexosaminidase activities in tears and plasma, diphosphoglycerate in blood of diabetic patients.
Comparison of N-acetyl-beta-glucosaminidase and albuminuria with clinical finding of microangiopathy in type I diabetes mellitus.
[Clinical value of urinary excretion of N-acetyl-beta-glucosaminidase in diabetic retinopathy]
Diphtheria
Regional mapping of human genes for hexosaminidase B and diphtheria toxin sensitivity on chromosome 5 using mouse X human hybrid cells.
The site of integration of the herpes simplex virus type 1 thymidine kinase gene in human cells transformed by an HSV-1 DNA fragment.
Dirofilariasis
Evaluation of urinary enzymes in dogs with early renal disorder.
Disseminated Intravascular Coagulation
Renal involvement in Russell's viper bite patients without disseminated intravascular coagulation.
Down Syndrome
Colocalization of lysosomal hydrolase and beta-amyloid in diffuse plaques of the cerebellum and striatum in Alzheimer's disease and Down's syndrome.
Dysarthria
N-acetyl-beta-hexosaminidase beta locus defect and juvenile motor neuron disease: a case study.
Dystonia
Hexosaminidase A deficiency presenting as juvenile progressive dystonia.
Dystonia Musculorum Deformans
X-linked recessive torsion dystonia in the Philippines.
Dystonic Disorders
Elevated beta-N-acetylhexosaminidase activity in focal dystonia fibroblasts.
Encephalitis
Conditional expression of human ß-hexosaminidase in the neurons of Sandhoff disease rescues mice from neurodegeneration but not neuroinflammation.
Encephalitis, Japanese
Novel five-membered iminocyclitol derivatives as selective and potent glycosidase inhibitors: new structures for antivirals and osteoarthritis.
Endocarditis
Enzyme production by lactobacilli and the potential link with infective endocarditis.
Metabolism of glycoprotein-derived sialic acid and N-acetylglucosamine by Streptococcus oralis.
Endometriosis
Glycosidases in the peritoneal fluid from infertile women with and without endometriosis.
Enterocolitis, Necrotizing
Age dependence of serum beta-N-acetylhexosaminidase (NAG) activity.
Evaluation of hexosaminidase activity as a potential biochemical marker in serum for necrotizing enterocolitis.
Hexosaminidase: a biochemical marker for necrotizing enterocolitis in the preterm infant.
Hexosaminidase: a marker for intestinal gangrene in necrotizing enterocolitis.
Epidermolysis Bullosa
N-acetyl-beta-glucosaminidase activity in serum of patients with epidermolysis bullosa.
Epilepsy
Sandhoff's disease (type II GM2 gangliosidosis). Clinical, biochemical and ultrastructural study of a case.
Urinary excretion of N-acetyl-beta-glucosaminidase and beta-galactosidase by patients with epilepsy.
Esophageal and Gastric Varices
Pattern of serum beta-hexosaminidase in liver cirrhosis.
Esophageal Motility Disorders
Diarrhea and autonomic dysfunction in a patient with hexosaminidase B deficiency (Sandhoff disease).
Esophageal Neoplasms
[Clinical study of nephrotoxicity following cis-diamminedichloroplatinum (II) (CDDP) combination chemotherapy assessed by 131I-OIH renogram]
Esotropia
Lysosomal enzymes in ataxia: discovery of two new cases of late onset hexosaminidase A and B deficiency (adult Sandhoff disease) in French Canadians.
Essential Hypertension
Elevated serum activity of N-acetyl-beta-glucosaminidase in essential hypertension: diagnostic value and reversal to normal values after antihypertensive therapy.
Increased excretion of urinary N-acetyl-beta-glucosaminidase in essential hypertension and its decline with antihypertensive therapy.
[Enzyme activities of beta-hexosaminidase in urine from patients with renal diseases (author's transl)]
[The significance of microproteinuria for the diagnosis of kidney involvement in hypertensive disease and secondary forms of arterial hypertension]
exo-alpha-sialidase deficiency
Cell disease: desialylation of beta-hexosaminidase and its effect on uptake by fibroblasts.
Exostoses
[Primary study on glycan structure in pathopoiesis mechanism of recurrent respiratory papillomatosis]
Fabry Disease
Heterozygote detection in Fabry disease utilizing multiple enzyme activities.
Fanconi Syndrome
Coordinately increased lysozymuria and lysosomal enzymuria induced by maleic acid.
Fasciculation
Hexosaminidase A deficiency manifesting as spinal muscular atrophy of late onset.
N-acetyl-beta-hexosaminidase beta locus defect and juvenile motor neuron disease: a case study.
Fatty Liver, Alcoholic
Beta-hexosaminidase activity in alcoholic fatty liver and in CCl4-induced liver fibrosis of the rat.
Fibroadenoma
[Glycosidase activity measured in tumor tissue. The N-acetylglucosaminidase (NAFA) activity of breast fibroadenomas in relation to the stage of tumor development]
Fluorosis, Dental
Dose-effect relationship between drinking water fluoride levels and damage to liver and kidney functions in children.
Friedreich Ataxia
Lysosomal enzymes in ataxia: discovery of two new cases of late onset hexosaminidase A and B deficiency (adult Sandhoff disease) in French Canadians.
Fructose Intolerance
Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia.
Fucosidosis
Activity and multiple forms of alpha-L-fucosidase and hexosaminidase in chorion biopsy specimens and some fetal organs.
Molecular heterogeneity in lysosomal storage diseases. Alpha-fucosidase and N-acetyl-beta-D-hexosaminidase deficiency variants.
[Activity and appearance of isoenzyme spectrums of some lysosomal hydrolases in biopsy material of human chorion]
Galactosemias
Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia.
Gangliosidoses
Alpha-locus hexosaminidase genetic compound with juvenile gangliosidosis phenotype: clinical, genetic, and biochemical studies.
An inversion of 25 base pairs causes feline GM2 gangliosidosis variant.
Biochemical and molecular characterization of mutant hexosaminidase A in a Turkish family.
Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program.
Design and synthesis of 2-acetamidomethyl derivatives of isofagomine as potential inhibitors of human lysosomal beta-hexosaminidases.
Gangliosidosis with total hexosaminidase deficiency: clinical, biochemical and ultrastructural studies and comparison with conventional cases of Tay-Sachs disease.
Generalized accumulation of neutral glycosphingolipids with G M2 ganglioside accumulation in the brain.
GM2D gangliosidosis B1 variant in a boy of German/Hungarian descent.
Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis.
N-Acetyl-beta-hexosaminidase isoenzymes of amniotic fluid and maternal serum. Their relevance to prenatal diagnosis of the GM2 gangliosidoses.
Neurophysiological study in chronic GM2 gangliosidosis (hexosaminidase A and B deficiency), with motor neuron disease phenotype.
Retrovirus-mediated transfer and expression of beta-hexosaminidase alpha-chain cDNA in human fibroblasts from G(M2)-gangliosidosis B1 variant.
Tay-Sachs disease: a case report.
The biochemical genetics of the hexosaminidase system in man.
The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders.
Unusual case of Juvenile Tay-Sachs disease.
W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.
[Oligosaccharide excretion in a case of GM 2 gangliosidosis due to total N-acetylhexosaminidase deficiency]
[Studies on the molecular mechanism of GM(2) gangliosidosis]
[Tay-Sachs disease: a case report. Interest of ultrastructural studies of cultured skin fibroblasts (author's transl)]
Gangliosidoses, GM2
A family history study of schizophrenia spectrum disorders suggests new candidate genes in schizophrenia and autism.
A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype.
A nursing challenge: adult-onset Tay-Sachs disease.
A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.
A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.
AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2.
Absence of metabolic cross-correction in Tay-Sachs cells: implications for gene therapy.
Adult-onset GM2 gangliosidosis diagnosed in a fetus.
An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia.
An inducible mouse model of late onset Tay-Sachs disease.
An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants).
Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.
Benign HEXA mutations, C739T(R247W) and C745T(R249W), cause beta-hexosaminidase A pseudodeficiency by reducing the alpha-subunit protein levels.
Beta-hexosaminidase isozymes and replacement therapy in Gm2 gangliosidosis.
beta-hexosaminidase lentiviral vectors: transfer into the CNS via systemic administration.
Biochemical characterization of the Cys138Arg substitution associated with the AB variant form of GM2 gangliosidosis: evidence that Cys138 is required for the recognition of the GM2 activator/GM2 ganglioside complex by beta-hexosaminidase A.
Biology and potential strategies for the treatment of GM2 gangliosidoses.
Brain hexosaminidase and arylsulfatase isoenzymes in normal and vitamin E-deficient rats: an hypothesis for isoenzyme patterns in GM2 gangliosidoses and MLD.
Characterization of Hex S, the major residual beta hexosaminidase activity in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease).
Chromatofocusing coupled with automated assay for beta-hexosaminidase isoenzymes in GM2 gangliosidosis.
Clinical and genetic variations in the syndrome of adult GM2 gangliosidosis resulting from hexosaminidase A deficiency.
Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program.
Deficiency of the hexosaminidase A activator protein in a case of GM2 gangliosidosis; variant AB.
Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.
Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease.
Distribution of enzyme-bearing cells in GM2 gangliosidosis mice: regionally specific pattern of cellular infiltration following bone marrow transplantation.
Enzyme replacement in feline GM2 gangliosidosis: catabolic effects of human beta-hexosaminidase A.
Enzyme studies in GM2 gangliosidiosis, and their application in prenatal diagnosis.
Evidence for two different active sites on human beta-hexosaminidase A. Interaction of GM2 activator protein with beta-hexosaminidase A.
Fetal hexosaminidase A in mother's serum: pitfalls for carrier detection and prospects for prenatal diagnoses of GM2 gangliosidoses.
Frequency of hexosaminidase A variant alleles among Ashkenazi Jews and prenatal diagnosis of GM2 gangliosidosis.
Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program.
Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.
Ganglioside loading of cultured fibroblasts: a provocative method for the diagnosis of the GM2 gangliosidoses.
GM2 activator protein expression in mouse tissues.
GM2 gangliosidoses: a review of cases confirmed by beta-N-acetylhexosaminidase assay.
GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: a potential model for Tay Sachs disease.
GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A.
GM2 gangliosidosis variant 0 (Sandhoff-like disease) in a family of toy poodles.
GM2 gangliosidosis with a motor neuron disease phenotype: clinical heterogeneity of hexosaminidase deficiency disease.
GM2D gangliosidosis B1 variant in a boy of German/Hungarian descent.
Hexosaminidase A activity in skin fibroblasts from various types of GM2 gangliosidosis using a fluorogenic sulphated substrate.
Hexosaminidase activities in a case of systemic GM2 gangliosidosis of late infantile type.
Hexosaminidase assays.
Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease).
Immunochemical and biochemical investigation of hexosaminidase S.
Inefficiency in GM2 ganglioside elimination by human lysosomal beta-hexosaminidase beta-subunit gene transfer to fibroblastic cell line derived from Sandhoff disease model mice.
Intracellular degradation of sulforhodamine-GM1: use for a fluorescence-based characterization of GM2-gangliosidosis variants in fibroblasts and white blood cells.
Juvenile GM2 gangliosidosis (AMB variant): inability to activate hexosaminidase A by activator protein.
Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase.
Juvenile GM2 gangliosidosis: partial deficiency of hexosaminidase A.
Juvenile-onset spinal muscular atrophy caused by compound heterozygosity for mutations in the HEXA gene.
Late onset GM2 gangliosidosis: an alpha-locus genetic compound with near normal hexosaminidase activity.
Late-onset GM2 gangliosidosis and other hexosaminidase mutations among Jews.
Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene.
Lending a helping hand, screening chemical libraries for compounds that enhance beta-hexosaminidase A activity in GM2 gangliosidosis cells.
Lysosomal storage of oligosaccharide and glycosphingolipid in imino sugar treated cells.
Modified beta-D-N-acetylhexosaminidase isozymes for enzyme replacement in GM2 gangliosidosis.
Molecular and structural studies of the GM2 gangliosidosis 0 variant.
Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.
Molecular forms of GM2-activator protein. A study on its biosynthesis in human skin fibroblasts.
N-Acetyl-beta-hexosaminidase isoenzymes of amniotic fluid and maternal serum. Their relevance to prenatal diagnosis of the GM2 gangliosidoses.
Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminidase beta-subunit deficiency.
Neuroimaging findings of four patients with Sandhoff disease.
Neuropathology of chronic GM2 gangliosidosis due to hexosaminidase A deficiency.
Neuropsychiatric aspects of adult-onset Tay-Sachs disease: two case reports with several new findings.
Nonsense mutation of feline beta-hexosaminidase beta-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats.
Pathology of GM2 Gangliosidosis in Jacob Sheep.
Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis.
Post-partum psychosis in adult GM2 gangliosidosis. A case report.
Prenatal diagnosis of GM2 gangliosidosis with high residual hexosaminidase A activity (variant B1; pseudo AB variant).
Progressive dystonia symptomatic of juvenile GM2 gangliosidosis.
Purification and some properties of liver and brain beta-N-acetyl-hexosaminidase S.
Purification, biochemical and immunological characterisation of hexosaminidase A from variant AB of infantile GM2 gangliosidosis.
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.
Rapid nonradioactive tracer method for detecting carriers of the major Ashkenazi Jewish Tay-Sachs disease mutations.
Rare Variant of GM2 Gangliosidosis through Activator-Protein Deficiency.
Relationship of thyroid status and serum N-acetyl-beta-glucosaminidase isoenzyme activities in humans.
Retrospective diagnosis of feline GM2 gangliosidosis variant 0 (Sandhoff-like disease) in Japan: possible spread of the mutant allele in the Japanese domestic cat population.
Sandhoff's disease (type II GM2 gangliosidosis). Clinical, biochemical and ultrastructural study of a case.
Serial 1H-MRS in GM2 gangliosidoses.
Structural basis of the GM2 gangliosidosis B variant.
Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis.
Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up.
Substrate specificity of hexosaminidase A isolated from the liver of a patient with a rare form (AB variant) of infantile GM2 gangliosidosis and control tissues.
Synthesis of 4-methylumbelliferyl-beta-D-N-acetylglucosamine-6-sulfate and its use in classification of GM2 gangliosidosis genotypes.
Synthesis of a human lysosomal enzyme, beta-hexosaminidase B, using the baculovirus expression system.
Systemic Gene Transfer of a Hexosaminidase Variant Using an scAAV9.47 Vector Corrects GM2 Gangliosidosis in Sandhoff Mice.
Targeting the hexosaminidase genes: mouse models of the GM2 gangliosidoses.
The human GM2 activator protein. A substrate specific cofactor of beta-hexosaminidase A.
The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.
The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.
The pathology of feline GM2 gangliosidosis.
The specificity of human N-acetyl-beta-D-hexosaminidases towards glycosphincolipids is determined by an activator protein.
Therapeutic evaluation of GM2 gangliosidoses by ELISA using anti-GM2 ganglioside antibodies.
Thermodynamic determination of beta-hexosaminidase isoenzymes in mononuclear and polymorphonuclear leukocyte populations.
Thermodynamic determination of plasma and leukocyte beta-hexosaminidase isoenzymes in homozygote and heterozygote carriers for the GM2 gangliosidosis B1 variant.
