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Disease on EC 3.5.1.124 - protein deglycase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Acute Lung Injury
Elevation of Serum PARK7 and IL-8 Levels Is Associated With Acute Lung Injury in Patients With Severe Sepsis/Septic Shock.
Adenocarcinoma of Lung
Comparative Secretome Analyses Using a Hollow Fiber Culture System with Label-free Quantitative Proteomics Indicates the Influence of PARK7 on Cell Proliferation and Migration/Invasion in Lung Adenocarcinoma.
Adrenal Hyperplasia, Congenital
Heterozygotes and cryptic patients in families of patients with congenital adrenal hyperplasia (21-hydroxylase deficiency). HLA and glyoxalase I typing and hormonal studies.
Alzheimer Disease
20S proteasome and glyoxalase 1 activities decrease in erythrocytes derived from Alzheimer's disease patients.
An in silico analysis of deleterious single nucleotide polymorphisms and molecular dynamics simulation of disease linked mutations in genes responsible for neurodegenerative disorder.
Neural Glyoxalase Pathway Enhancement by Morin Derivatives in an Alzheimer's Disease Model.
Novel Insights into PARK7 (DJ-1), a Potential Anti-Cancer Therapeutic Target, and Implications for Cancer Progression.
Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases.
Phenotyping of an in vitro model of ischemic penumbra by iTRAQ-based shotgun quantitative proteomics.
Restoration of glyoxalase enzyme activity precludes cognitive dysfunction in a mouse model of Alzheimer's disease.
Role for glyoxalase I in Alzheimer's disease.
Role of the Glyoxalase System in Alzheimer's Disease.
The Missing Heritability of Sporadic Frontotemporal Dementia: New Insights from Rare Variants in Neurodegenerative Candidate Genes.
[The expression of DJ-1 protein in proteomic analysis of late-onset Alzheimer disease]
Amyotrophic Lateral Sclerosis
The Missing Heritability of Sporadic Frontotemporal Dementia: New Insights from Rare Variants in Neurodegenerative Candidate Genes.
Anemia, Hypochromic
Melatonin application reduces fluoride uptake and toxicity in rice seedlings by altering abscisic acid, gibberellin, auxin and antioxidant homeostasis.
Arthritis
Possible role of methylglyoxal and glyoxalase in arthritis.
Asthenozoospermia
Down-regulation of DJ-1 protein in the ejaculated spermatozoa from Chinese asthenozoospermia patients.
PARK7 protein translocating into spermatozoa mitochondria in Chinese asthenozoospermia.
S-allyl cysteine ameliorates the quality of sperm and provides protection from age-related sperm dysfunction and oxidative stress in rats.
Asthma
Genetic-biochemical criteria for individual sensitivity in development of occupational bronchopulmonary diseases.
Astrocytoma
Prognostic significance of nuclear DJ-1 expression in astrocytoma.
Atherosclerosis
DJ-1 protein regulates CD3+ T cell migration via overexpression of CXCR4 receptor.
Bacterial Infections
Defence against methylglyoxal in Group A Streptococcus: a role for Glyoxylase I in bacterial virulence and survival in neutrophils?
Beriberi
Glyoxalase in Avian Beriberi.
Brachydactyly
Brachydactyly and short stature in a kindred with early-onset parkinsonism.
Brain Ischemia
Neuroprotective effect of resveratrol against brain ischemia reperfusion injury in rats entails reduction of DJ-1 protein expression and activation of PI3K/Akt/GSK3b survival pathway.
Breast Neoplasms
Alteration of Glyoxalases Genes Expression in Response to Testosterone in LNCaP and PC3 Human Prostate Cancer Cells.
Clinical significance of DJ-1 as a secretory molecule: retrospective study of DJ-1 expression at mRNA and protein levels in ductal carcinoma of the breast.
DJ-1 protein expression as a predictor of pathological complete remission after neoadjuvant chemotherapy in breast cancer patients.
Evaluation of a panel of tumor-associated antigens in breast cancer.
Expression of glyoxalase I and II in normal and breast cancer tissues.
High levels of DJ-1 protein and isoelectric point 6.3 isoform in sera of breast cancer patients.
High levels of DJ-1 protein in nipple fluid of patients with breast cancer.
NRG-1 Stimulates Serum DJ-1 Increase in Breast Cancers.
Protein arginine deiminase 4 antagonizes methylglyoxal-induced histone glycation.
Bronchitis, Chronic
Genetic-biochemical criteria for individual sensitivity in development of occupational bronchopulmonary diseases.
Burkitt Lymphoma
Glyoxalase activity and cell proliferation in Burkitt's lymphoma and transformed lymphoblast cells in vitro.
Carcinogenesis
Anti-Apoptotic and Anti-Oxidant Proteins in Glioblastomas: Immunohistochemical Expression of Beclin and DJ-1 and Its Correlation with Prognosis.
DJ-1 is activated in medulloblastoma and is associated with cell proliferation and differentiation.
DJ-1 promotes development of DEN-induced hepatocellular carcinoma and proliferation of liver cancer cells.
Glyoxalase in tumourigenesis and multidrug resistance.
Inhibitory effect of tartrate against phosphate-induced DJ-1 aggregation.
Neurotrophin 3/TrkC-regulated proteins in the human medulloblastoma cell line DAOY.
Carcinoma
Clinical significance of DJ-1 as a secretory molecule: retrospective study of DJ-1 expression at mRNA and protein levels in ductal carcinoma of the breast.
Differing expression of enzymes of the glyoxalase system in superficial and invasive bladder carcinomas.
DJ-1: A novel independent prognostic marker for survival in glottic squamous cell carcinoma.
Protecting the genome: defence against nucleotide glycation and emerging role of glyoxalase I overexpression in multidrug resistance in cancer chemotherapy.
ROS-induced nanotherapeutic approach for ovarian cancer treatment based on the combinatorial effect of photodynamic therapy and DJ-1 gene suppression.