Three novel mutations in Iranian patients with Tay-Sachs disease.
Toward enzyme therapy in Gm2 gangliosidosis: beta-hexosaminidase infusion in normal cats.
Towards enzyme replacement in GM2 gangliosidosis: organ disposition and induced central nervous system uptake of human beta-hexosaminidase in the cat.
Treatment of GM2 Gangliosidosis in Adult Sandhoff Mice using an Intravenous Self-Complementary Hexosaminidase Vector.
Western blotting analysis of the beta-hexosaminidase alpha- and beta-subunits in cultured fibroblasts from cases of various forms of GM2 gangliosidosis.
[Chronic hexosaminidase A deficiency associated with pure sensory peripheral neuropathy]
[GM2 gangliosidosis caused by A and B hexosaminidase deficiency. Apropos of a case]
[GM2 gangliosidosis diagnosis and carriers detection by fractionation of N-acetyl-beta-D-hexosaminidase by electrophoresis on cellulose acetate gel (author's transl)]
[GM2 gangliosidosis with total beta-N-acetyl-hexosaminidase deficit or Sandhoff's disease]
[Juvenile GM2 gangliosidosis with altered substrate specificity of hexosaminidase A (author's transl)]
[Juvenile GM2 gangliosidosis with progressive spinal muscular atrophy onset]
[Recent advances in molecular genetics of GM2 gangliosidosis]
[Tay-Sachs disease in non-Jewish infant in Israel].
Gangliosidosis, GM1
Bi-functional IgG-lysosomal enzyme fusion proteins for brain drug delivery.
GM1 gangliosidosis type 2 in two siblings.
The role of lysosomal sialidase and beta-galactosidase in processing the complex carbohydrate chains on lysosomal enzymes and possibly other glycoproteins.
[Tourettism, hemiballism and juvenile Parkinsonism: expanding the clinical spectrum of the neurodegeneration associated to pantothenate kinase deficiency (Hallervorden Spatz syndrome)]
Gaucher Disease
Acid hydrolases in serum from patients with lysosomal disorders.
beta-Glucosidase activities in the Norrbotten type of juvenile Gaucher's disease.
Changes of serum hexosaminidase for the presumptive diagnosis of type I Gaucher disease in Tay-Sachs carrier screening.
Design and synthesis of 4'-O-alkyl-chitobiosyl-4-methylumbelliferone as human chitinase fluorogenic substrates.
Elevation of serum beta-hexosaminidase and alpha-D-mannosidase in type 2 Gaucher disease: a clinical and biochemical study.
Heterozygote detection of type I Gaucher disease using blood platelets.
Increased lung surfactant phosphatidylcholine in patients affected by lysosomal storage diseases.
Marked variation in blood beta-hexosaminidase in Gaucher disease.
Medical conditions in Ashkenazi schizophrenic pedigrees.
Genetic Diseases, Inborn
A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.
A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.
Biology and potential strategies for the treatment of GM2 gangliosidoses.
Capillary electrophoresis and off-line capillary electrophoresis-electrospray ionization quadrupole time-of-flight tandem mass spectrometry of carbohydrates.
Dysarthria and Stutter as Presenting Symptoms of Late-Onset Tay-Sachs Disease in Three Siblings.
Identification of an altered splice site in Ashkenazi Tay-Sachs disease.
Purification, biochemical and immunological characterisation of hexosaminidase A from variant AB of infantile GM2 gangliosidosis.
Unusual thermolability properties of beta-hexosaminidase: studies of enzyme from cultured cells and clinical implications.
Gingivitis
Glycosidase activities in gingival crevicular fluid in subjects with adult periodontitis or gingivitis.
Glioma
Activity of lysosomal exoglycosidases in human gliomas.
Lysosomal isozyme patterns in ethylnitrosourea-induced brain tumors.
Glomerulonephritis
The excretion of N-acetyl-beta-glucosaminidase in glomerulonephritis.
Urinary N-acetyl-beta-glucosaminidase excretion is a marker of tubular cell dysfunction and a predictor of outcome in primary glomerulonephritis.
[The significance of microproteinuria for the diagnosis of kidney involvement in hypertensive disease and secondary forms of arterial hypertension]
Glomerulonephritis, Membranous
Beta-2-microglobulin is superior to N-acetyl-beta-glucosaminidase in predicting prognosis in idiopathic membranous nephropathy.
Glucose Intolerance
beta-N-acetyl-D-glucosaminidase isoenzymes by chromatofocusing from serum and skin in diabetes.
Hepatic glucose sensing via the CREB coactivator CRTC2.
Increased Glucose Availability Attenuates Myocardial Ketone Body Utilization.
Increased urinary excretion of N-acetylglucosaminidase in subjects with impaired glucose tolerance.
Glycogen Storage Disease Type II
[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]
Glycosuria
Urinary kidney injury molecule-1: a sensitive quantitative biomarker for early detection of kidney tubular injury.
Graves Disease
Serum lysosomal acid hydrolase activities in Graves' disease.
Hematologic Neoplasms
Beta-hexosaminidase isoenzyme I: an early marker of hematopoietic malignancy.
Hematuria
[Prevalence of chronic kidney disease (CKD) and significant contributors to CKD in HIV-infected patients]
Hemiplegia
Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: juvenile Sandhoff disease.
Hemochromatosis
Acid hydrolase activities and lysosomal integrity in liver biopsies from patients with iron overload.
[A study of lysosomal enzyme activities in serum and leukocytes in chronic hepatic disease (author's transl)]
Hemolytic-Uremic Syndrome
Prothrombotic coagulation abnormalities preceding the hemolytic-uremic syndrome.
Hepatitis
beta-Hexosaminidase level in serum from patients with viral hepatitis as a measure of reticuloendothelial function.
Molecular forms of beta-hexosaminidase and cathepsin D in serum and urine of healthy subjects and patients with elevated activity of lysosomal enzymes.
Serum beta-N-acetyl hexosaminidase (beta-NAH) as a discriminant between malignant and benign extrahepatic biliary obstruction: comparison with carcinoembryonic antigen (CEA).
The diagnostic potential of the combined determination of serum monoamine oxidase and N-acetyl-beta-D-glucosaminidase for fibroproliferative liver diseases.
[N-acetyl-beta-D-glucosaminidase and diurnal excretion of hydroxyproline in chronic viral hepatitis]
[Serum GOT, GPT, M-GOT, LDH5, N-acetyl-beta-glucosaminidase activities in children with infections hepatitis. (Clinico-biochemical classification)]
Hepatitis, Chronic
[N-acetyl-beta-D-glucosaminidase and diurnal excretion of hydroxyproline in chronic viral hepatitis]
Hepatolenticular Degeneration
X-linked recessive torsion dystonia in the Philippines.
[Tourettism, hemiballism and juvenile Parkinsonism: expanding the clinical spectrum of the neurodegeneration associated to pantothenate kinase deficiency (Hallervorden Spatz syndrome)]
Herpes Simplex
A direct gene transfer strategy via brain internal capsule reverses the biochemical defect in Tay-Sachs disease.
Herpes Zoster
Egg cortical granule N-acetylglucosaminidase is required for the mouse zona block to polyspermy.
Galactosyltransferase function during mammalian fertilization.
Involvement of sperm sulphatases in early sperm-zona interactions in the hamster.
Isolation of beta-N-acetylhexosaminidase from rabbit semen and its role in fertilization.
pH-sensitive dissociation and association of beta-N-acetylhexosaminidase from boar sperm acrosome.
Porcine sperm surface beta1,4galactosyltransferase binds to the zona pellucida but is not necessary or sufficient to mediate sperm-zona pellucida binding.
Sperm N-acetylglucosaminidase is involved in primary binding to the zona pellucida.
Sperm require beta-N-acetylglucosaminidase to penetrate through the egg zona pellucida.
Ultrastructure of opossum oocyte investing coats and their sensitivity to trypsin and hyaluronidase.
HIV Infections
Activity of lysosomal exoglycosidases in saliva of patients with HIV infection.
Hodgkin Disease
N-acetyl-beta-glucosaminidase in lymphocytes of patients with Hodgkin's disease, plasma cell myeloma and primary polycythemia.
Hydatidiform Mole
N-Acetyl-beta-glucosaminidase activity in hydatidiform mole.
Hyperacusis
GM1 gangliosidosis type 2 in two siblings.
Hyperglycemia
Glucosamine protects neonatal cardiomyocytes from ischemia-reperfusion injury via increased protein-associated O-GlcNAc.
Hyperoxaluria
Urinary enzymes and calcium oxalate urolithiasis.
Hyperparathyroidism, Secondary
Amyotrophic lateral sclerosis: concepts in pathogenesis and etiology.
Hypersensitivity
Chitins and chitosans as immunoadjuvants and non-allergenic drug carriers.
Inhibitory effect of glycoprotein isolated from Opuntia ficus-indica var. saboten MAKINO on activities of allergy-mediators in compound 48/80-stimulated mast cells.
Inhibitory effect of Pleurotus eryngii extracts on the activities of allergic mediators in antigen-stimulated mast cells.
Inhibitory effect of various Tunisian olive oils on chemical mediator release and cytokine production by basophilic cells.
Inhibitory mechanism of anti-allergic peptides in RBL2H3 cells.
[Effects of veterinary drugs on beta-hexosaminidase release from rat basophilic leukemia cells (RBL-2H3)]
Hypertension
A lack of coordination in the release of urinary lysosomal and brush border enzymes following renovascular surgery.
Cardiac O-GlcNAc signaling is increased in hypertrophy and heart failure.
Correlation between the resistive index by Doppler ultrasound and kidney function and histology.
Determination of urinary N-acetyl-beta-glucosaminidase in patients with hypertension and renal artery stenosis.
Elevated serum activity of N-acetyl-beta-glucosaminidase in essential hypertension: diagnostic value and reversal to normal values after antihypertensive therapy.
Evaluation of urinary enzyme patterns in patients with kidney diseases and primary benign hypertension.
Hydrolase activities in the rat aorta. II. Effects of hypertension alone and in combination with diabetes mellitus.
Lysosomal enzymes in preeclamptic women in northern Nigeria.
Semiquantitative histochemical investigation of lysosomal enzyme activities in the aortic endothelial cells of rats with renal hypertension.
UK Prospective Diabetes Study (UKPDS). IX: Relationships of urinary albumin and N-acetylglucosaminidase to glycaemia and hypertension at diagnosis of type 2 (non-insulin-dependent) diabetes mellitus and after 3 months diet therapy.
Urinary excretion of N-acetyl-beta-glucosaminidase in slight arterial hypertension during pregnancy.
Urinary N-acetyl-beta-glucosaminidase in the prediction of preeclampsia.
[The significance of microproteinuria for the diagnosis of kidney involvement in hypertensive disease and secondary forms of arterial hypertension]
Hypertension, Portal
Pattern of serum beta-hexosaminidase in liver cirrhosis.
Hypertension, Renal
Semiquantitative histochemical investigation of lysosomal enzyme activities in the aortic endothelial cells of rats with renal hypertension.
Hypertension, Renovascular
Determination of urinary N-acetyl-beta-glucosaminidase in patients with hypertension and renal artery stenosis.
Hyperthyroidism
Changes in serum N-acetyl-beta-hexosaminidase levels after treatment of hypothyroid and hyperthyroid individuals with L-thyroxine and propylthiouracil.
Relationship of thyroid status and serum N-acetyl-beta-glucosaminidase isoenzyme activities in humans.
Serum lysosomal acid hydrolase activities in Graves' disease.
Hypokalemia
Effect of potassium deficiency and gossypol on urinary N-acetyl-beta-glucosaminidase excretion in the rat.
Hypolipoproteinemias
[Tourettism, hemiballism and juvenile Parkinsonism: expanding the clinical spectrum of the neurodegeneration associated to pantothenate kinase deficiency (Hallervorden Spatz syndrome)]
Hypothyroidism
Changes in serum N-acetyl-beta-hexosaminidase levels after treatment of hypothyroid and hyperthyroid individuals with L-thyroxine and propylthiouracil.
Idiopathic Interstitial Pneumonias
BALF N-acetylglucosaminidase and beta-galactosidase activities in idiopathic pulmonary fibrosis.
Idiopathic Pulmonary Fibrosis
Alveolar macrophage lysosomal enzyme and C3b receptors in cryptogenic fibrosing alveolitis.
BALF N-acetylglucosaminidase and beta-galactosidase activities in idiopathic pulmonary fibrosis.
Infections
Allelic variation of polymorphic locus lytB, encoding a choline-binding protein, from streptococci of the mitis group.
Cell killing by simian virus 40: variation in the pattern of lysosomal enzyme release, cellular enzyme release, and cell death during productive infection of normal and simian virus 40-transformed simian cell lines.
Chitinase levels in guinea pig blood are increased after systemic infection with Aspergillus fumigatus.
Comparative development of Brugia pahangi and variation in acid hydrolase enzyme titers in.
Effect of caprine arthritis-encephalitis virus infection on milk cell count and N-acetyl-beta-glucosaminidase activity in dairy goats.
Enzymuria in antibiotic therapy of acute infections.
Functional characterization of chitinase from Cydia pomonella granulovirus.
IFN-? impairs Trichophyton rubrum proliferation in a murine model of dermatophytosis through the production of IL-1? and reactive oxygen species.
In Vitro Antimicrobial Efficacy of Tobramycin Against Staphylococcus aureus Biofilms in Combination With or Without DNase I and/or Dispersin B: A Preliminary Investigation.
In vitro elution of amikacin and Dispersin B from a polymer hydrogel.
N-acetyl-beta-glucosaminidase in the localization of the site of urinary tract infections.
Production of a sialylated N-linked glycoprotein in insect cells: role of glycosidases and effect of harvest time on glycosylation.
Role for lysosomal enzyme beta-hexosaminidase in the control of mycobacteria infection.
Sialylation of N-glycans on the recombinant proteins expressed by a baculovirus-insect cell system under beta-N-acetylglucosaminidase inhibition.
Silviavirus phage ?MR003 displays a broad host range against methicillin-resistant Staphylococcus aureus of human origin.
Susceptibility of staphylococcal biofilms to enzymatic treatments depends on their chemical composition.
Synthesis of a human lysosomal enzyme, beta-hexosaminidase B, using the baculovirus expression system.
UK Prospective Diabetes Study (UKPDS). IX: Relationships of urinary albumin and N-acetylglucosaminidase to glycaemia and hypertension at diagnosis of type 2 (non-insulin-dependent) diabetes mellitus and after 3 months diet therapy.
Urinary N-acetyl-beta-glucosaminidase and beta-2-microglobulin in the diagnosis of urinary tract infection in febrile infants.
Urinary N-acetyl-beta-glucosaminidase and the selection of children for radiologic evaluation after urinary tract infection.
Widespread distribution of beta-hexosaminidase activity in the brain of a Sandhoff mouse model after coinjection of adenoviral vector and mannitol.
[Serum GOT, GPT, M-GOT, LDH5, N-acetyl-beta-glucosaminidase activities in children with infections hepatitis. (Clinico-biochemical classification)]
Infertility
Development of infertility at young adult age in a mouse model of human Sandhoff disease.
Evaluation of N-acetilglucosaminidase and myeloperoxidase activity in patients with endometriosis-related infertility undergoing intracytoplasmic sperm injection.
Inflammatory Bowel Diseases
Inflammatory bowel disease and serum beta-N-acetylhexosaminidase.
Influenza, Human
N-acetyl-beta-glucosaminidase accounts for differences in glycosylation of influenza virus hemagglutinin expressed in insect cells from a baculovirus vector.
Insulin Resistance
Caenorhabditis elegans ortholog of a diabetes susceptibility locus: oga-1 (O-GlcNAcase) knockout impacts O-GlcNAc cycling, metabolism, and dauer.
Elevation of Global O-GlcNAc in rodents using a selective O-GlcNAcase inhibitor does not cause insulin resistance or perturb glucohomeostasis.
Elevation of global O-GlcNAc levels in 3T3-L1 adipocytes by selective inhibition of O-GlcNAcase does not induce insulin resistance.
Inhibition of O-GlcNAcase using a potent and cell-permeable inhibitor does not induce insulin resistance in 3T3-L1 adipocytes.
O-GlcNAc modification on IRS-1 and Akt2 by PUGNAc inhibits their phosphorylation and induces insulin resistance in rat primary adipocytes.
O-GlcNAc-selective-N-acetyl-beta-D-glucosaminidase activity and mRNA expression in muscle is related to glucosamine-induced insulin resistance.
O-GlcNAcase deficiency suppresses skeletal myogenesis and insulin sensitivity in mice through the modulation of mitochondrial homeostasis.
Prolonged incubation in PUGNAc results in increased protein O-Linked glycosylation and insulin resistance in rat skeletal muscle.
Proteomics and PUGNAcity will overcome questioning of insulin resistance induction by non-selective inhibition of O-GlcNAcase.
Insulinoma
Chemical dissection of the link between streptozotocin, O-GlcNAc, and pancreatic cell death.
The potential mechanism of the diabetogenic action of streptozotocin: inhibition of pancreatic beta-cell O-GlcNAc-selective N-acetyl-beta-D-glucosaminidase.
Intervertebral Disc Displacement
Detection of O-Linked-N-Acetylglucosamine Modification and Its Associated Enzymes in Human Degenerated Intervertebral Discs.
Iron Overload
Acid hydrolase activities and lysosomal integrity in liver biopsies from patients with iron overload.
Studies on the concentration and intracellular localization of iron proteins in liver biopsy specimens from patients with iron overload with special reference to their role in lysosomal disruption.
Joint Diseases
Activity of N-acetyl-beta-hexosaminidase and its isoenzymes in serum and synovial fluid from patients with different arthropathies.
N-acetyl-beta-D-hexosaminidase system in synovial fluid.
Optimization of an enzymatic method for the determination of lysosomal N-acetyl-beta-D-hexosaminidase and beta-glucuronidase in synovial fluid.
Kidney Diseases
A fluorescent probe for bioimaging of Hexosaminidases activity and exploration of drug-induced kidney injury in living cell.
Increased excretion of urinary N-acetyl-beta-glucosaminidase in essential hypertension and its decline with antihypertensive therapy.
Kidney Failure, Chronic
Serum beta-N-acetyl hexosaminidase levels in chronic renal failure.
Kidney Neoplasms
Effect of smoking on activity of N-acetyl-beta-hexosaminidase in serum and urine of renal cancer patients.
Statistical evaluation of the isoform patterns of N-acetyl-beta-hexosaminidase from human renal cancer tissue separated by isoelectrofocusing.
Kwashiorkor
Lysosomal enzymuria in protein energy malnutrition.
Laryngeal Neoplasms
Effect of radiotherapy on the neutrophil and the lymphocyte enzymatic equipment and serum immunoglobulins in patients with cancer of the larynx.
Hexosaminidase as a new potential marker for larynx cancer.
Intracellular enzymatic response of lymphocytes and neutrophils in patients with cancer of the larynx.
N-acetyl-beta-glucosaminidase of peripheral blood lymphocytes in patients with cancer of the larynx.
Leukemia
alpha-L-fucosidase and beta-hexosaminidase isoenzymes in human leukemia.
Anti-allergic effect of a hot-water extract of quince (Cydonia oblonga).
Antiallergic Potential on RBL-2H3 Cells of Some Phenolic Constituents of Zingiber officinale (Ginger).
Application of human Fc epsilon RI alpha-chain-transfected RBL-2H3 cells for estimation of active serum IgE.
Assessment of autoimmunity in patients with chronic urticaria.
Cannabidiol, unlike synthetic cannabinoids, triggers activation of RBL-2H3 mast cells.
Conversion of acute undifferentiated leukemia phenotypes: analysis of clonal development.
Effects of metal elements on beta-hexosaminidase release from rat basophilic leukemia cells (RBL-2H3).
Effects of propolis from different areas on mast cell degranulation and identification of the effective components in propolis.
Effects of the cannabimimetic fatty acid derivatives 2-arachidonoylglycerol, anandamide, palmitoylethanolamide and methanandamide upon IgE-dependent antigen-induced beta-hexosaminidase, serotonin and TNF alpha release from rat RBL-2H3 basophilic leukaemic cells.
Establishment and characterization of a new leukaemic T-cell line (Peer) with an unusual phenotype.
Expression of hexosaminidase isoenzymes in childhood leukemia.
Functional comparison of Fc epsilon RI, Fc gamma RII, and Fc gamma RIII in mast cells.
Hexosaminidase I indicates maturation disarrangement in acute leukemias.
In vitro and in vivo anti-allergic effects of Arctium lappa L.
Inhibition of IgE-mediated N-acetylglucosaminidase and serotonin release from rat basophilic leukemia cells (RBL-2H3) by tenidap: a novel anti-inflammatory agent.
Inhibition of Mast Cell Degranulation by Phycoerythrin and Its Pigment Moiety Phycoerythrobilin, Prepared from Porphyra yezoensis
Inhibitory Effect of Acteoside Isolated from Cistanche tubulosa on Chemical Mediator Release and Inflammatory Cytokine Production by RBL-2H3 and KU812 Cells.
Inhibitory effect of carotenoids on the degranulation of mast cells via suppression of antigen-induced aggregation of high affinity IgE receptors.
Inhibitory effect of fulvic acid extracted from Canadian sphagnum peat on chemical mediator release by RBL-2H3 and KU812 cells.
Inhibitory effect of various Tunisian olive oils on chemical mediator release and cytokine production by basophilic cells.
Inhibitory mechanism of anti-allergic peptides in RBL2H3 cells.
Investigation into the effects of amyloid (1-42) beta-peptide upon basal and antigen-stimulated hexosaminidase and serotonin release from rat RBL-2H3 basophilic leukemia cells.
Isoenzyme studies in human leukemia -- III. beta-Hexosaminidase (E.C. 3.2.1.30).
Mast cell-dependent allergic responses are inhibited by ethanolic extract of adlay (Coix lachryma-jobi L. var. ma-yuen Stapf) testa.
Multiple marker validity of urinary hexosaminidase and polyamines in haematopoietic malignancy.
Mycoplasma pneumoniae-induced activation and cytokine production in rodent mast cells.
N-acetyl-beta-glucosaminidase activity in normal and acute leukemia blood cells.
Nicorandil inhibits degranulation and TNF-alpha release from RBL-2H3 cells.
Oxatomide and derivatives as inhibitors of mediator release from a mast cell model. Structure-activity relationships.
Potent protecting effects of Catuaba (Anemopaegma mirandum) extracts against hydroperoxide-induced cytotoxicity.
Properties of Fulvic Acid Extracted from Excess Sludge and Its Inhibiting Effect on beta-Hexosaminidase Release.
Regulation of exocytosis by the small GTP-binding protein Rho in rat basophilic leukemia (RBL-2H3) cells.
Serum and host liver activities of glycosidases and sialyltransferases in animals bearing transplantable tumors.
Significance of enzyme markers as a part of multiple marker analysis in leukemia research.
Structure-activity relationships of astemizole derivatives for inhibition of store operated Ca2+ channels and exocytosis.
Structures of new flavonoids and benzofuran-type stilbene and degranulation inhibitors of rat basophilic leukemia cells from the Brazilian herbal medicine Cissus sicyoides.
Synaptotagmin III is a critical factor for the formation of the perinuclear endocytic recycling compartment and determination of secretory granules size.
The IREM-1 (CD300f) inhibitory receptor associates with the p85alpha subunit of phosphoinositide 3-kinase.
Thiamet-G-mediated inhibition of O-GlcNAcase sensitizes human leukemia cells to microtubule-stabilizing agent paclitaxel.
[Comparative studies of hexosaminidase P in the serum of pregnant females and hexosaminidase I2 in the serum of children with leukemia]
[Effects of organonitrogen, carbamate pesticides and others on beta-hexosaminidase release from rat basophilic leukemia cells (RBL-2H3)]
[Effects of veterinary drugs on beta-hexosaminidase release from rat basophilic leukemia cells (RBL-2H3)]
[Hexosaminidase activity in cell lines, serum and urine of leukemia patients in childhood]
[Hexosaminidase isoenzyme pattern in leukemia]
[Hexosaminidase isoenzymes in leukemia]
Leukemia, Erythroblastic, Acute
Cytochemical detection of erythroblastic enzymes in acquired dyserythropoiesis.
Erythroleukemia cell lines HEL and K-562: changes in isoenzyme profiles and morphology during induction of differentiation.
Leukemia, Lymphoid
Hexosaminidase isoenzyme profiles in leukemic cells.
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Diverse mechanisms of autophagy dysregulation and their therapeutic implications: does the shoe fit?
Leukemia, Prolymphocytic
Cytochemistry of acid hydrolases in chronic B- and T-cell leukemias.
Leukemia, T-Cell
Cytochemistry of acid hydrolases in chronic B- and T-cell leukemias.
Leukemia-Lymphoma, Adult T-Cell
Characterization of AtlL, a bifunctional autolysin of Staphylococcus lugdunensis with N-acetylglucosaminidase and N-acetylmuramoyl-l-alanine amidase activities.
Leukodystrophy, Metachromatic
[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]
Leukoplakia
Lymphocytes, neutrophils and serum immunoglobulins in patients with precancerous states of the larynx.
The lymphocyte cytochemical equipment and serum immunoglobulins in patients with precancerous states of the larynx.
Lipidoses
Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe.
Utility of serum lysosomal enzyme assay in the detection of cerebral sphingolipidoses in patients with progressive neurologic dysfunction.
Liver Cirrhosis
Beta-hexosaminidase activity in alcoholic fatty liver and in CCl4-induced liver fibrosis of the rat.
beta-Hexosaminidase activity in the acute phase of CCl4 poisoning in the rat.
Changes in the catalytic activities of proteoglycan-degrading lysosomal enzymes in parenchymal and non-parenchymal liver cells and in serum during the development of experimental liver fibrosis.
Evaluation of serum laminin P1, procollagen-III peptides, and N-acetyl-beta-glucosaminidase for monitoring the activity of liver fibrosis.
Immunoassay of beta-hexosaminidase isoenzymes in serum in patients with raised total activities.
Lysosomal enzymes in plasma, liver and spleen from rats with carbon tetrachloride-induced liver cirrhosis.
Pattern of serum beta-hexosaminidase in liver cirrhosis.
Relationship between plasma ammonia concentration and beta-N-acetylhexosaminidase isoenzyme activities in liver cirrhosis.
Serum concentration of procollagen-III-peptide in comparison with the serum activity of N-acetyl-beta-glucosaminidase for diagnosis of the activity of liver fibrosis in patients with chronic active liver diseases.
Source of increased serum beta-hexosaminidase in rat liver cirrhosis.
[Progress in the diagnosis of chronic liver disease: diagnostic activity in liver fibrosis and cirrhosis]
Liver Cirrhosis, Alcoholic
Influence of ethanol on the human serum level of beta-hexosaminidase.
Total fasting serum bile acids and beta-hexosaminidase in alcoholic liver disease.
[A study of lysosomal enzyme activities in serum and leukocytes in chronic hepatic disease (author's transl)]
Liver Diseases
A possible explanation for the occurrence of increased beta-hexosaminidase activity in pregnancy serum.
Activity of procollagen-prolyl-hydroxylase and N-acetyl-beta-glucosaminidase in liver biopsies from patients with chronic liver diseases.
beta-Hexosaminidase activity in the acute phase of CCl4 poisoning in the rat.
Evaluation of serum laminin P1, procollagen-III peptides, and N-acetyl-beta-glucosaminidase for monitoring the activity of liver fibrosis.
Isoenzyme pattern of serum beta-hexosaminidase in liver disease, alcohol intoxication, and pregnancy.
Isoenzymes of N-acetyl-beta-glucosaminidase from human liver and serum: separation by electrofocusing in thin layers of polyacrylamide gel.
Liver disease and serum hexosaminidase levels. Studies in a human hepatoma cell-line (Hep G2 cells).
Lysosomes and human liver disease: a biochemical and immunohistochemical study of beta-hexosaminidase.
Rat plasma clearance rate and organ distribution of beta-hexosaminidase isoenzymes from human serum.
Relationship between plasma ammonia concentration and beta-N-acetylhexosaminidase isoenzyme activities in liver cirrhosis.
Serum beta-hexosaminidase isoenzymes are precursor forms.
Serum concentration of procollagen-III-peptide in comparison with the serum activity of N-acetyl-beta-glucosaminidase for diagnosis of the activity of liver fibrosis in patients with chronic active liver diseases.
The effect of porta-caval shunt, ammonia infusion and alcohol administration on rat plasma beta-hexosaminidase.
[A study of lysosomal enzyme activities in serum and leukocytes in chronic hepatic disease (author's transl)]
[Activity of beta-hexosaminidase in serum of patients with alcoholic and nonalcoholic liver diseases]
[Correlation between the mesenchyma reaction in fibrosing liver diseases and N-acetyl-beta-glucosaminidase (beta-NAG) activity]
[Isoenzyme P of N-acetyl-beta-glucosaminidase in sera from patients with liver diseases (author's transl)]
[N-Acetyl-beta-glucosaminidase activity and hydroxyproline excretion in liver diseases in alcoholics]
Liver Diseases, Alcoholic
Serum beta-N-acetyl hexosaminidase (beta-NAH) as a discriminant between malignant and benign extrahepatic biliary obstruction: comparison with carcinoembryonic antigen (CEA).
Total fasting serum bile acids and beta-hexosaminidase in alcoholic liver disease.
Liver Failure, Acute
Circulating lysosomal enzymes and acute hepatic necrosis.
Lung Neoplasms
Activity of some lysosomal enzymes in peripheral blood lymphocytes of patients with lung cancer. A cytochemical study.
Cytochemical study of neutrophils from peripheral blood of patients with lung cancer.
Elevated activity of beta-hexosaminidase and sulfhydryl modification in the B-variant of human lung cancer.
[Clinical study of nephrotoxicity following cis-diamminedichloroplatinum (II) (CDDP) combination chemotherapy assessed by 131I-OIH renogram]
Lyme Disease
Activity of lysosomal exoglycosidases in serum and synovial fluid in patients with chronic Lyme and rheumatoid arthritis.
Activity of lysosomal exoglycosidases in the serum of patients with chronic Lyme arthritis.
Lymphohistiocytosis, Hemophagocytic
Cross-regulation of defective endolysosome trafficking and enhanced autophagy through TFEB in UNC13D deficiency.