The antioxidant protein PARK7 plays an important role in cell resistance to Cisplatin-induced apoptosis in case of clear cell renal cell carcinoma.
Up-regulated expression of the MAT-8 gene in prostate cancer and its siRNA-mediated inhibition of expression induces a decrease in proliferation of human prostate carcinoma cells.
Carcinoma, Ductal
Clinical significance of DJ-1 as a secretory molecule: retrospective study of DJ-1 expression at mRNA and protein levels in ductal carcinoma of the breast.
Carcinoma, Hepatocellular
Molecular docking and dynamic studies of a potential therapeutic target inhibiting glyoxalase system: Metabolic action of the 3, 3 '- [3- (5-chloro-2-hydroxyphenyl) -3-oxopropane-1, 1-diyl] - Bis-4-hydroxycoumarin leads overexpression of the intracellular level of methylglyoxal and induction of a pro-apoptotic phenomenon in a hepatocellular carcinoma model.
Carcinoma, Intraductal, Noninfiltrating
High levels of DJ-1 protein in nipple fluid of patients with breast cancer.
Carcinoma, Renal Cell
The antioxidant protein PARK7 plays an important role in cell resistance to Cisplatin-induced apoptosis in case of clear cell renal cell carcinoma.
Carcinoma, Squamous Cell
DJ-1: A novel independent prognostic marker for survival in glottic squamous cell carcinoma.
Effect of DJ-1 overexpression on the proliferation, apoptosis, invasion and migration of laryngeal squamous cell carcinoma SNU-46 cells through PI3K/AKT/mTOR.
Cardiovascular Diseases
Glyoxalase in diabetes, obesity and related disorders.
The role of methylglyoxal and the glyoxalase system in diabetes and other age-related diseases.
Cataract
Glyoxalase I activity and immunoreactivity in the aging human lens.
Celiac Disease
Expression of PARK7 is increased in celiac disease.
PARK7 Diminishes Oxidative Stress-Induced Mucosal Damage in Celiac Disease.
Cholangiocarcinoma
DJ-1 is a useful biomarker for invasive extrahepatic cholangiocarcinoma.
Colitis, Ulcerative
Emerging views of mitophagy in immunity and autoimmune diseases.
Colorectal Neoplasms
Clinical significance of AGE-RAGE axis in colorectal cancer: associations with glyoxalase-I, adiponectin receptor expression and prognosis.
Crohn Disease
Emerging views of mitophagy in immunity and autoimmune diseases.
Immunomodulatory role of Parkinson's disease 7 in inflammatory bowel disease.
Dehydration
Nitrate reductase is required for salicylic acid-induced water stress tolerance of pepper by upraising the AsA-GSH pathway and glyoxalase system.
Dementia
Mutation Analysis of the Genes Associated with Parkinson's Disease in a Finnish Cohort of Early-Onset Dementia.
The Missing Heritability of Sporadic Frontotemporal Dementia: New Insights from Rare Variants in Neurodegenerative Candidate Genes.
Diabetes Complications
Erythrocyte glyoxalase activity in genetically obese (ob/ob) and streptozotocin diabetic mice.
Flow cytometric analysis of glyoxalase-1 expression in human leukocytes.
Glyoxalase system in clinical diabetes mellitus and correlation with diabetic complications.
Increased levels of methylglyoxal-metabolizing enzymes in mononuclear and polymorphonuclear cells from insulin-dependent diabetic patients with diabetic complications: aldose reductase, glyoxalase I, and glyoxalase II--a clinical research center study.
Oral administration of methylglyoxal leads to kidney collagen accumulation in the mouse.
Pathophysiological role of the glyoxalase system in renal hypoxic injury.
[Participation of glyoxalases and methylglyoxal in diabetic complication development]
Diabetes Mellitus
Flow cytometric analysis of glyoxalase-1 expression in human leukocytes.
Genetic susceptibility to diabetes mellitus: the distribution of properdin factor B (Bf) and glyoxalase (GLO) phenotypes.
Glyoxalase phenotypes in patients with diabetes mellitus.
Glyoxalase system in clinical diabetes mellitus and correlation with diabetic complications.
Increased serum D-lactate associated with diabetic ketoacidosis.
Modification of the glyoxalase system in clinical diabetes mellitus.
Modification of the glyoxalase system in human red blood cells by glucose in vitro.
Monosaccharide autoxidation in health and disease.
The assay of S-D-lactoylglutathione in biological systems.
The human red blood cell glyoxalase system in diabetes mellitus.
The reaction of methylglyoxal with aminoguanidine under physiological conditions and prevention of methylglyoxal binding to plasma proteins.
Troglitazone selectively inhibits glyoxalase I gene expression.
[A role of oxidative stress in the pathogenesis of diabetic nephropathy and the possibility of its correction with ?-lipoic acid preparations].
Diabetes Mellitus, Type 1
A multicenter study on HLA and autoimmunity in Japanese patients with early-onset insulin-dependent diabetes mellitus (IDDM): the JDS Study.
Association studies between Type 1 (insulin-dependent) diabetes and 27 genetic markers: lack of association between Type 1 diabetes and Kidd blood group.
Factor B (Bf) and glyoxalase genes in insulin-dependent diabetes mellitus.
Glyoxalase system in clinical diabetes mellitus and correlation with diabetic complications.
Immunogenetics of early-onset insulin-dependent diabetes mellitus among the Japanese: HLA, Gm, BF, GLO, and organ-specific autoantibodies--the J.D.S. study.
The search for heterogeneity in insulin-dependent diabetes mellitus (IDDM): linkage studies, two-locus models, and genetic heterogeneity.
Diabetes Mellitus, Type 2
GLP-1 improves adipose tissue glyoxalase activity and capillarization improving insulin sensitivity in type 2 diabetes.
Glyoxalase system in clinical diabetes mellitus and correlation with diabetic complications.
Methylglyoxal and a spinal TRPA1-AC1-Epac cascade facilitate pain in the db/db mouse model of type 2 diabetes.
Role of DJ-1 in Immune and Inflammatory Diseases.
Diabetic Angiopathies
Pterostilbene prevents methylglyoxal-induced cytotoxicity in endothelial cells by regulating glyoxalase, oxidative stress and apoptosis.
Diabetic Nephropathies
Glyoxalase in diabetes, obesity and related disorders.
Diabetic Retinopathy
Glyoxalase System as a Therapeutic Target against Diabetic Retinopathy.
Endometriosis
Expression of DJ-1 and mTOR in Eutopic and Ectopic Endometria of Patients with Endometriosis and Adenomyosis.
[Genetic aspects of endometriosis: features of the distribution of polymorphic gene frequencies]
Frontotemporal Lobar Degeneration
DJ-1 (PARK7) is associated with 3R and 4R tau neuronal and glial inclusions in neurodegenerative disorders.
Gastrointestinal Diseases
Expression of PARK7 is increased in celiac disease.
Immunomodulatory role of Parkinson's disease 7 in inflammatory bowel disease.
Glioblastoma
Correction: PARK7 maintains the stemness of glioblastoma stem cells by stabilizing epidermal growth factor receptor variant III.
PARK7 maintains the stemness of glioblastoma stem cells by stabilizing epidermal growth factor receptor variant III.
Prognostic significance of nuclear DJ-1 expression in astrocytoma.
Glioma
Methylglyoxal alters glucose metabolism and increases AGEs content in C6 glioma cells.
Methylglyoxal Induces Changes in the Glyoxalase System and Impairs Glutamate Uptake Activity in Primary Astrocytes.
MicroRNA-544 inhibits glioma proliferation, invasion and migration but induces cell apoptosis by targeting PARK7.
PARK7 maintains the stemness of glioblastoma stem cells by stabilizing epidermal growth factor receptor variant III.
Role of DJ-1-induced PTEN down-regulation in migration and invasion of human glioma cells.
Graves Disease
Properdin factor B (Bf) and glyoxalase in Graves' disease.
[Genetic factors Bf and glyoxalase in Basedow's disease]
Heart Arrest
Featured Article: Pyruvate preserves antiglycation defenses in porcine brain after cardiac arrest.
Hepatitis
HLA A1, B8, DR3 extended haplotypes in autoimmune chronic hepatitis.
Hepatitis, Chronic
HLA A1, B8, DR3 extended haplotypes in autoimmune chronic hepatitis.
Huntington Disease
An in silico analysis of deleterious single nucleotide polymorphisms and molecular dynamics simulation of disease linked mutations in genes responsible for neurodegenerative disorder.
Novel Insights into PARK7 (DJ-1), a Potential Anti-Cancer Therapeutic Target, and Implications for Cancer Progression.
Hyperalgesia
Electroacupuncture Alleviates Diabetic Peripheral Neuropathy by Regulating Glycolipid-Related GLO/AGEs/RAGE Axis.
Hyperglycemia
Determination of rat blood S-D-lactoylglutathione by a column-switching high-performance liquid chromatography with precolumn fluorescence derivatization with 4-fluoro-7-nitro-2,1,3-benzoxadiazole.
Hyperpigmentation
Glyoxalase System in the Progression of Skin Aging and Skin Malignancies.
Hypersensitivity
Oryza sativa drought-, heat-, and salt-induced RING finger protein 1 (OsDHSRP1) negatively regulates abiotic stress-responsive gene expression.
The sunless tanning agent dihydroxyacetone induces stress response gene expression and signaling in cultured human keratinocytes and reconstructed epidermis.
Hypoglycemia
Identification of the Protective Role of DJ-1 in Hypoglycemic Astrocyte Injury Using Proteomics.
Infarction, Middle Cerebral Artery
Oxidative stress induction of DJ-1 protein in reactive astrocytes scavenges free radicals and reduces cell injury.
Infections
Carbonyl stress phenomena during chronic infection with Opisthorchis felineus.
Characterization of the glyoxalase I gene from the vascular wilt fungus Verticillium dahliae.
Enterovirus 71 induces neural cell apoptosis and autophagy through promoting ACOX1 downregulation and ROS generation.
Glyoxalase I-4 functions downstream of NAC72 to modulate downy mildew resistance in grapevine.
Infertility
PARK7 protein translocating into spermatozoa mitochondria in Chinese asthenozoospermia.
Infertility, Male
Down-regulation of DJ-1 protein in the ejaculated spermatozoa from Chinese asthenozoospermia patients.
Downregulation of DJ-1 Fails to Protect Mitochondrial Complex I Subunit NDUFS3 in the Testes and Contributes to the Asthenozoospermia.
Role of DJ-1 in Immune and Inflammatory Diseases.
Inflammatory Bowel Diseases
Emerging views of mitophagy in immunity and autoimmune diseases.
Immunomodulatory role of Parkinson's disease 7 in inflammatory bowel disease.
Insulin Resistance
AGE/RAGE/DIAPH1 axis is associated with immunometabolic markers and risk of insulin resistance in subcutaneous but not omental adipose tissue in human obesity.
Carbonyl stress phenomena during chronic infection with Opisthorchis felineus.
GLP-1 improves adipose tissue glyoxalase activity and capillarization improving insulin sensitivity in type 2 diabetes.
[A role of oxidative stress in the pathogenesis of diabetic nephropathy and the possibility of its correction with ?-lipoic acid preparations].
Ischemic Stroke
DJ-1/PARK7: A New Therapeutic Target for Neurodegenerative Disorders.
The Clinical Relevance of Serum NDKA, NMDA, PARK7, and UFDP Levels with Phlegm-Heat Syndrome and Treatment Efficacy Evaluation of Traditional Chinese Medicine in Acute Ischemic Stroke.
Ketosis
In vitro effect of ketones and hyperglycemia on feline hemoglobin oxidation and D- and L-lactate production.
Kidney Diseases
Glycative stress and glyoxalase in kidney disease and aging.