Lymphoma
Isoenzyme studies in human leukemia -- III. beta-Hexosaminidase (E.C. 3.2.1.30).
Multiple marker validity of urinary hexosaminidase and polyamines in haematopoietic malignancy.
[Amyotrophic lateral sclerosis with multiple myeloma]
[Clinical study of nephrotoxicity following cis-diamminedichloroplatinum (II) (CDDP) combination chemotherapy assessed by 131I-OIH renogram]
Lysosomal Storage Diseases
Atypical presentation of late-onset Tay-sachs disease.
Cloning and expression of the cDNA sequence encoding the lysosomal glycosidase di-N-acetylchitobiase.
Development of Specific Fluorogenic Substrates for Human ?-N-Acetyl-D-hexosaminidase A for Cell-Based Assays.
Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease.
Expression of human beta-hexosaminidase alpha-subunit gene (the gene defect of Tay-Sachs disease) in mouse brains upon engraftment of transduced progenitor cells.
Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes.
GM2 ganglioside lysosomal storage disease in cats with beta-hexosaminidase deficiency.
GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: a potential model for Tay Sachs disease.
Impact of premature stop codons on mRNA levels in infantile Sandhoff disease.
Medical conditions in Ashkenazi schizophrenic pedigrees.
Metabolic correction in microglia derived from Sandhoff disease model mice.
Molecular cloning and structural organization of the gene encoding the mouse lysosomal di-N-acetylchitobiase (ctbs).
Molecular heterogeneity in lysosomal storage diseases. Alpha-fucosidase and N-acetyl-beta-D-hexosaminidase deficiency variants.
Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminidase beta-subunit deficiency.
Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.
Pathology of GM2 Gangliosidosis in Jacob Sheep.
Peripheral nervous system manifestations in a Sandhoff disease mouse model: nerve conduction, myelin structure, lipid analysis.
Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease.
Rapid nonradioactive tracer method for detecting carriers of the major Ashkenazi Jewish Tay-Sachs disease mutations.
Reduced rates of axonal and dendritic growth in embryonic hippocampal neurones cultured from a mouse model of Sandhoff disease.
Restoration of hexosaminidase A activity in human Tay-Sachs fibroblasts via adenoviral vector-mediated gene transfer.
Retrospective diagnosis of feline GM2 gangliosidosis variant 0 (Sandhoff-like disease) in Japan: possible spread of the mutant allele in the Japanese domestic cat population.
Specific induction of macrophage inflammatory protein 1-alpha in glial cells of Sandhoff disease model mice associated with accumulation of N-acetylhexosaminyl glycoconjugates.
Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.
Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
Machado-Joseph Disease
Diverse mechanisms of autophagy dysregulation and their therapeutic implications: does the shoe fit?
Malnutrition
Neonatal undernutrition and short term administration of hydrocortisone and thyroxine: effects on rat brain hydrolases.
Serum lysosomal hydrolases in cystic fibrosis.
Mannosidase Deficiency Diseases
Lysosomal glycosidase activities in human hair roots.
Mastitis
Assessment of the visually read N-acetylglucosaminidase test to detect mastitis in herd surveys.
Interquarter comparison of markers of subclinical mastitis: somatic cell count, electrical conductivity, N-acetyl-beta-glucosaminidase and antitrypsin.
Use of California Mastitis Test, N-acetyl-beta-glucosaminidase, and antitrypsin to diagnose caprine subclinical mastitis.
Mastocytoma
Regulation of type V phospholipase A2 expression and function by proinflammatory stimuli.
Melanoma
Cathepsin B: association with plasma membrane in metastatic tumors.
Enzyme release from cultured human melanoma cells.
Ganglioside GM2 levels in human melanoma cells: inverse correlation with lysosomal beta-hexosaminidase A activity.
Low levels of beta hexosaminidase A in healthy individuals with apparent deficiency of this enzyme.
Preparation, In Vivo Administration, Dose-Limiting Toxicities, and Antineoplastic Activity of Cytochalasin B.
Melanoma, Experimental
Cathepsin B: association with plasma membrane in metastatic tumors.
Properties of a plasma membrane-associated cathepsin B-like cysteine proteinase in metastatic B16 melanoma variants.
Meningioma
Gene dosage effect in cells with monosomy of chromosome 22 derived from human meningiomas.
Meningitis
A thermodynamic study of beta-N-acetylhexosaminidase enzyme heterogeneity in cerebrospinal fluid from patients with multiple sclerosis.
Meningitis, Aseptic
Increased activity of lysosomal acid hydrolases in the cell-free cerebrospinal fluid of bacterial meningitis.
Meningitis, Bacterial
CSF lysosomal hydrolase activity as an aid in the diagnosis of bacterial meningitis.
Increased activity of lysosomal acid hydrolases in the cell-free cerebrospinal fluid of bacterial meningitis.
Mesenteric Ischemia
Circulating concentrations of porcine ileal peptide but not hexosaminidase are elevated following 1 hr of mesenteric ischemia.
Intestinal fatty acid binding protein in serum and urine reflects early ischemic injury to the small bowel.
Metabolic Diseases
Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease.
Tay-Sachs disease as a model for screening inborn errors.
Migraine Disorders
Evidence for distinct clusters of diverse anomalous experiences and their selective association with signs of elevated cortical hyperexcitability.
Motor Neuron Disease
Adult onset motor neuronopathy in the juvenile type of hexosaminidase A and B deficiency.
Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease).
GM2 gangliosidosis with a motor neuron disease phenotype: clinical heterogeneity of hexosaminidase deficiency disease.
Hexosaminidase deficiency: a cause of recessively inherited motor neuron diseases.
Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype.
Late-onset hexosaminidase A deficiency mimicking primary lateral sclerosis.
Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease.
Motor neuron disease and adult hexosaminidase A deficiency in two families: evidence for multisystem degeneration.
Motor neuron diseases resulting from hexosaminidase deficiency.
N-acetyl-beta-hexosaminidase B deficiency in cultured fibroblasts from a patient with progressive motor neuron disease.
N-acetyl-beta-hexosaminidase beta locus defect and juvenile motor neuron disease: a case study.
Plasma lysosomal enzyme levels in patients with motor neuron disease.
Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient.
Research progress in motor neuron diseases.
The clinical spectrum of hexosaminidase deficiency diseases.
[A patient with GM2 gangliosidosis presenting with motor neuron disease symptom in his forties]
[Adult Sandhoff disease presented as a motor neuron disease phenotype with slow progression]
[Amyotrophic lateral sclerosis with multiple myeloma]
Mucolipidoses
A study of highly purified mucolipidosis III urinary N-acetyl-beta-D-hexosaminidase B.
Cell disease: desialylation of beta-hexosaminidase and its effect on uptake by fibroblasts.
Chromatographic components of beta-hexosaminidase in I-cell disease (mucolipidosis II).
Compartmental distribution of beta-hexosaminidase isoenzymes in I-cell fibroblasts.
Defective phosphorylation and processing of beta-hexosaminidase by intact cultured fibroblasts from patients with mucolipidosis III.
Demonstration of the heterozygous state for I-cell disease and pseudo-Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts.
Effect of the co-existence of galactosyl and phosphomannosyl residues on beta-hexosaminidase on the processing and transport of the enzyme in mucolipidosis I fibroblasts.
Effects of flavonoids on enzyme secretion and endocytosis in normal and mucolipidosis II fibroblasts.
Electrophoretic analysis of glycoprotein enzymes in the sialidoses and mucolipidoses.
Excretion-reuptake route of beta-hexosaminidase in normal and I-cell disease cultured fibroblasts.
I-cell disease. A hypothesis for the structure of the carbohydrate recognition site on beta-D-N-acetylhexosaminidase.
I-cell disease: intracellular desialylation of lysosomal enzymes using an influenza virus vector.
Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes.
Immunocytochemical localization of beta-hexosaminidase and electron-microscopic characterization of human fibroblasts following treatment with monensin and nigericin.
Impaired phosphorylation of lysosomal enzymes in fibroblasts of patients with mucolipidosis III.
Inborn errors of lysosomal catabolism--principles of heterozygote detection.
Increased lung surfactant phosphatidylcholine in patients affected by lysosomal storage diseases.
Increased serum hexosaminidase in a woman pregnant with fetus affected by mucolipidosis II (I-cell disease)
Intracellular transport of acid alpha-glucosidase in human fibroblasts: evidence for involvement of phosphomannosyl receptor-independent system.
Isoenzymes of serum N-acetyl-beta-D-glucosaminidase in the I cell disease heterozygote.
Letter: Serum hexosaminidase content in I-cell disease.
Light and heavy lysosomes: characterization of N-acetyl-beta-D-hexosaminidase isolated from normal and I-cell disease lymphoblasts.
Membrane-bound N-acetyl-beta-glucosaminidase. Different binding specificity in control and I-cell disease livers.
Molecular forms of beta-hexosaminidase and alpha-mannosidase in cell cultures from patients with mucolipidosis types II and III.
Molecular forms of beta-hexosaminidase and cathepsin D in serum and urine of healthy subjects and patients with elevated activity of lysosomal enzymes.
Mucolipidoses II and III variants with normal N-acetylglucosamine 1-phosphotransferase activity toward alpha-methylmannoside are due to nonallelic mutations.
Mucolipidosis III beta-N-acetyl-D-hexosaminidase A. Purification and properties.
Serum hexosaminidase activity in I-cell disease carriers.
The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases.
The subcellular localization of soluble and membrane-bound lysosomal enzymes in I-cell fibroblasts: a comparative immunocytochemical study.
Ultrastructural pathology of dermal axons and Schwann cells in lysosomal diseases.
[Lysosomal hydrolase activity of the plasma and leukocytes of homo- and heterozygotes with various types of I-cell disease]
Mucopolysaccharidoses
Acid hydrolases in serum from patients with lysosomal disorders.
An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene.
GM1 gangliosidosis type 2 in two siblings.
Mice deficient in all forms of lysosomal beta-hexosaminidase show mucopolysaccharidosis-like pathology.
Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis.
Mucopolysaccharidosis I
Mucopolysaccharide diseases: A complex interplay between neuroinflammation, microglial activation and adaptive immunity.
Mucopolysaccharidosis III
Lentiviral-mediated gene therapy for murine mucopolysaccharidosis type IIIA.
Mucopolysaccharide diseases: A complex interplay between neuroinflammation, microglial activation and adaptive immunity.
[A patient with Sanfilippo syndrome type B and Wilson disease born to unrelated parents]
Multiple Myeloma
Morphological and isoenzymatic differentiation of B-chronic lymphocytic leukaemia cells induced by phorbolester.
N-acetyl-beta-glucosaminidase in lymphocytes of patients with Hodgkin's disease, plasma cell myeloma and primary polycythemia.
Multiple Sclerosis
A thermodynamic study of beta-N-acetylhexosaminidase enzyme heterogeneity in cerebrospinal fluid from patients with multiple sclerosis.
Beta-N-acetylhexosaminidase in peripheral blood lymphocytes and monocytes in the different forms and stages of multiple sclerosis.
Diagnostic value of determinations of lysosomal hydrolases in CSF of patients with neurological diseases.
Lysosomal hydrolases in CSF of patients with multiple sclerosis.
Muscle Weakness
Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome.
Muscular Atrophy
Muscle-specific overexpression of NCOATGK, splice variant of O-GlcNAcase, induces skeletal muscle atrophy.
Muscular Atrophy, Spinal
Beta-N-acetylhexosaminidase in spinal muscular atrophy fibroblasts.
Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil.
Hexosaminidase A deficiency manifesting as spinal muscular atrophy of late onset.
Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype.
Neuropathology of chronic GM2 gangliosidosis due to hexosaminidase A deficiency.
Spinal muscular atrophy is not the result of mutations at the beta-hexosaminidase or GM2-activator locus.
[Spinal muscular atrophy: a hexosaminidase A deficiency phenotype]
Musculoskeletal Diseases
Renal injury in patients with rheumatoid arthritis treated with gold.
Myeloproliferative Disorders
Defective platelet beta-N-acetyl hexosaminidase content and release in chronic myeloproliferative disorders.
Myocardial Infarction
Cardiac O-GlcNAc signaling is increased in hypertrophy and heart failure.
Plasma lysosomal enzyme activity in acute myocardial infarction and the effects of drugs.
Plasma lysosomal enzyme activity in acute myocardial infarction.
Serum beta-hexosaminidase isoenzymes are related to risk factors for atherosclerosis in a large population of postmenopausal women.
Myoclonic Epilepsies, Progressive
Diverse mechanisms of autophagy dysregulation and their therapeutic implications: does the shoe fit?
Myositis
Thioridazine aggravates skeletal myositis, systemic and liver inflammation in Trypanosoma cruzi-infected and benznidazole-treated mice.
[What is the role of other complementary examination in amyotrophic lateral sclerosis?]
Neoplasm Metastasis
Atypical beta-hexosaminidase in sera of cancer patients with liver metastases.
Increased expression of O-GlcNAc transferase (OGT) is a biomarker for poor prognosis and allows tumorigenesis and invasion in colon cancer.
Variant serum beta-hexosaminidase as a biochemical marker of malignancy.
Neoplasms
?-Caryophyllene inhibits dextran sulfate sodium-induced colitis in mice through CB2 receptor activation and PPAR? pathway.
A fluorescent probe for bioimaging of Hexosaminidases activity and exploration of drug-induced kidney injury in living cell.
A study of serum glycosidases in cancer.
Aberrant crypt foci and colon tumors in F344 rats have similar increases in proliferative activity.
Activated T lymphocytes induce degranulation and cytokine production by human mast cells following cell-to-cell contact.
Activity of some lysosomal enzymes in neutrophils from peripheral blood of patients with digestive tract cancer at different clinical stages of the disease. A cytochemical study.
Allergy-related cytokines (IL-4 and TNF-alpha) are induced by Di(2-ethylhexyl) phthalate and attenuated by plant-originated glycoprotein (75 kDa) in HMC-1 cells.
Alterations of glycosidases in benign, premalignant and malignant human lesions.
Atypical beta-hexosaminidase in sera of cancer patients with liver metastases.
Beta-hexosaminidase activities and isoenzymes in normal human ovary and ovarian adenocarcinoma.
Bioactive constituents from Chinese natural medicines. XIV.New glycosides of beta-carboline-type alkaloid, neolignan, and phenylpropanoid from Stellaria dichotoma L. var. lanceolata and their antiallergic activities.
Bitterness in sugar: O-GlcNAcylation aggravates pre-B acute lymphocytic leukemia through glycolysis via the PI3K/Akt/c-Myc pathway.
Capillary electrophoresis-mass spectrometry for glycoscreening in biomedical research.
Comparison of methods of evaluating nephrotoxicity of cis-platinum.
Computerised algorithm of tumour-associated markers to monitor haematopoietic malignancy.
Cysteinyl leukotrienes enhance the degranulation of bone marrow-derived mast cells through the autocrine mechanism.
Cytochemical analysis of acid hydrolases expression during phorbol diester (TPA)-driven differentiation of B-chronic lymphocytic leukaemia cells in vitro.
Cytochemical study of neutrophils from peripheral blood of patients with lung cancer.