RAGE and glyoxalase in kidney disease.
lactoylglutathione lyase deficiency
Dicarbonyl stress in clinical obesity.
Leukemia
Curcumin targets multiple enzymes involved in the ROS metabolic pathway to suppress tumor cell growth.
Studies on methylglyoxal. II. Changes of methylglyoxal level accompanying the changes of glyoxalase I and II activities in mice bearing L1210 leukemia and sarcoma 180.
Subcellular localization of DJ-1 in human HL-60 leukemia cells in response to diallyl disulfide treatment.
Leukemia, Erythroblastic, Acute
The familial Parkinson's disease gene DJ-1 (PARK7) is expressed in red cells and plays a role in protection against oxidative damage.
Lewy Body Disease
The Missing Heritability of Sporadic Frontotemporal Dementia: New Insights from Rare Variants in Neurodegenerative Candidate Genes.
Liver Cirrhosis, Biliary
Emerging views of mitophagy in immunity and autoimmune diseases.
Lung Injury
Elevation of Serum PARK7 and IL-8 Levels Is Associated With Acute Lung Injury in Patients With Severe Sepsis/Septic Shock.
Lung Neoplasms
DJ-1 as a potential biomarker for the early diagnosis in lung cancer patients.
Selective activation of apoptosis program by S-p-bromobenzylglutathione cyclopentyl diester in glyoxalase I-overexpressing human lung cancer cells.
Lupus Erythematosus, Systemic
Emerging views of mitophagy in immunity and autoimmune diseases.
Lymphoma
Glyoxalase activity in human erythrocytes and mouse lymphoma, liver and brain probed with hyperpolarized 13C-methylglyoxal.
Lymphoma, Non-Hodgkin
Further studies on liver glyoxalase activity in mice bearing lymphosarcoma.
Malaria
Glyoxalase pathway is required for normal liver-stage proliferation of Plasmodium berghei.
The glyoxalase system of malaria parasites-Implications for cell biology and general glyoxalase research.
Malnutrition
DJ-1 protects against undernutrition-induced atrophy through inhibition of the MAPK-ubiquitin ligase pathway in myoblasts.
Melanoma
Emerging views of mitophagy in immunity and autoimmune diseases.
The Effect of Bornyl cis-4-Hydroxycinnamate on Melanoma Cell Apoptosis Is Associated with Mitochondrial Dysfunction and Endoplasmic Reticulum Stress.
Upregulation of DJ-1 expression in melanoma regulates PTEN/AKT pathway for cell survival and migration.
[Activity of glyoxalase and glyoxalase II under the effect of toxohormone from melanoma]
Memory Disorders
Simulated vehicle exhaust exposure induces sex-dependent behavioral deficits in rats.
Mesothelioma
Computational genomic analysis of PARK7 interactome reveals high BBS1 gene expression as a prognostic factor favoring survival in malignant pleural mesothelioma.
Mesothelioma, Malignant
Computational genomic analysis of PARK7 interactome reveals high BBS1 gene expression as a prognostic factor favoring survival in malignant pleural mesothelioma.
Movement Disorders
Impaired D2 receptor-dependent dopaminergic transmission in prefrontal cortex of awake mouse model of Parkinson's disease.
Multiple Sclerosis
Novel candidate genes of the PARK7 interactome as mediators of apoptosis and acetylation in multiple sclerosis: An in silico analysis.
Muscular Dystrophies
Glyoxalase enzyme system in human muscular dystrophy.
Neoplasm Metastasis
Increased expression of macrophage migration inhibitory factor and DJ-1 contribute to cell invasion and metastasis of nasopharyngeal carcinoma.
Inhibition of tumour cell growth by carnosine: some possible mechanisms.
MiR-216b inhibits gastric cancer proliferation and migration by targeting PARK7.
Novel Insights into PARK7 (DJ-1), a Potential Anti-Cancer Therapeutic Target, and Implications for Cancer Progression.
Neoplasms
A possible regulatory role of 17beta-estradiol and tamoxifen on glyoxalase I and glyoxalase II genes expression in MCF7 and BT20 human breast cancer cells.
Advances in glyoxalase research. Glyoxalase expression in malignancy, anti-proliferative effects of methylglyoxal, glyoxalase I inhibitor diesters and S-D-lactoylglutathione, and methylglyoxal-modified protein binding and endocytosis by the advanced glycation endproduct receptor.
Aerobic and strength training induce changes in oxidative stress parameters and elicit modifications of various cellular components in skeletal muscle of aged rats.
Alteration of Glyoxalases Genes Expression in Response to Testosterone in LNCaP and PC3 Human Prostate Cancer Cells.
Analysis of the Antiproliferative Effect of Ankaferd Hemostat on Caco-2 Colon Cancer Cells via LC/MS Shotgun Proteomics Approach.
Bidirectional Relation Between Parkinson's Disease and Glioblastoma Multiforme.
Cancer Stem Cell Properties as Factors Predictive of Chemoresistance in Neoadjuvantly-treated Patients with Ovarian Cancer.
Clinical significance of DJ-1 as a secretory molecule: retrospective study of DJ-1 expression at mRNA and protein levels in ductal carcinoma of the breast.
Comparative Secretome Analyses Using a Hollow Fiber Culture System with Label-free Quantitative Proteomics Indicates the Influence of PARK7 on Cell Proliferation and Migration/Invasion in Lung Adenocarcinoma.
Computational genomic analysis of PARK7 interactome reveals high BBS1 gene expression as a prognostic factor favoring survival in malignant pleural mesothelioma.
Depletion of brain perivascular macrophages regulates acute restraint stress-induced neuroinflammation and oxidative/nitrosative stress in rat frontal cortex.
Detection of cathepsin B up-regulation in neoplastic thyroid tissues by proteomic analysis.
Discovery of a nanomolar inhibitor of the human glyoxalase-I enzyme using structure-based poly-pharmacophore modelling and molecular docking.
DJ-1 promotes survival of human colon cancer cells under hypoxia by modulating HIF-1? expression through the PI3K-AKT pathway.
DJ-1 protein expression as a predictor of pathological complete remission after neoadjuvant chemotherapy in breast cancer patients.
Effect of DJ-1 overexpression on the proliferation, apoptosis, invasion and migration of laryngeal squamous cell carcinoma SNU-46 cells through PI3K/AKT/mTOR.
Effect of piceatannol-rich passion fruit seed extract on human glyoxalase I-mediated cancer cell growth.
Ellagic acid: A potent glyoxalase-I inhibitor with a unique scaffold.
Emerging views of mitophagy in immunity and autoimmune diseases.
Exploring glyoxalase 1 expression in prostate cancer tissues: Targeting the enzyme by ethyl pyruvate defangs some malignancy-associated properties.
Expression of DJ-1 in Cancer Cells: Its Correlation with Clinical Significance.
Expression of glyoxalase I and II in normal and breast cancer tissues.
Genomic sequence of human glyoxalase-I: analysis of promoter activity and its regulation.
Glyoxalase 1, regulated by LncRNA MALAT1, promotes malignant development of esophageal squamous cell carcinoma.
Glyoxalase 1-419C>A Variant Is Associated with Oxidative Stress: Implications in Prostate Cancer Progression.
Glyoxalase activities in human tumour cell lines in vitro.
Glyoxalase activities in tumor and non-tumor human urogenital tissues.
Glyoxalase activity in human tumour cell lines in vitro.
Glyoxalase in tumourigenesis and multidrug resistance.
Glyoxalase System in the Progression of Skin Aging and Skin Malignancies.
High expression of DJ-1 promotes growth and invasion via the PTEN-AKT pathway and predicts a poor prognosis in colorectal cancer.
High levels of DJ-1 protein and isoelectric point 6.3 isoform in sera of breast cancer patients.
High levels of DJ-1 protein in nipple fluid of patients with breast cancer.
Hormetic potential of methylglyoxal, a side-product of glycolysis, in switching tumours from growth to death.
Imidazopurinones are markers of physiological genomic damage linked to DNA instability and glyoxalase 1-associated tumour multidrug resistance.
Immunomodulatory role of Parkinson's disease 7 in inflammatory bowel disease.
Increased expression of macrophage migration inhibitory factor and DJ-1 contribute to cell invasion and metastasis of nasopharyngeal carcinoma.
Intraperitoneal nanotherapy for metastatic ovarian cancer based on siRNA-mediated suppression of DJ-1 protein combined with a low dose of cisplatin.
Mechanistic Nanotherapeutic Approach Based on siRNA-Mediated DJ-1 Protein Suppression for Platinum-Resistant Ovarian Cancer.
Methylglyoxal production in human blood.
MicroRNA-544 inhibits glioma proliferation, invasion and migration but induces cell apoptosis by targeting PARK7.
Multiple roles of glyoxalase 1-mediated suppression of methylglyoxal glycation in cancer biology-Involvement in tumour suppression, tumour growth, multidrug resistance and target for chemotherapy.
Novel Insights into PARK7 (DJ-1), a Potential Anti-Cancer Therapeutic Target, and Implications for Cancer Progression.
NRG-1 Stimulates Serum DJ-1 Increase in Breast Cancers.
Overexpression of glyoxalase system enzymes in human kidney tumor.
PARK7 maintains the stemness of glioblastoma stem cells by stabilizing epidermal growth factor receptor variant III.
Potential contribution of oxidative stress and inflammation to anxiety and hypertension.
Protein arginine deiminase 4 antagonizes methylglyoxal-induced histone glycation.
Proteomics-Based Safety Evaluation of Multi-Walled Carbon Nanotubes.
Role of DJ-1 in Immune and Inflammatory Diseases.
ROS-induced nanotherapeutic approach for ovarian cancer treatment based on the combinatorial effect of photodynamic therapy and DJ-1 gene suppression.
Searches for clinically exploitable biochemical differences between normal and cancer cells: glyoxalase system in malignancy and its relation to cellular proliferation.
Status of the Parkinson's disease gene family expression in non-small-cell lung cancer.
Targeting the glyoxalase pathway enhances TRAIL efficacy in cancer cells by down-regulating the expression of anti-apoptotic molecules.
The role of methylglyoxal and the glyoxalase system in diabetes and other age-related diseases.
Up-regulated expression of the MAT-8 gene in prostate cancer and its siRNA-mediated inhibition of expression induces a decrease in proliferation of human prostate carcinoma cells.
Upregulation of DJ-1 expression in melanoma regulates PTEN/AKT pathway for cell survival and migration.
Yeast DJ-1 superfamily members are required for diauxic-shift reprogramming and cell survival in stationary phase.
[Role of methyl glyoxal and glyoxalase in diabetes and tumor growth]
[The expression of DJ-1 gene in human hepatocellular carcinoma and its relationship with tumor invasion and metastasis.]
Nephrotic Syndrome
HLA extended haplotypes in steroid-sensitive nephrotic syndrome of childhood.
Nervous System Diseases
Phenotyping of an in vitro model of ischemic penumbra by iTRAQ-based shotgun quantitative proteomics.
Neuroblastoma
6-Hydroxydopamine induces secretion of PARK7/DJ-1 via autophagy-based unconventional secretory pathway.
Anthraquinone from Edible Fungi Pleurotus ostreatus Protects Human SH-SY5Y Neuroblastoma Cells Against 6-Hydroxydopamine-Induced Cell Death-Preclinical Validation of Gene Knockout Possibilities of PARK7, PINK1, and SNCA1 Using CRISPR SpCas9.
Free radicals impair the anti-oxidative stress activity of DJ-1 through the formation of SDS-resistant dimer.
Hinokitiol Offers Neuroprotection Against 6-OHDA-Induced Toxicity in SH-SY5Y Neuroblastoma Cells by Downregulating mRNA Expression of MAO/?-Synuclein/LRRK2/PARK7/PINK1/PTEN Genes.