Design and Optimization of Thioglycosyl-naphthalimides as Efficient Inhibitors Against Human O-GlcNAcase.
Diagnostic value of biochemical analysis of pleural effusions. Carcinoembryonic antigen and beta 2 microglobulin.
Diagnostic value of determinations of lysosomal hydrolases in CSF of patients with neurological diseases.
Diet, nutrition intake, and metabolism in populations at high and low risk for colon cancer. Comparison of serum hexosaminidase levels.
Dynamic O-glycosylation of nuclear and cytosolic proteins: cloning and characterization of a neutral, cytosolic beta-N-acetylglucosaminidase from human brain.
Effect of radiotherapy on the neutrophil and the lymphocyte enzymatic equipment and serum immunoglobulins in patients with cancer of the larynx.
Effect of size, concentration, surface area, and volume of polymethylmethacrylate particles on human macrophages in vitro.
Effects of Global O-GlcNAcylation on Galectin Gene-expression Profiles in Human Cancer Cell Lines.
Elevated activity of beta-hexosaminidase and sulfhydryl modification in the B-variant of human lung cancer.
Elevation of acid glycosidase activities in thyroid and gastric tumors.
Enzyme activity profiles in mouse teratocarcinomas. A quantitative ultramicroscale analysis.
Enzyme release from cultured human melanoma cells.
Establishment and characterization of transplantable tumor derived from a spontaneous malignant fibrous histiocytoma in the mouse.
Evaluation of cell-surface IgE receptors on the canine mastocytoma cell line C2 maintained in continuous culture.
Evaluation of inflammatory and renal-injury markers in women treated with antibiotics for acute pyelonephritis caused by Escherichia coli.
Hexosaminidase as a new potential marker for larynx cancer.
Histochemical studies on N-acetyl-beta-galactosaminidase and N-acetyl-beta-glucosaminidase in the cancer of the uterine cervix.
Human macrophage response to retrieved titanium alloy particles in vitro.
Human serum hexosaminidase: elevated B form isozyme in cancer patients.
Hydrolytic enzyme activities of the nervous system.
Immunohistochemical studies of beta-hexosaminidase in neoplastic and normal tissues with monoclonal antibodies.
In vitro anti-allergic activity of Moringa oleifera Lam. extracts and their isolated compounds.
Increased expression of O-GlcNAc transferase (OGT) is a biomarker for poor prognosis and allows tumorigenesis and invasion in colon cancer.
Increased N-acetyl-beta-glucosaminidase activity in primary breast carcinomas corresponds to a decrease in N-acetylglucosamine containing proteins.
Influence of a reticuloendothelial-suppressing agent on liver tumor growth in the rat.
Inhibitory Effect of Farnesylthiosalicylic Acid on Mediators Release by Mast Cells: Preferential Inhibition of Prostaglandin D(2) and Tumor Necrosis Factor-alpha Release.
Interleukin-10 inhibits cytokine generation from mast cells.
Intracellular enzymatic response of lymphocytes and neutrophils in patients with cancer of the larynx.
Isoenzymes of beta-hexosaminidase from normal rat colon and colonic carcinoma.
Isoenzymes of N-acetyl-beta-hexosaminidase in human pleomorphic adenoma and healthy salivary glands: a preliminary study.
Lysosomal enzymes in peripheral blood lymphocytes of patients with gastric cancer.
Macrophage stimulation and antitumor effect of Ukrain.
Measuring O-GlcNAc cleavage by OGA and cell lysates on a peptide microarray.
Multiple marker validity of urinary hexosaminidase and polyamines in haematopoietic malignancy.
N-acetyl-beta-D-hexosaminidase and its isoenzymes A and B in blood serum and urine, as a potential colon cancer markers.
N-acetyl-beta-glucosaminidase of peripheral blood lymphocytes in patients with cancer of the larynx.
N-acetyl-beta-hexosaminidase activity and isoenzymes in human gastric adenocarcinoma.
Necroptosis mediates the antineoplastic effects of the soluble fraction of polysaccharide from red wine in Walker-256 tumor-bearing rats.
Novel GH-20 ?-N-acetylglucosaminidase inhibitors: Virtual screening, molecular docking, binding affinity, and anti-tumor activity.
O-GlcNAcase is essential for embryonic development and maintenance of genomic stability.
O-GlcNAcase targets pyruvate kinase M2 to regulate tumor growth.
O-GlcNAcylation Enhances Double-Strand Break Repair, Promotes Cancer Cell Proliferation, and Prevents Therapy-Induced Senescence in Irradiated Tumors.
O-GlcNAcylation regulates cancer metabolism and survival stress signaling via regulation of the HIF-1 pathway.
O-GlcNAcylation-mediated degradation of FBXL2 stabilizes FOXM1 to induce cancer progression.
O-Linked N-Acetylglucosamine (O-GlcNAc) Expression Levels Epigenetically Regulate Colon Cancer Tumorigenesis by Affecting the Cancer Stem Cell Compartment via Modulating Expression of Transcriptional Factor MYBL1.
O-linked N-acetylglucosamine glycosylation of p65 aggravated the inflammation in both fibroblast-like synoviocytes stimulated by tumor necrosis factor-? and mice with collagen induced arthritis.
OGA heterozygosity suppresses intestinal tumorigenesis in Apc(min/+) mice.
Origin of the increased activity of beta-glucuronidase in the soluble fraction of rat mammary tumors during ovariectomy-induced regression.
Physical properties of human serum hexosaminidases A and B: studies in normal and cancer patients.
Properties of a plasma membrane-associated cathepsin B-like cysteine proteinase in metastatic B16 melanoma variants.
Real Talk: The Inter-play Between the mTOR, AMPK, and Hexosamine Biosynthetic Pathways in Cell Signaling.
Resurgence of fetal isozymes in cancer: study of aldolase, pyruvate kinase, lactic dehydrogenase, and beta-hexosaminidase.
Role of glycosidases in human ovarian carcinoma cell mediated degradation of subendothelial extracellular matrix.
Salvia lachnostachys Benth has antitumor and chemopreventive effects against solid Ehrlich carcinoma.
Selinidin suppresses IgE-mediated mast cell activation by inhibiting multiple steps of Fc epsilonRI signaling.
Serum alpha-fucosidase and hexosaminidase as biological markers in human cancer.
Serum beta-N-acetylhexosaminidase, carcinoembryonic antigen & sialic acid in benign & malignant extrahepatic biliary obstruction.
Serum hexosaminidase as a possible biomarker for human cancer.
Studies on the kinetics of glycosidases from chemically-induced rat colonic tumours and normal rat colon.
TA-270 [4-hydroxy-1-methyl-3-octyloxy-7-sinapinoylamino-2(1H)-quinolinone], an anti-asthmatic agent, inhibits leukotriene production induced by IgE receptor stimulation in RBL-2H3 cells.
The multiple forms and kinetic properties of the N-acetyl-beta-D-hexosaminidases from colonic tumours and mucosa of rats treated with 1,2-dimethylhydrazine.
The role of serum and urinary biomarkers in the diagnosis of early diabetic nephropathy in patients with type 2 diabetes.
Urinary tumour necrosis factor-alpha excretion independently correlates with clinical markers of glomerular and tubulointerstitial injury in type 2 diabetic patients.
Variant serum beta-hexosaminidase as a biochemical marker of malignancy.
Vialinin A, a novel potent inhibitor of TNF-alpha production from RBL-2H3 cells.
[Clinical study of nephrotoxicity following cis-diamminedichloroplatinum (II) (CDDP) combination chemotherapy assessed by 131I-OIH renogram]
[Comparison of methods for evaluating the nephrotoxicity of cisplatin]
[Concentration of thyroid stimulating hormone and activity of N-acetyl-beta-D-hexosaminidase and its isoenzymes, in serum of patients with thyroid cancer]
[Enzymatic studies on human carcinoma tissues,--especially, study on beta-N-acetylhexosaminidases in oral and pulmonary carcinomas]
[Glycosidase activity measured in tumor tissue. The N-acetylglucosaminidase (NAFA) activity of breast fibroadenomas in relation to the stage of tumor development]
[Hexosaminidase activity in cell lines, serum and urine of leukemia patients in childhood]
[Immunohistochemical findings in intrathoracic tumors. VI. N-acetyl-beta-glucosaminidase]
[N-acetyl-beta-glucosaminidase (GZ) of peripheral blood lymphocytes in patients with disseminated malignancy (author's transl)]
[Studies on serum and urinary alpha 1-microglobulin levels as parameter of the renal function--renal function observed after CDDP administration]
[The value of the free hydroxyproline and the N-acetyl-beta- glucosaminidase for the observation of the course of malignant tumors]
Nephritis
Crescentic type nephritis induced by anti-glomerular basement membrane (GBM) serum in rats.
Pharmacological studies on experimental nephritic rats (9). Changes in activities of urinary enzymes in the modified type of Masugi's nephritis and their sources.
[Pharmacological studies on experimental nephritic rats (6). Antinephritic effects of sodium chondroitin sulfate and other drugs on modified type of Masugi's nephritis]
Nephrolithiasis
Possible biphasic changes of free radicals in ethylene glycol-induced nephrolithiasis in rats.
Urinary activity of N-acetyl-beta-glucosaminidase in patients with nephrolithiasis.
Nephrotic Syndrome
Molecular forms of beta-hexosaminidase and cathepsin D in serum and urine of healthy subjects and patients with elevated activity of lysosomal enzymes.
Urinary N-acetyl-beta-glucosaminidase in children with idiopathic nephrotic syndrome.
Nervous System Diseases
A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB.
Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.
Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.
The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity.
Neuroblastoma
Comparative in vitro effects of sodium arsenite and sodium arsenate on neuroblastoma cells.
Neurodegenerative Diseases
AAV gene therapy in a sheep model of Tay-Sachs disease.
Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice.
Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases.
Biology and potential strategies for the treatment of GM2 gangliosidoses.
Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin.
Diazaspirononane Nonsaccharide Inhibitors of O-GlcNAcase (OGA) for the Treatment of Neurodegenerative Disorders.
Discovery of a Novel and Brain-Penetrant O-GlcNAcase Inhibitor via Virtual Screening, Structure-Based Analysis, and Rational Lead Optimization.
Discovery of MK-8719, A Potent O-GlcNAcase Inhibitor as a Potential Treatment for Tauopathies.
Elevation of cellular O-GlcNAcylation level by a potent and selective O-GlcNAcase inhibitor based on tetrahydroimidazopyridine scaffold.
Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.
Expression of human beta-hexosaminidase alpha-subunit gene (the gene defect of Tay-Sachs disease) in mouse brains upon engraftment of transduced progenitor cells.
Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.
GM2D gangliosidosis B1 variant in a boy of German/Hungarian descent.
Heterozygote screening for Tay-Sachs disease: past successes and future challenges.
Influence of caloric restriction on motor behavior, longevity, and brain lipid composition in Sandhoff disease mice.
Mechanism of abnormal growth in astrocytes derived from a mouse model of GM2 gangliosidosis.
Modulation of O-GlcNAcylation Regulates Autophagy in Cortical Astrocytes.
O-GlcNAc cycling mutants modulate proteotoxicity in Caenorhabditis elegans models of human neurodegenerative diseases.
Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis.
Phospholipid synthesis is decreased in neuronal tissue in a mouse model of Sandhoff disease.
Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings.
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.
Rapid identification of HEXA mutations in Tay-Sachs patients.
Retrovirus-mediated enzymatic correction of Tay-Sachs defect in transduced and non-transduced cells.
Reversion of the biochemical defects in murine embryonic Sandhoff neurons using a bicistronic lentiviral vector encoding hexosaminidase alpha and beta.
Sandhoff Disease without Hepatosplenomegaly Due to Hexosaminidase B Gene Mutation.
Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic Jews.
Spontaneous appearance of Tay-Sachs disease in an animal model.
The beta-hexosaminidase deficiency disorders: development of a clinical paradigm in the mouse.
The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.
Three novel mutations in Iranian patients with Tay-Sachs disease.
[Recent advances in molecular genetics of GM2 gangliosidosis]
Neuroinflammatory Diseases
Conditional expression of human ß-hexosaminidase in the neurons of Sandhoff disease rescues mice from neurodegeneration but not neuroinflammation.
Neuronal Ceroid-Lipofuscinoses
Bi-functional IgG-lysosomal enzyme fusion proteins for brain drug delivery.
Niemann-Pick Diseases
Bi-functional IgG-lysosomal enzyme fusion proteins for brain drug delivery.
Identification of luminal and secreted proteins in bull epididymis.
Obesity
Catechol effect on the lysosomal enzymes in the adipose tissues of obese and obese-diabetic monkeys.
Real Talk: The Inter-play Between the mTOR, AMPK, and Hexosamine Biosynthetic Pathways in Cell Signaling.
Ocular Motility Disorders
An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia.
Oligohydramnios
[Activity of N-b-D-acetylglucosaminidase molecular forms in amniotic fluid of tobacco smoking pregnant women with oligohydramnios or premature rupture of the membrane complications]
Ophthalmoplegia
Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome.
Osteoarthritis
Activity of N-acetyl-beta-hexosaminidase and its isoenzymes in serum and synovial fluid from patients with different arthropathies.
Gene expression and activity of cartilage-degrading glycosidases in human rheumatoid arthritis and osteoarthritis synovial fibroblasts.
Hexosaminidase inhibitors as new drug candidates for the therapy of osteoarthritis.
N-acetyl-beta-D-hexosaminidase system in synovial fluid.
Novel five-membered iminocyclitol derivatives as selective and potent glycosidase inhibitors: new structures for antivirals and osteoarthritis.
Synthesis and high-throughput screening of N-acetyl-beta-hexosaminidase inhibitor libraries targeting osteoarthritis.
[Hexosaminidase and alkaline phosphatase in cartilage and chondrocyte cultures obtained from normal and arthritic rabbit joints]
Osteosarcoma
Relationship Between O-GlcNAcase Expression and Prognosis of Patients With Osteosarcoma.
Ovarian Neoplasms
Down-regulation of OGT promotes cisplatin resistance by inducing autophagy in ovarian cancer.
Serum hexosaminidase as a possible biomarker for human cancer.
Pancreatic Diseases
Serum lysosomal hydrolases in cystic fibrosis.
Pancreatic Neoplasms
Isoenzymes A and B of N-acetyl-beta-D-hexosaminidase in serum and urine of patients with pancreatic cancer.
Urinary phospholipase A2 excretion in chronic pancreatic diseases.
Pancreatitis
Localization of lysosomal and digestive enzymes in cytoplasmic vacuoles in caerulein-pancreatitis.
Lysosomal activity of pulmonary alveolar macrophages in acute experimental pancreatitis in rats with reference to positive PAF-antagonist (BN 52021) effect.
Renal tubular cell injury and serum phospholipase A2 activity in acute pancreatitis.
Serum B-N-acetyl hexosaminidase levels in rats with experimental acute pancreatitis, small-bowel ischemia, and small-bowel obstruction.
Serum lysosomal hydrolases in cystic fibrosis.
[Activity and subcellular distribution of lysosomal enzymes in acute pancreatitis induced by CDE diet in mice]
Pancreatitis, Chronic
Urinary phospholipase A2 excretion in chronic pancreatic diseases.