Mitochondrial localization of the Parkinson's disease related protein DJ-1: implications for pathogenesis.
Protective effects of DJ-1 medicated Akt phosphorylation on mitochondrial function are promoted by Da-Bu-Yin-Wan in 1-methyl-4-phenylpyridinium-treated human neuroblastoma SH-SY5Y cells.
Proteomics as a tool to investigate cell models for dopamine toxicity.
Neurodegenerative Diseases
An in silico analysis of deleterious single nucleotide polymorphisms and molecular dynamics simulation of disease linked mutations in genes responsible for neurodegenerative disorder.
DJ-1 can form ?-sheet structured aggregates that co-localize with pathological amyloid deposits.
DJ-1 colocalizes with tau inclusions: a link between parkinsonism and dementia.
DJ-1 is present in a large molecular complex in human brain tissue and interacts with alpha-synuclein.
Neuroprotection through flavonoid: Enhancement of the glyoxalase pathway.
Novel Insights into PARK7 (DJ-1), a Potential Anti-Cancer Therapeutic Target, and Implications for Cancer Progression.
Role of DJ-1 in Immune and Inflammatory Diseases.
The emerging epigenetics of PARK7 and its implication in neurodegenerative disease.
Yeast DJ-1 superfamily members are required for diauxic-shift reprogramming and cell survival in stationary phase.
Neuroinflammatory Diseases
Genetic Defects and Pro-inflammatory Cytokines in Parkinson's Disease.
Obesity
Dicarbonyl stress in clinical obesity.
Glyoxalase in diabetes, obesity and related disorders.
Oligodendroglioma
Network-based analysis of oligodendrogliomas predicts novel cancer gene candidates within the region of the 1p/19q co-deletion.
Opisthorchiasis
Carbonyl stress phenomena during chronic infection with Opisthorchis felineus.
Ovarian Neoplasms
Intraperitoneal nanotherapy for metastatic ovarian cancer based on siRNA-mediated suppression of DJ-1 protein combined with a low dose of cisplatin.
Mechanistic Nanotherapeutic Approach Based on siRNA-Mediated DJ-1 Protein Suppression for Platinum-Resistant Ovarian Cancer.
ROS-induced nanotherapeutic approach for ovarian cancer treatment based on the combinatorial effect of photodynamic therapy and DJ-1 gene suppression.
Paramyxoviridae Infections
Emerging views of mitophagy in immunity and autoimmune diseases.
Parkinson Disease
6-Hydroxydopamine induces secretion of PARK7/DJ-1 via autophagy-based unconventional secretory pathway.
Aggresome-forming TTRAP mediates pro-apoptotic properties of Parkinson's disease-associated DJ-1 missense mutations.
Aging and disease-relevant gene products in the neuronal transcriptome of the great pond snail (Lymnaea stagnalis): a potential model of aging, age-related memory loss, and neurodegenerative diseases.
An in silico analysis of deleterious single nucleotide polymorphisms and molecular dynamics simulation of disease linked mutations in genes responsible for neurodegenerative disorder.
Backbone resonance assignments of the Escherichia coli 62 kDa protein, Hsp31.
BAG1 restores formation of functional DJ-1 L166P dimers and DJ-1 chaperone activity.
Bis-isatin derivatives: design, synthesis, and biological activity evaluation as potent dimeric DJ-1 inhibitors.
Comparative analysis of Parkinson's disease-associated genes in mice reveals altered survival and bioenergetics of Parkin-deficient dopamine neurons.
Diagnosis of Parkinson's disease and the level of oxidized DJ-1 protein.
Dissembled DJ-1 high molecular weight complex in cortex mitochondria from Parkinson's disease patients.
Distribution of DJ-1, Parkinson's disease-related protein PARK7, and its alteration in 6-hydroxydopamine-treated hemiparkinsonian rat brain.
DJ-1 activates SIRT1 through its direct binding to SIRT1.
DJ-1 as a Biomarker of Parkinson's Disease.
DJ-1 binds to mitochondrial complex I and maintains its activity.
DJ-1 forms complexes with mutant SOD1 and ameliorates its toxicity.
DJ-1 is a redox sensitive adapter protein for high molecular weight complexes involved in regulation of catecholamine homeostasis.
DJ-1 maintains energy and glucose homeostasis by regulating the function of brown adipose tissue.
DJ-1 Mutations are Rare in a Swedish Parkinson Cohort.
DJ-1 promotes development of DEN-induced hepatocellular carcinoma and proliferation of liver cancer cells.
DJ-1 protects against neurodegeneration caused by focal cerebral ischemia and reperfusion in rats.
DJ-1 Protects Pancreatic Beta Cells from Cytokine- and Streptozotocin-Mediated Cell Death.
DJ-1 Protein and Its Role in the Development of Parkinson's Disease: Studies on Experimental Models.
DJ-1/PARK7: A New Therapeutic Target for Neurodegenerative Disorders.
Dysregulation in the Brain Protein Profile of Zebrafish Lacking the Parkinson's Disease-Related Protein DJ-1.
Epigenetic regulation of apoptosis via the PARK7 interactome in peripheral blood mononuclear cells donated by tuberculosis patients vs. healthy controls and the response to treatment: A systems biology approach.
Establishment of specific antibodies that recognize C106-oxidized DJ-1.
Expression of DJ-1 in Neurodegenerative Disorders.
Expression of the DJ-1 protein in the serum of Chinese patients with Parkinson's disease.
Expression of the Parkinson's disease protein DJ-1 during the differentiation of neural stem cells.
Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update.
Generation of an induced pluripotent stem cell line, FJMUUHi001-A, from a hereditary Parkinson's disease patient with homozygous mutation of c.189dupA in PARK7.
Generation of iPSC line from a Parkinson patient with PARK7 mutation and CRISPR-edited Gibco human episomal iPSC line to mimic PARK7 mutation.
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.
High levels of DJ-1 protein and isoelectric point 6.3 isoform in sera of breast cancer patients.