Papilloma
Lymphocytes, neutrophils and serum immunoglobulins in patients with precancerous states of the larynx.
The lymphocyte cytochemical equipment and serum immunoglobulins in patients with precancerous states of the larynx.
Paralysis
Development of Specific Fluorogenic Substrates for Human ?-N-Acetyl-D-hexosaminidase A for Cell-Based Assays.
Discovery of MK-8719, A Potent O-GlcNAcase Inhibitor as a Potential Treatment for Tauopathies.
Paraproteinemias
[Amyotrophic lateral sclerosis with multiple myeloma]
Parasitemia
Thioridazine aggravates skeletal myositis, systemic and liver inflammation in Trypanosoma cruzi-infected and benznidazole-treated mice.
Parasitic Diseases
Release of Mediator Enzyme ?-Hexosaminidase and Modulated Gene Expression Accompany Hemocyte Degranulation in Response to Parasitism in the Silkworm Bombyx mori.
Peripheral Nervous System Diseases
[Chronic hexosaminidase A deficiency associated with pure sensory peripheral neuropathy]
Peritonitis
Activation of mast cells induced by agonists of proteinase-activated receptors under normal conditions and during acute inflammation in rats.
VAMP8 is essential in anaphylatoxin-induced degranulation, TNF-alpha secretion, peritonitis, and systemic inflammation.
Persistent Infection
Detachment and killing of Aggregatibacter actinomycetemcomitans biofilms by dispersin B and SDS.
Placental Insufficiency
[N-acetyl-beta-glucosaminidase (NAG) activity in parturients with placental insufficiency in postmature pregnancy and with EPH-gestosis]
Pleural Effusion
Diagnostic potential of lysosomal hydrolases in body cavity effusions.
Diagnostic value of biochemical analysis of pleural effusions. Carcinoembryonic antigen and beta 2 microglobulin.
Pneumonia
Age dependence of serum beta-N-acetylhexosaminidase (NAG) activity.
Polycystic Kidney Diseases
Urinary beta-hexosaminidase excretion in polycystic kidney disease.
Polycystic Kidney, Autosomal Dominant
Functional defects in lysosomal enzymes in autosomal dominant polycystic kidney disease (ADPKD): abnormalities in synthesis, molecular processing, polarity, and secretion.
Polycythemia Vera
N-acetyl-beta-glucosaminidase in lymphocytes of patients with Hodgkin's disease, plasma cell myeloma and primary polycythemia.
Polyuria
Increased ammoniagenesis and the renal tubular effects of potassium depletion.
Porphyrias
Serum beta-N-acetylglucosaminidase in patients with symptomatic porphyria.
Potassium Deficiency
Effect of potassium deficiency and gossypol on urinary N-acetyl-beta-glucosaminidase excretion in the rat.
Pre-Eclampsia
Diurnal variation in excretion of N-acetyl-beta-glucosaminidase during pregnancy: implications for the prediction of pre-eclampsia.
Isoenzymes of N-acetyl-beta-hexosaminidase in complicated pregnancy.
Urinary N-acetyl-beta-glucosaminidase in the prediction of preeclampsia.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Expression of hexosaminidase isoenzymes in childhood leukemia.
Significance of enzyme markers as a part of multiple marker analysis in leukemia research.
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Isoenzyme studies in human leukemia -- III. beta-Hexosaminidase (E.C. 3.2.1.30).
Pregnancy in Diabetics
N-acetyl-beta-glucosaminidase and albuminuria in normal and diabetic pregnancies.
Pregnancy, Prolonged
Isoenzymes of N-acetyl-beta-hexosaminidase in complicated pregnancy.
Primary Dysautonomias
Diarrhea and autonomic dysfunction in a patient with hexosaminidase B deficiency (Sandhoff disease).
Prostatic Hyperplasia
Prostatic hexosaminidase activity in patients with benign prostatic hyperplasia and prostatic carcinoma.
Prostatic Neoplasms
Biochemical methods for predicting metastatic ability of prostatic cancer utilizing the dunning R-3327 rat prostatic adenocarcinoma system as a model.
Hypermethylation contributes to down-regulation of lysosomal ?-hexosaminidase ? subunit in prostate cancer cells.
[Effects of combination chemotherapy with cis-diamminedichloroplatinum (II) (CDDP) on renal function in patients with urogenital malignancies]
Prostatitis
[Changes in N-acetyl-beta-glucosaminidase (NAG) in prostatitis patients]
Protein-Energy Malnutrition
Changes in serum lysosomal hydrolases in marasmus.
Lysosomal enzymuria in protein energy malnutrition.
Metabolism of lysosomal enzymes in the protein-deficient weanling rat.
Proteinuria
A thromboxane A2 synthetase inhibitor retards hypertensive rat diabetic nephropathy.
Blockade of cannabinoid CB1 receptors improves renal function, metabolic profile, and increased survival of obese Zucker rats.
Chondroitin sulfate degradation and eicosanoid metabolism pathways are impaired in focal segmental glomerulosclerosis: Experimental confirmation of an in silico prediction.
Diabetic microangiopathy in KK mice. VI. Effect of glycemic control on renal glycoprotein metabolism and established glomerulosclerosis.
Etiology of increased enzymuria in different morphological forms of glomerulonephritis.
Increased ammoniagenesis and the renal tubular effects of potassium depletion.
Lysosomal enzymes in preeclamptic women in northern Nigeria.
The role of nitric oxide and the renin-angiotensin system in salt-restricted Dahl rats.
Urinary excretion of beta-hexosaminidase in different forms of proteinuria.
[Clinical observation on diabetic nephropathy treated with alcohol of Abelmoschus manihot]
[Pharmacological studies on experimental nephritic rats (11). Changes in pathohistological and biochemical parameters in anti-rat GBM rabbit serum-induced nephritis (author's transl)]
[Prevalence of chronic kidney disease (CKD) and significant contributors to CKD in HIV-infected patients]
[Studies of enzymuria and proteinuria: Report 1: N-acetyl-beta-glucosaminidase in urological diseases]
[Study on urinary splitting enzymes and proteins. III. Effect of non-ionic contrast medium on renal function]
Pyelonephritis
Urinary excretion of beta-hexosaminidase in patients with vesico-ureteric reflux.
Urinary N-acetyl-beta-glucosaminidase in normal Chinese children and children with pyelonephritis.
[The significance of microproteinuria for the diagnosis of kidney involvement in hypertensive disease and secondary forms of arterial hypertension]
Pyometra
Calculation of urinary enzyme excretion, with renal structure and function in dogs with pyometra.
Renal Artery Obstruction
Determination of urinary N-acetyl-beta-glucosaminidase in patients with hypertension and renal artery stenosis.
Renal Insufficiency
A? Influx into the Blood Evoked by Different Blood A? Removal Systems: A Potential Therapy for Alzheimer's Disease.
Beta-2-microglobulin is superior to N-acetyl-beta-glucosaminidase in predicting prognosis in idiopathic membranous nephropathy.
Evaluation of urinary enzymes in dogs with early renal disorder.
Renal Insufficiency, Chronic
Diagnostic significance of different urinary enzymes in patients suffering from chronic renal diseases.
Respiratory Distress Syndrome
Age dependence of serum beta-N-acetylhexosaminidase (NAG) activity.
Respiratory Insufficiency
Cannabinoid-2 Agonism with AM2301 Mitigates Morphine-Induced Respiratory Depression.
Retinal Degeneration
GM1 gangliosidosis type 2 in two siblings.
Retinitis Pigmentosa
Diverse mechanisms of autophagy dysregulation and their therapeutic implications: does the shoe fit?
Retinoblastoma
Colonic aberrant crypts in azoxymethane-treated F344 rats have decreased hexosaminidase activity.
Rhabdomyolysis
Assessment of urinary retinol-binding protein as an index of proximal tubular injury.
Sandhoff Disease
A case of adult onset Sandhoff disease that mimics Brown-Vialetto-Van Laere syndrome.
A case of combined Farber and Sandhoff disease.
A case of GM2-gangliosidosis with total hexosaminidase deficiency.
A common beta hexosaminidase gene mutation in adult Sandhoff disease patients.
A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection.
A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease.
A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case.
A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.
A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition.
Abnormal production of macrophage inflammatory protein-1 alpha by microglial cell lines derived from neonatal brains of Sandhoff disease model mice.
Activity and multiple forms of alpha-L-fucosidase and hexosaminidase in chorion biopsy specimens and some fetal organs.
An enzyme with properties similar to those of beta-N-acetylhexosaminidase S is expressed in the promyelocytic cell line HL-60.
An inducible mouse model of late onset Tay-Sachs disease.
An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.
Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases.
beta-hexosaminidase in cultured normal and mutant human fibroblasts: an immunohistochemical and biochemical investigation.
Beta-N-acetylhexosaminidase activity in human oocytes and preimplantation embryos.
Beta-N-acetylhexosaminidase activity in mouse oocytes and preimplantation embryos.
Carrier detection in Sandhoff disease.
Characterization of residual hexosaminidase activity in Sandhoff's disease using man-Chinese hamster cell hybrids.
Cleavage of the (1 goes to 3)-2-acetamido-2-deoxy-beta-D-glucopyranosyl linkage present in keratan sulfate. The A and B isoenzymes of human liver hexosaminidase (EC 3.2.1.30).
Comparative analysis of brain lipids in mice, cats, and humans with Sandhoff disease.
Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease.
Cultured skin fibroblasts in lipidoses. Enzymatic, histochemical, and ultrastructural relationship in Fabry's Tay-Sachs, and Sandhoff's diseases.
Degradation of keratan sulfate by beta-N-acetylhexosaminidases in GM2-gangliosidosis.
Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin.
Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice.
Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis.
Design, synthesis, and biological evaluation of enantiomeric beta-N-acetylhexosaminidase inhibitors LABNAc and DABNAc as potential agents against Tay-Sachs and Sandhoff disease.
Detection of GM2-gangliosidosis (Tay-Sachs and Sandhoff disease) gene carriers by serum hexosaminidase assay.
Development of infertility at young adult age in a mouse model of human Sandhoff disease.
Development of Specific Fluorogenic Substrates for Human ?-N-Acetyl-D-hexosaminidase A for Cell-Based Assays.
Diagnosing Lysosomal Storage Disorders: The GM2 Gangliosidoses.
Diarrhea and autonomic dysfunction in a patient with hexosaminidase B deficiency (Sandhoff disease).
Distribution and characterization of a Sandhoff disease-associated 50-kb deletion in the gene encoding the human beta-hexosaminidase beta-chain.
DRG-targeted helper-dependent adenoviruses mediate selective gene delivery for therapeutic rescue of sensory neuronopathies in mice.
Effective gene therapy in an authentic model of Tay-Sachs-related diseases.
Elevation of lung surfactant phosphatidylcholine in mouse models of Sandhoff and of Niemann-Pick A disease.
Enzyme immunoassay of beta-hexosaminidase A and B in serum: carrier detection of GM2-gangliosidoses, and equivalence of enzyme activity and enzyme protein reactivity.
Enzyme studies in GM2 gangliosidiosis, and their application in prenatal diagnosis.
Evidence for a hybrid hexosaminidase isoenzyme in heterozygotes for Sandhoff disease.
Evidence for the presence of beta-subunit of hexosaminidase in a case of Sandhoff disease using a blotting technique.
Ganglioside storage, hexosaminidase lability, and urinary oligosaccharides in adult Sandhoff's disease.
Gangliosidosis with total hexosaminidase deficiency: clinical, biochemical and ultrastructural studies and comparison with conventional cases of Tay-Sachs disease.
Genetic cause of a juvenile form of Sandhoff disease. Abnormal splicing of beta-hexosaminidase beta chain gene transcript due to a point mutation within intron 12.
GM2 gangliosidoses: a review of cases confirmed by beta-N-acetylhexosaminidase assay.
Gm2-gangliosidosis with total hexosaminidase deficiency.
Heterozygosity for phosphodiester glycosidase deficiency: a novel human mutation of lysosomal enzyme processing.
Heterozygosity for Tay-Sachs and Sandhoff diseases among Massachusetts residents with French Canadian background.
Hexosaminidase C in Tay-Sachs and Sandhoff disease.
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.
I. Abnormalities in cells of the testis, efferent ducts, and epididymis in juvenile and adult mice with beta-hexosaminidase A and B deficiency.
Impact of premature stop codons on mRNA levels in infantile Sandhoff disease.
Increased lung surfactant phosphatidylcholine in patients affected by lysosomal storage diseases.
Induced secretion of beta-hexosaminidase by human brain endothelial cells: a novel approach in Sandhoff disease?
Inefficiency in GM2 ganglioside elimination by human lysosomal beta-hexosaminidase beta-subunit gene transfer to fibroblastic cell line derived from Sandhoff disease model mice.
Infantile Sandhoff's disease with peripheral neuropathy.
Influence of caloric restriction on motor behavior, longevity, and brain lipid composition in Sandhoff disease mice.
Influence of cell differentiation and protein kinase C activation on sub-cellular distribution of beta-N-acetylhexosaminidases of HL 60 cells.
Inheritance of the enzyme defect in a new hexosaminidase deficiency disease.
Introduction of an N-glycan sequon into HEXA enhances human beta-hexosaminidase cellular uptake in a model of Sandhoff disease.
Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase.
Juvenile Sandhoff disease: some properties of the residual hexosaminidase in cultured fibroblasts.
Laboratory diagnosis of canine GM2-gangliosidosis using blood and cerebrospinal fluid.
Late-onset hexosaminidase A and hexosaminidase A and B deficiency: family study and review.
Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease.
Mechanism of abnormal growth in astrocytes derived from a mouse model of GM2 gangliosidosis.
Metabolic correction in microglia derived from Sandhoff disease model mice.
Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis.
Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation.
Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme.
Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis).
MRI in a case of Sandhoff's disease.
MRS reveals additional hexose N-acetyl resonances in the brain of a mouse model for Sandhoff disease.
N-butyldeoxygalactonojirimycin reduces brain ganglioside and GM2 content in neonatal Sandhoff disease mice.
Neuroimaging findings of four patients with Sandhoff disease.
Nonsense mutation of feline beta-hexosaminidase beta-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats.
Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease.
Occurrence of an anomalous endocytic compartment in fibroblasts from Sandhoff disease patients.
Peripheral nervous system manifestations in a Sandhoff disease mouse model: nerve conduction, myelin structure, lipid analysis.
Phospholipid synthesis is decreased in neuronal tissue in a mouse model of Sandhoff disease.
Pre-embryonic diagnosis for Sandhoff disease.
Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient.
Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: juvenile Sandhoff disease.
Reduced rates of axonal and dendritic growth in embryonic hippocampal neurones cultured from a mouse model of Sandhoff disease.
Restricted ketogenic diet enhances the therapeutic action of N-butyldeoxynojirimycin towards brain GM2 accumulation in adult Sandhoff disease mice.
Reversion of the biochemical defects in murine embryonic Sandhoff neurons using a bicistronic lentiviral vector encoding hexosaminidase alpha and beta.
Role of beta Arg211 in the active site of human beta-hexosaminidase B.
Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I. Statistical methods.
Sandhoff disease in a golden retriever dog.
Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection.
Sandhoff disease in two siblings of a Malaysian family: Description of novel beta hexosaminidase mutations, magnetic resonance imaging, and spectroscopic findings.