Immunomodulatory role of Parkinson's disease 7 in inflammatory bowel disease.
Impaired D2 receptor-dependent dopaminergic transmission in prefrontal cortex of awake mouse model of Parkinson's disease.
Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients.
Inhibitory effect of tartrate against phosphate-induced DJ-1 aggregation.
Kaempferol derivatives prevent oxidative stress-induced cell death in a DJ-1-dependent manner.
Lack of Association Between DJ-1 Gene Promoter Polymorphism and the Risk of Parkinson's Disease.
Loss of park7 activity has differential effects on expression of iron responsive element (IRE) gene sets in the brain transcriptome in a zebrafish model of Parkinson's disease.
Mutations in Parkinson's Disease Associated Protein DJ-1 Alter the Energetics of DJ-1 Dimerization.
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.
Novel human pathological mutations. Gene symbol: PARK7. Disease: Parkinson disease.
Novel Insights into PARK7 (DJ-1), a Potential Anti-Cancer Therapeutic Target, and Implications for Cancer Progression.
Novel Redox-Dependent Esterase Activity (EC 3.1.1.2) for DJ-1: Implications for Parkinson's Disease.
On the oligomeric state of DJ-1 protein and its mutants associated with Parkinson Disease. A combined computational and in vitro study.
Oxidant stress evoked by pacemaking in dopaminergic neurons is attenuated by DJ-1.
Oxidative Neurodegeneration Is Prevented by UCP0045037, an Allosteric Modulator for the Reduced Form of DJ-1, a Wild-Type of Familial Parkinson's Disease-Linked PARK7.
Oxidizable residues mediating protein stability and cytoprotective interaction of DJ-1 with apoptosis signal-regulating kinase 1.
Oxidized DJ-1 as a possible biomarker of Parkinson's disease.
PARK2 and PARK7 Gene Polymorphisms as Risk Factors Associated with Serum Element Concentrations and Clinical Symptoms of Parkinson's Disease.
PARK7 DJ-1 protects against degeneration of nigral dopaminergic neurons in Parkinson's disease rat model.
Pathological properties of the Parkinson's disease-associated protein DJ-1 in alpha-synucleinopathies and tauopathies: relevance for multiple system atrophy and Pick's disease.
Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases.
Phenotyping of an in vitro model of ischemic penumbra by iTRAQ-based shotgun quantitative proteomics.
Phenylbutyrate upregulates DJ-1 and protects neurons in cell culture and in animal models of Parkinson's disease.
Porcine DJ-1: cloning of PARK7 cDNA, sequence comparison, expression analysis and chromosomal localization.
Preparation and application of monoclonal antibodies against oxidized DJ-1. Significant elevation of oxidized DJ-1 in erythrocytes of early-stage Parkinson disease patients.
Products of the Parkinson's disease-related glyoxalase DJ-1, D-lactate and glycolate, support mitochondrial membrane potential and neuronal survival.
Protection against dopaminergic neurodegeneration in Parkinson's disease-model animals by a modulator of the oxidized form of DJ-1, a wild-type of familial Parkinson's disease-linked PARK7.
Protection against oxidative stress-induced neurodegeneration by a modulator for DJ-1, the wild-type of familial Parkinson's disease-linked PARK7.
Proteomics-Based Safety Evaluation of Multi-Walled Carbon Nanotubes.
Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population.
Role of DJ-1 in the mechanism of pathogenesis of Parkinson's disease.
Secretion of DJ-1 into the serum of patients with Parkinson's disease.
Selective enrichment of DJ-1 protein in primate striatal neuronal processes: implications for Parkinson's disease.
Specific cleavage of DJ-1 under an oxidative condition.
Structural determinants of the C-terminal helix-kink-helix motif essential for protein stability and survival promoting activity of DJ-1.
Systematic Review and UK-Based Study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.
The deglycase activity of DJ-1 mitigates ?-synuclein glycation and aggregation in dopaminergic cells: Role of oxidative stress mediated downregulation of DJ-1 in Parkinson's disease.
The effects of variants in the PARK2 (parkin), PINK1, and PARK7 (DJ-1) genes along with evidence for their pathogenicity.
The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease.
The Missing Heritability of Sporadic Frontotemporal Dementia: New Insights from Rare Variants in Neurodegenerative Candidate Genes.
The Multifaceted Roles of DJ-1 as an Antioxidant.
Transcriptional activation of low-density lipoprotein receptor gene by DJ-1 and effect of DJ-1 on cholesterol homeostasis.
Unexpected mitochondrial matrix localization of Parkinson's disease-related DJ-1 mutants but not wild-type DJ-1.
Unveiling the Role of DJ-1 Protein in Vesicular Storage and Release of Catecholamine with Nano/Micro-Tip Electrodes.
Upregulation of DJ-1 expression in melanoma regulates PTEN/AKT pathway for cell survival and migration.
Yeast DJ-1 superfamily members are required for diauxic-shift reprogramming and cell survival in stationary phase.
Zebrafish DJ-1 is evolutionarily conserved and expressed in dopaminergic neurons.
[Analysis of a patient with early-onset Parkinson's disease and PARK7 gene variation].
[Function of DJ-1 in mitochondria].
Parkinsonian Disorders
6-Hydroxydopamine induces secretion of PARK7/DJ-1 via autophagy-based unconventional secretory pathway.
A Novel Tyrosine Hydroxylase Variant in a Group of Chinese Patients with Dopa-Responsive Dystonia.
Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7.
Brachydactyly and short stature in a kindred with early-onset parkinsonism.
Diallyl disulfide effect on the invasion and migration ability of HL-60 cells with a high expression of DJ-1 in the nucleus through the suppression of the Src signaling pathway.
DJ-1 is present in a large molecular complex in human brain tissue and interacts with alpha-synuclein.
DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism.
Elevated levels of 8-OHdG and PARK7/DJ-1 in peri-implantitis mucosa.
Emerging views of mitophagy in immunity and autoimmune diseases.