Sandhoff disease mimicking adult-onset bulbospinal neuronopathy.
Sandhoff Disease without Hepatosplenomegaly Due to Hexosaminidase B Gene Mutation.
Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in Lebanon.
Sandhoff disease: defective glycosaminoglycan catabolism in cultured fibroblasts and its correction by beta-N-acetylhexosaminidase.
Sandhoff disease: diagnosis of heterozygous carriers by serum hexosaminidase assay.
Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.
Specific induction of macrophage inflammatory protein 1-alpha in glial cells of Sandhoff disease model mice associated with accumulation of N-acetylhexosaminyl glycoconjugates.
Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.
Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
Studies on beta-D-N-acetylhexosaminidase. Various isozymes in tissues of normal subjects and Sandhoff's disease patients.
Studies on hexosaminidase C in cultured skin fibroblasts from patients with Sandhoff's disease.
Substrate deprivation therapy in juvenile Sandhoff disease.
Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards.
Thalamic hyperdensity--is it a diagnostic marker for Sandhoff disease?
The beta-hexosaminidase deficiency disorders: development of a clinical paradigm in the mouse.
The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease.
Therapeutic evaluation of GM2 gangliosidoses by ELISA using anti-GM2 ganglioside antibodies.
Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidase.
Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease.
Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease.
Unusual thermolability properties of leukocyte beta-hexosaminidase: implications in screening for carriers of Tay-Sachs disease.
Validity of lymphoid cell line for enzymatic studies of GM2-gangliosidosis variant 0 (Sandhoff disease).
[A patient with GM2 gangliosidosis presenting with motor neuron disease symptom in his forties]
[Activity and appearance of isoenzyme spectrums of some lysosomal hydrolases in biopsy material of human chorion]
[Detection of homozygotes and heterozygote carriers of GM2-gangliosidosis]
[GM2 gangliosidosis with total beta-N-acetyl-hexosaminidase deficit or Sandhoff's disease]
Sepsis
Effects of polymyxin B immobilized fiber on urinary N-acetyl-beta-glucosaminidase in patients with severe sepsis.
Highly increased levels of serum beta-hexosaminidase, arylsulphatase A and beta-galactosidase in a patient with sepsis.
Silicosis
Serum beta-N-acetylglucosaminidase and beta-glucuronidase activities in silicosis patients and in workers exposed to silica dust.
Serum lysosomal enzyme activities in silicosis and asbestosis.
Sphingolipidoses
Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism.
Sphingolipidoses in Turkey.
Spinal Muscular Atrophies of Childhood
Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype.
Lysosomal enzymes in ataxia: discovery of two new cases of late onset hexosaminidase A and B deficiency (adult Sandhoff disease) in French Canadians.
Spinocerebellar Ataxias
Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil.
Diverse mechanisms of autophagy dysregulation and their therapeutic implications: does the shoe fit?
[Hexosaminidase deficiency as differential spinocerebellar diseases]
Spinocerebellar Degenerations
Ganglioside storage, hexosaminidase lability, and urinary oligosaccharides in adult Sandhoff's disease.
Spinocerebellar degeneration: hexosaminidase A and B deficiency in two adult sisters.
[Hexosaminidase deficiency as differential spinocerebellar diseases]
Starvation
Biochemical differentiation in a mutant of Dictyostelium discoideum defective in cyclic AMP chemotaxis and in intercellular cohesion.
Differential increase in activity of acid phosphatase induced by phosphate starvation in Tetrahymena.
Interaction of ammonium, glucose, and chitin regulates the expression of cell wall-degrading enzymes in Trichoderma atroviride strain P1.
Nutrient-Driven O-GlcNAcylation at Promoters Impacts Genome-Wide RNA Pol II Distribution.
Regulation of N-acetylglucosaminidase production in Candida albicans.
Response of heterogenous rat liver lysosome populations to starvation and refeeding.
Secretion heterogeneity of lysosomal enzymes in Tetrahymena pyriformis.
Stomach Neoplasms
Activity of some lysosomal enzymes in neutrophils from peripheral blood of patients with digestive tract cancer at different clinical stages of the disease. A cytochemical study.
Isoenzymes A and B of N-acetyl-beta-D-hexosaminidase in serum and urine of patients with pancreatic cancer.
Lysosomal enzymes in peripheral blood lymphocytes of patients with gastric cancer.
O-GlcNAcylation-mediated degradation of FBXL2 stabilizes FOXM1 to induce cancer progression.
Stroke
Elevated urinary beta-hexosaminidase in patients with stroke.
Serum beta-hexosaminidase isoenzymes are related to risk factors for atherosclerosis in a large population of postmenopausal women.
Supranuclear Palsy, Progressive
Development of Specific Fluorogenic Substrates for Human ?-N-Acetyl-D-hexosaminidase A for Cell-Based Assays.
Discovery of MK-8719, A Potent O-GlcNAcase Inhibitor as a Potential Treatment for Tauopathies.
Tauopathies
Discovery of MK-8719, A Potent O-GlcNAcase Inhibitor as a Potential Treatment for Tauopathies.
Evaluation of a novel PET radioligand to image O-GlcNAcase in brain and periphery of rhesus monkey and knock-out mouse.
Increased O-GlcNAcylation reduces pathological tau without affecting its normal phosphorylation in a mouse model of tauopathy.
Inhibition of O-GlcNAcase leads to elevation of O-GlcNAc tau and reduction of tauopathy and cerebrospinal fluid tau in rTg4510 mice.
MK-8719, a Novel and Selective O-GlcNAcase Inhibitor That Reduces the Formation of Pathological Tau and Ameliorates Neurodegeneration in a Mouse Model of Tauopathy.
O-GlcNAcase inhibitors as potential therapeutics for the treatment of Alzheimer's disease and related tauopathies: analysis of the patent literature.
Structural studies of a surface-entropy reduction mutant of O-GlcNAcase.
Tay-Sachs Disease
'Cherry red spot' in a patient with Tay-Sachs disease: case report.
31Phosphorus magnetic resonance spectroscopy in late-onset Tay-Sachs disease.
A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.
A deletion involving Alu sequences in the beta-hexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease.
A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease.
A frameshift mutation in a patient with Tay-Sachs disease causes premature termination and defective intracellular transport of the alpha-subunit of beta-hexosaminidase.
A fully automated method for identification of Tay-Sachs disease carriers by tear beta-hexosaminidase assay.
A G to C transversion in codon 258 of the alpha-subunit of beta-hexosaminidase A in an infant Tay-Sachs disease patient.
A gel electrophoretic assay for detecting the insertion defect in Ashkenazi Jewish carriers of Tay-Sachs disease.
A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.
A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.
A new form of residual hexosaminidase activity in infantile Tay Sachs disease fibroblasts.
A new point mutation (G412 to A) at the last nucleotide of exon 3 of hexosaminidase alpha-subunit gene affects splicing.
A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant).
A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-Sachs disease.
A novel mechanism for desulfation of mucin: identification and cloning of a mucin-desulfating glycosidase (sulfoglycosidase) from Prevotella strain RS2.
A novel mutation in the HEXA gene specific to Tay-Sachs disease carriers of Jewish Iraqi origin.
A nursing challenge: adult-onset Tay-Sachs disease.
A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.
A Pst+ polymorphism in the HEXA gene with an unusual geographic distribution.
A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.
A shortened beta-hexosaminidase alpha-chain in an Italian patient with infantile Tay-Sachs disease.
A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase alpha chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease.
A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.
AAV gene therapy in a sheep model of Tay-Sachs disease.
Active arginine residues in beta-hexosaminidase. Identification through studies of the B1 variant of Tay-Sachs disease.
Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice.
Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship.
Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome.
Adult-onset GM2 gangliosidosis diagnosed in a fetus.
Allele-specific amplification of genomic DNA for detection of deletion mutations: identification of a French-Canadian Tay-Sachs mutation.
Amyotrophic lateral sclerosis: concepts in pathogenesis and etiology.
An A-to-G mutation at the +3 position of intron 8 of the HEXA gene is associated with exon 8 skipping and Tay-Sachs disease.
An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia.
An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease.
Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease.
Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.
Assignment of beta-hexosaminidase A alpha-subunit to human chromosomal region 15q23----q24.
Atypical presentation of late-onset Tay-sachs disease.
Automated determination of serum hexosaminidase A by pH inactivation for detection of Tay-Sachs disease heterozygotes.
Automated differentiation and measurement of hexosaminidase isoenzymes in biological fluids and its application to pre- and postnatal detection of Tay-Sachs disease.
Automated thermal fractionation of serum hexosaminidase: effects of alteration in reaction variables and implications for Tay-Sachs disease heterozygote screening.
Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay-Sachs disease.
beta-hexosaminidase in cultured normal and mutant human fibroblasts: an immunohistochemical and biochemical investigation.
Beta-hexosaminidase isoenzyme profiles in serum, plasma, platelets and mononuclear, polymorphonuclear and unfractionated total leukocytes.
beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease.
Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles.
Beta-hexosaminidase: biosynthesis and processing of the normal enzyme, and identification of mutations causing Jewish Tay-Sachs disease.
Beta-N-acetylhexosaminidase activity in human oocytes and preimplantation embryos.
Bi-functional IgG-lysosomal enzyme fusion proteins for brain drug delivery.
Biochemical and molecular aspects of late-onset GM2-gangliosidosis: B1 variant as a prototype.
Biochemical and molecular characterization of mutant hexosaminidase A in a Turkish family.
Biosynthetic labeling of beta-hexosaminidase B: inhibition of the cellular uptake of lysosomal secretions containing [3H]hexosaminidase B by insulin-like growth factor-II in rat C6 glial cells.
Characterization of two Turkish beta-hexosaminidase mutations causing Tay-Sachs disease.
Characterization of unusual hexosaminidase A (HEX A) deficient human mutants.
Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic, and biochemical studies of nine cases.
Cleavage of the (1 goes to 3)-2-acetamido-2-deoxy-beta-D-glucopyranosyl linkage present in keratan sulfate. The A and B isoenzymes of human liver hexosaminidase (EC 3.2.1.30).
Clinical and genetic variations in the syndrome of adult GM2 gangliosidosis resulting from hexosaminidase A deficiency.
Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe.
Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification.
Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program.
Complementation of genetic disease: a velocity sedimentation procedure for the enrichment of heterokaryons.
Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease.
Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis.
Cultured skin fibroblasts in lipidoses. Enzymatic, histochemical, and ultrastructural relationship in Fabry's Tay-Sachs, and Sandhoff's diseases.
Deficiency of the hexosaminidase A activator protein in a case of GM2 gangliosidosis; variant AB.
Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs.
Degradation of keratan sulfate by beta-N-acetylhexosaminidases in GM2-gangliosidosis.
Detection of Tay-Sachs disease carriers among individuals with thermolabile hexosaminidase B.
Detection of Tay-Sachs disease heterozygotes by assay of hexosaminidase A in serum and leukocytes.
Development of Specific Fluorogenic Substrates for Human ?-N-Acetyl-D-hexosaminidase A for Cell-Based Assays.
Diagnosing Lysosomal Storage Disorders: The GM2 Gangliosidoses.
Diagnosis and carrier detection of Tay-Sachs disease: direct determination of hexosaminidase A using 4-methylumbelliferyl derivatives of beta-N-acetylglucosamine-6-sulfate and beta-N-acetylgalactosamine-6-sulfate.
Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil.
Diagnosis of Tay-Sachs disease by estimation of beta-N-acetylhexosaminidase activity using a radiolabeled hyaluronic acid-derived trisaccharide substrate.
Diagnosis of Tay-Sachs disease by hexosaminidase activity in leukocytes and amniotic fluid cells.
Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease.
Discovery of beta-hexosaminidase A deficiency in Tay-Sachs disease.
Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease.
Dysarthria and Stutter as Presenting Symptoms of Late-Onset Tay-Sachs Disease in Three Siblings.
Effective gene therapy in an authentic model of Tay-Sachs-related diseases.
Enzyme immunoassay of beta-hexosaminidase A and B in serum: carrier detection of GM2-gangliosidoses, and equivalence of enzyme activity and enzyme protein reactivity.
Enzyme replacement treatment for Tay-Sachs disease brain cells in culture utilizing concanavalin A-mediated hexosaminidase A uptake: biochemical and morphological evidence of GM2 mobilization.
Enzyme studies in GM2 gangliosidiosis, and their application in prenatal diagnosis.
Estimation of the frequency of hexosaminidase a variant alleles in the American Jewish population.
Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.
Experimental enzyme replacement in genetic and other disorders.
Expression of human beta-hexosaminidase alpha-subunit gene (the gene defect of Tay-Sachs disease) in mouse brains upon engraftment of transduced progenitor cells.
Expression of the beta-hexosaminidase alpha subunit gene with the four-base insertion of infantile Jewish Tay-Sachs disease.
Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency.
Fine assignment of beta-hexosaminidase A alpha-subunit on 15q23-q24 by high resolution in situ hybridization.
First trimester prenatal diagnosis of Tay-Sachs disease using the sulfated synthetic substrate for hexosaminidase A.
First-trimester prenatal diagnosis of Tay-Sachs disease.
Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.
Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program.
Gangliosidosis with total hexosaminidase deficiency: clinical, biochemical and ultrastructural studies and comparison with conventional cases of Tay-Sachs disease.
Generalized accumulation of neutral glycosphingolipids with G M2 ganglioside accumulation in the brain.
Genetic cause of a juvenile form of Tay-Sachs disease in a Lebanese child.
GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A.
GM2 Gangliosidosis in British Jacob Sheep.
GM2-ganglioside metabolism in hexosaminidase A deficiency states: determination in situ using labeled GM2 added to fibroblast cultures.
Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease.
Heterozygote screening for Tay-Sachs disease: past successes and future challenges.
Hexosaminidase A analysis of various biological fluids by pH inactivation for the identification of Tay-Sachs disease genotypes.
Hexosaminidase A deficiency in adults.
Hexosaminidase A deficiency is an uncommon cause of a syndrome mimicking amyotrophic lateral sclerosis.
Hexosaminidase A deficiency manifesting as spinal muscular atrophy of late onset.
Hexosaminidase A deficiency presenting as juvenile progressive dystonia.
Hexosaminidase A deficient adults: presence of alpha chain precursor in cultured skin fibroblasts.
Hexosaminidase A in tears and saliva for rapid identification of Tay-Sachs disease and its carriers.
Hexosaminidase C in brain affected by Tay-Sachs Disease.
Hexosaminidase contamination in bovine serum albumin: a potential problem in screening for gene carriers of Tay-Sachs disease.
Human hexosaminidase isozymes. IV. Effects of oral contraceptive steroids on serum hexosaminidase activity.
Human hexosaminidase isozymes: chromatographic separation as an aid to heterozygote identification.
Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.
Identification of 7th hexosaminidase A mutation of Tay-Sachs disease in the Turkish population.
Identification of an altered splice site in Ashkenazi Tay-Sachs disease.
Identification of Tay-Sachs by hexosaminidase analysis of urine and tear samples.
II. Characterization and development of the regional- and cellular-specific abnormalities in the epididymis of mice with beta-hexosaminidase A deficiency.
Immunochemical characterization of human beta-D-N-acetyl hexosaminidase from normal individuals and patients with Tay-Sachs disease. I. Antigenic differences between hexosaminidase A and hexosaminidase B.
In silico analyses of essential interactions of iminosugars with the Hex A active site and evaluation of their pharmacological chaperone effects for Tay-Sachs disease.
In-silico screening and microsecond molecular dynamics simulations to identify single point mutations that destabilize ?-hexosaminidase A causing Tay-Sachs disease.
Inheritance of the enzyme defect in a new hexosaminidase deficiency disease.
Intracellular degradation of sulforhodamine-GM1: use for a fluorescence-based characterization of GM2-gangliosidosis variants in fibroblasts and white blood cells.
Intravenous injection of purified hexosaminidase A into a patient with Tay-Sachs disease.
Introduction of the alpha subunit mutation associated with the B1 variant of Tay-Sachs disease into the beta subunit produces a beta-hexosaminidase B without catalytic activity.
Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease.
Late onset hexosaminidase A deficiency in a young adult.
Late-onset hexosaminidase A and hexosaminidase A and B deficiency: family study and review.
Late-onset hexosaminidase A deficiency mimicking primary lateral sclerosis.
Late-onset Tay-Sachs disease presenting as catatonic schizophrenia: diagnostic and treatment issues.
Long-term intracellular retention of hexosaminidase A by Tay-Sachs disease brain and lung cells in vitro.
Low levels of beta hexosaminidase A in healthy individuals with apparent deficiency of this enzyme.
Lymphoblastoid cell lines, transformed by Epstein-Barr virus, in the enzymatic study of hereditary lysosomal storage diseases.
Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease.
Lysosomal storage of oligosaccharide and glycosphingolipid in imino sugar treated cells.
Marked variation in blood beta-hexosaminidase in Gaucher disease.
Maternal serum hexosaminidase A in pregnancy: effects of gestational age and fetal genotype.
Medical conditions in Ashkenazi schizophrenic pedigrees.
Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.
Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.
Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.
Molecular basis of heat labile hexosaminidase B among Jews and Arabs.
Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch.
Molecular epidemiology of Tay-Sachs disease in Europe.
Molecular forms of beta-N-acetylhexosaminidase in Epstein-Barr virus-transformed lymphoid cell lines from normal subjects and patients with Tay-Sachs disease.
More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians.
Motor neuron disease and adult hexosaminidase A deficiency in two families: evidence for multisystem degeneration.
Movement disorders associated with chronic GM2 gangliosidosis. Case report and review of the literature.
Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a compound-heterozygous Ashkenazi Jewish patient with Tay-Sachs disease.
Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.
Mutations of the hexosaminidase A gene in Ashkenazi and non-Ashkenazi Jews.
N-acetylhexosaminidase activities in Tay-Sachs disease.
Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease.
Neuropathology of chronic GM2 gangliosidosis due to hexosaminidase A deficiency.
Neuropsychiatric aspects of adult-onset Tay-Sachs disease: two case reports with several new findings.
Normal transcription of the beta-hexosaminidase alpha-chain gene in the Ashkenazi Tay-Sachs mutation.
Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy.
Novel mutations, including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease.
Novel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease.
Organization of the gene encoding the human beta-hexosaminidase alpha-chain.
Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.
Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis.
Post-partum psychosis in adult GM2 gangliosidosis. A case report.
Prenatal and postnatal studies of a late infantile GM2 gangliosidosis in a family of Syrian origin: a possible B1 variant.
Prenatal diagnosis and fetal pathology of Tay-Sachs disease.
Prenatal diagnosis of a Japanese family at risk for Tay-Sachs disease. Application of a fluorescent competitive allele-specific polymerase chain reaction (PCR) method.
Prenatal diagnosis of Tay-Sachs disease in cell-free amniotic fluid.
Prenatal diagnosis of Tay-Sachs disease with heat-labile beta-hexosaminidase B.
Prenatal Diagnosis of Tay-Sachs Disease.
Prenatal diagnosis of Tay-Sachs disease. Reflectometry of hexosaminidase A, B, and C/S bands on zymograms.
Prenatal diagnosis of Tay-Sachs disease: studies on the reliability of hexosaminidase levels in amniotic fluid.
Presence of beta-hexosaminidase A alpha-chain mRNA in two different variants of GM2-gangliosidosis.
Primer system for single cell detection of double mutation for Tay-Sachs disease.
Progranulin associates with hexosaminidase A and ameliorates GM2 ganglioside accumulation and lysosomal storage in Tay-Sachs disease.
Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings.
Progressive dystonia symptomatic of juvenile GM2 gangliosidosis.
Radioimmunoassay and heat denaturation enzyme assay for the detection of Tay-sachs heterozygotes during pregnancy.
Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.
Rapid identification of HEXA mutations in Tay-Sachs patients.
Rapid nonradioactive tracer method for detecting carriers of the major Ashkenazi Jewish Tay-Sachs disease mutations.
Rapid test for the detection of Tay-Sachs disease heterozygotes and homozygotes by serum hexosaminidase assay.
Restoration of hexosaminidase A activity in human Tay-Sachs fibroblasts via adenoviral vector-mediated gene transfer.
Retrovirus-mediated enzymatic correction of Tay-Sachs defect in transduced and non-transduced cells.
Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I. Statistical methods.
Serum hexosaminidase activity in I-cell disease carriers.
Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments.
Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic Jews.
Specificity of mouse GM2 activator protein and beta-N-acetylhexosaminidases A and B. Similarities and differences with their human counterparts in the catabolism of GM2.
Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group.
Spontaneous appearance of Tay-Sachs disease in an animal model.
Structural consequences of amino acid substitutions causing Tay-Sachs disease.
Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis.
Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs disease.
Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards.
Tay-Sachs and Sandhoff-Jatzkewitz diseases: complementation of hexosaminidase A deficiency by somatic cell hybridization.
Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population.
Tay-sachs disease and related disorders: Fractionation of brain N-acetyl-beta-hexosaminidase on DEAE-cellulose.
Tay-Sachs disease as a model for screening inborn errors.
Tay-Sachs disease brain cells in culture: mobilization of stored GM2 after concanavalin A-mediated uptake of hexosaminidase A.
Tay-Sachs disease heterozygote detection in Brazil: comparison between tears and leukocytes as beta-hexosaminidase A source.
Tay-Sachs disease heterozygote detection: use of a centrifugal analyser for automation of hexosaminidase assays with two different artificial substrates.
Tay-Sachs disease in an Israeli Arab family: Trp26-->stop in the alpha-subunit of hexosaminidase A.
Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidase.
Tay-Sachs disease mutations in HEXA target the ? chain of hexosaminidase A to endoplasmic reticulum-associated degradation.
Tay-Sachs disease with altered beta-hexosaminidase B: a new variant?
Tay-Sachs disease with atypical chronic course and limited brain storage: alpha-locus hexosaminidase genetic compound.
Tay-Sachs disease with hexosaminidase A: characterization of the defective enzyme in two patients.
Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.
Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay.
Tay-Sachs disease: a case report.
Tay-Sachs disease: abbreviated serum hexosaminidase A test from finger-tip samples.
Tay-Sachs disease: an improved, fully-automated method for heterozygote identification by tear beta-hexosaminidase assay.
Tay-Sachs disease: B1 variant.
Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component.
Tay-Sachs disease: intron 7 splice junction mutation in two Portuguese patients.
Tay-Sachs disease: one-step assay of beta-N-acetylhexosaminidase in serum with a sulphated chromogenic substrate.
Tay-Sachs disease: ultrastructural studies on cultured fibroblasts.
Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.
The beta-hexosaminidase deficiency disorders: development of a clinical paradigm in the mouse.
The biochemical genetics of the hexosaminidase system in man.
The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders.
The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada.
The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity.
The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase.
The major mutation among Japanese patients with infantile Tay-Sachs disease: a G-to-T transversion at the acceptor site of intron 5 of the beta-hexosaminidase alpha gene.
The mutation mechanism causing juvenile-onset Tay-Sachs disease among Lebanese.
The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.
The natural history of cognitive dysfunction in late-onset GM2 gangliosidosis.
The prenatal diagnosis of Tay-Sachs disease.
The Tay-Sachs disease fibroblast model: failure to respond to exogenous hexosaminidase A.
The Val192Leu mutation in the alpha-subunit of beta-hexosaminidase A is not associated with the B1-variant form of Tay-Sachs disease.
Therapeutic evaluation of GM2 gangliosidoses by ELISA using anti-GM2 ganglioside antibodies.
Thermal activation of hexosaminidase A in a genetic compound with Tay-Sachs disease.
Thermolabile hexosaminidase (Hex) B: diverse frequencies among Jewish communities and implication for screening of sera for Hex A deficiencies.
Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease.
Three novel mutations in Iranian patients with Tay-Sachs disease.
Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy: An ALS mimicker.
Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.
Ultrastructural pathology of dermal axons and Schwann cells in lysosomal diseases.
Unusual case of Juvenile Tay-Sachs disease.
Unusual thermolability properties of beta-hexosaminidase: studies of enzyme from cultured cells and clinical implications.
Unusual thermolability properties of leukocyte beta-hexosaminidase: implications in screening for carriers of Tay-Sachs disease.
Use of 4-methylumbelliferyl-6-sulpho-2-acetamido-2-deoxy-beta- D-glucopyranoside for prenatal diagnosis of Tay-Sachs disease using chorionic villi.
Usefulness of 4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-beta-D-glucopyrano sid e for the diagnosis of GM2 gangliosidoses in leukocytes.
W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.
[Activity and appearance of isoenzyme spectrums of some lysosomal hydrolases in biopsy material of human chorion]
[Amyotrophic lateral sclerosis with multiple myeloma]
[Chronic hexosaminidase A deficiency associated with pure sensory peripheral neuropathy]
[Clinical, biochemical and ultrastructural study of a case of Tay-Sachs disease with hexosaminidase deficiency]
[Detection of homozygotes and heterozygote carriers of GM2-gangliosidosis]
[Hexosaminidase deficiency as differential spinocerebellar diseases]
[Preliminary results in the prenatal diagnosis of Tay-Sachs disease by isoelectric focusing of hexosaminidase A (author's transl)]
[Spinal muscular atrophy: a hexosaminidase A deficiency phenotype]
[Tay-Sachs disease in non-Jewish infant in Israel].
[Tay-Sachs disease with hexosaminidase deficiency. Clinical, morphological and biochemical findings in a case with visceral storage of renal globosides]
[Tay-Sachs disease: a case report. Interest of ultrastructural studies of cultured skin fibroblasts (author's transl)]
[Tay-Sachs disease: a case report]
[Tay-Sachs disease]
[Tourettism, hemiballism and juvenile Parkinsonism: expanding the clinical spectrum of the neurodegeneration associated to pantothenate kinase deficiency (Hallervorden Spatz syndrome)]
Tay-Sachs Disease, AB Variant
Diagnosing Lysosomal Storage Disorders: The GM2 Gangliosidoses.
Testicular Neoplasms
Urinary excretion of alanine-aminopeptidase and N-acetyl-beta-D-glucosaminidase during sequential combination chemotherapy.
Tetanus
Neuronal lysosomal enzyme replacement using fragment C of tetanus toxin.
Thrombophlebitis
Glycosaminoglycan-degrading enzymes in the varicose vein wall.
Thyroid Neoplasms
[Concentration of thyroid stimulating hormone and activity of N-acetyl-beta-D-hexosaminidase and its isoenzymes, in serum of patients with thyroid cancer]
Triple Negative Breast Neoplasms
Diverse mechanisms of autophagy dysregulation and their therapeutic implications: does the shoe fit?
Tuberculosis
Mast cell activation by Mycobacterium tuberculosis: mediator release and role of CD48.
Tuberculosis, Pulmonary
Intracellular levels and extracellular release of lysosomal enzymes from peripheral blood monocytes in pulmonary tuberculosis patients.
Urinary Bladder Neoplasms
Blockage of O-linked GlcNAcylation induces AMPK-dependent autophagy in bladder cancer cells.
Role of urinary beta-glucuronidase in human bladder cancer.
Tumor M2-PK: A novel urine marker of bladder cancer.
Urinary Calculi
The effect of extracorporeal electromagnetic shock waves on renal proximal tubular function.
[The changes in retinol-binding protein, N-acetyl-beta-glucosaminidase, albumin and IgG in urine before and after ESWL]
Urinary Tract Infections
N-acetyl-beta-glucosaminidase in the localization of the site of urinary tract infections.
Urinary N-acetyl-beta-glucosaminidase and beta-2-microglobulin in the diagnosis of urinary tract infection in febrile infants.
Urinary N-acetyl-beta-glucosaminidase and the selection of children for radiologic evaluation after urinary tract infection.
Urogenital Neoplasms
[Effects of combination chemotherapy with cis-diamminedichloroplatinum (II) (CDDP) on renal function in patients with urogenital malignancies]
Urolithiasis
Increased urinary excretion of renal enzymes in idiopathic calcium oxalate nephrolithiasis.
Urologic Diseases
[Studies of enzymuria and proteinuria: Report 1: N-acetyl-beta-glucosaminidase in urological diseases]
Uterine Cervical Neoplasms
Histochemical studies on N-acetyl-beta-galactosaminidase and N-acetyl-beta-glucosaminidase in the cancer of the uterine cervix.
O-linked GlcNAcylation elevated by HPV E6 mediates viral oncogenesis.
Varicose Veins
Glycosaminoglycan-degrading enzymes in the varicose vein wall.
Vascular Diseases
beta-Hexosaminidase isoenzymes A and B in middle-aged and elderly subjects: determinants of plasma levels and relation to vascular disease.
Plasma beta-hexosaminidase isoenzymes A and B in patients with cerebral infarction.
Vascular System Injuries
Age dependence of serum beta-N-acetylhexosaminidase (NAG) activity.
Vesico-Ureteral Reflux
Renal tubular markers as screening tools for severe vesicoureteral reflux.
Urinary N-acetyl-beta-glucosaminidase as a screening technique for vesicoureteral reflux.
Virus Diseases
Chitins and chitosans as immunoadjuvants and non-allergenic drug carriers.
Effect of caprine arthritis-encephalitis virus infection on milk cell count and N-acetyl-beta-glucosaminidase activity in dairy goats.
Role of membrane phospholipids and glycolipids in the Vero cell surface receptor for rubella virus.
Whooping Cough
A mastoparan analog without lytic effects and its stimulatory mechanisms in mast cells.
Alteration of mast cell responsiveness to adenosine by pertussis toxin.
Degranulation and cytokine expression in human cord blood-derived mast cells cultured in serum-free medium with recombinant human stem cell factor.
Endocrine disrupting chemical atrazine causes degranulation through Gq/11 protein-coupled neurosteroid receptor in mast cells.
Mitocryptide-2: purification, identification, and characterization of a novel cryptide that activates neutrophils.
Pertussis but not cholera toxin inhibits the stimulated increase in actin association with the cytoskeleton in rabbit neutrophils: role of the "G proteins" in stimulus-response coupling.
Requirement of phosphatidylinositol 3-kinase activation and calcium influx for leukotriene B4-induced enzyme release.
Role of a putative polysaccharide locus in Bordetella biofilm development.
The neutrophil-activating protein (HP-NAP) of Helicobacter pylori is a potent stimulant of mast cells.