Generation of an induced pluripotent stem cell line (GIBHi004-A) from a Parkinson's disease patient with mutant DJ-1/PARK7 (p.L10P).
Generation of induced pluripotent stem cell line (ZZUi007-A) from a 52-year-old patient with a novel CHCHD2 gene mutation in Parkinson's disease.
L10p and P158DEL DJ-1 mutations cause protein instability, aggregation, and dimerization impairments.
Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson's disease.
Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset.
Molecular imaging in hereditary forms of parkinsonism.
Mutational analysis of DJ-1 in Drosophila implicates functional inactivation by oxidative damage and aging.
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.
Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36.
Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism.
Subcellular localization of DJ-1 in human HL-60 leukemia cells in response to diallyl disulfide treatment.
The role of DJ-1 in the pathogenesis of Parkinson's disease.
Peri-Implantitis
Elevated levels of 8-OHdG and PARK7/DJ-1 in peri-implantitis mucosa.
Peripheral Nervous System Diseases
Protection from diabetes-induced peripheral sensory neuropathy - A role for elevated glyoxalase I?
Pre-Eclampsia
Evidence for increased methylglyoxal in the vasculature of women with preeclampsia: role in upregulation of LOX-1 and arginase.
Expression and significance of Parkinson disease protein 7 in placental, serum and umbilical cord blood in preeclampsia.
Expression of DJ-1 proteins in placentas from women with severe preeclampsia.
Prostatic Neoplasms
3-Bromopyruvate induces rapid human prostate cancer cell death by affecting cell energy metabolism, GSH pool and the glyoxalase system.
Exosomal proteins as prostate cancer biomarkers in urine: From mass spectrometry discovery to immunoassay-based validation.
Glyoxalase 1-419C>A Variant Is Associated with Oxidative Stress: Implications in Prostate Cancer Progression.
[Study of Dj-1 protein in tissue specimens, cultured cells and serum of prostate cancer patients].
Protein Deficiency
Unveiling the Role of DJ-1 Protein in Vesicular Storage and Release of Catecholamine with Nano/Micro-Tip Electrodes.
protein deglycase deficiency
PARK7 Protects Against Chronic Kidney Injury and Renal Fibrosis by Inducing SOD2 to Reduce Oxidative Stress.
PARK7 protein translocating into spermatozoa mitochondria in Chinese asthenozoospermia.
Unveiling the Role of DJ-1 Protein in Vesicular Storage and Release of Catecholamine with Nano/Micro-Tip Electrodes.
Proteinuria
Effect of tacrolimus on the expression of Park7 in glomerular podocytes injured by puromycin aminonucleoside.
Thiamine pyrophosphate improved vascular complications of diabetes in rats with type 2 diabetes by reducing glycation, oxidative stress, and inflammation markers.
Psoriasis
Glyoxalase System in the Progression of Skin Aging and Skin Malignancies.
Pulmonary Disease, Chronic Obstructive
AITC induces MRP1 expression by protecting against CS/CSE-mediated DJ-1 protein degradation via activation of the DJ-1/Nrf2 axis.
Renal Insufficiency, Chronic
Methylglyoxal stress, the glyoxalase system, and diabetic chronic kidney disease.
Reperfusion Injury
Neuroprotective effect of resveratrol against brain ischemia reperfusion injury in rats entails reduction of DJ-1 protein expression and activation of PI3K/Akt/GSK3b survival pathway.
Sarcoma
Studies on methylglyoxal. II. Changes of methylglyoxal level accompanying the changes of glyoxalase I and II activities in mice bearing L1210 leukemia and sarcoma 180.
Sarcoma 180
Studies on methylglyoxal. II. Changes of methylglyoxal level accompanying the changes of glyoxalase I and II activities in mice bearing L1210 leukemia and sarcoma 180.
Schistosomiasis
Influence of the host related factors in the development of the hepatosplenic form of schistosomiasis mansoni.
Sepsis
Analysis of Spatiotemporal Urine Protein Dynamics to Identify New Biomarkers for Sepsis-Induced Acute Kidney Injury.
DJ-1/PARK7 Impairs Bacterial Clearance in Sepsis.
Elevation of Serum PARK7 and IL-8 Levels Is Associated With Acute Lung Injury in Patients With Severe Sepsis/Septic Shock.
Park7 interacts with p47(phox) to direct NADPH oxidase-dependent ROS production and protect against sepsis.
The Glyoxalase System and Methylglyoxal-Derived Carbonyl Stress in Sepsis: Glycotoxic Aspects of Sepsis Pathophysiology.
Shock, Septic
The Glyoxalase System and Methylglyoxal-Derived Carbonyl Stress in Sepsis: Glycotoxic Aspects of Sepsis Pathophysiology.
Silicosis
Genetic-biochemical criteria for individual sensitivity in development of occupational bronchopulmonary diseases.
[Genetic aspects of silicosis: polymorphic gene distribution frequency]
Skin Abnormalities
Glyoxalase System in the Progression of Skin Aging and Skin Malignancies.
Skin Neoplasms
Glyoxalase System in the Progression of Skin Aging and Skin Malignancies.
Sleep Apnea, Obstructive
The DJ-1 protein as a candidate biomarker in obstructive sleep apnea syndrome.
Spinocerebellar Ataxias
Altered expression of HSPA5, HSPA8 and PARK7 in spinocerebellar ataxia type 17 identified by 2-dimensional fluorescence difference in gel electrophoresis.
Spinocerebellar Degenerations
Hereditary ataxia and the sixth chromosome.
steroid 21-monooxygenase deficiency
Genetic mapping of the 21-hydroxylase-deficiency gene within the HLA linkage group.
Stomach Neoplasms
MiR-216b inhibits gastric cancer proliferation and migration by targeting PARK7.
Stroke
Comparative Examination of Temporal Glyoxalase 1 Variations Following Perforant Pathway Transection, Excitotoxicity, and Controlled Cortical Impact Injury.
Comparison of plasma PARK7 and NDKA diagnostic value in acute stroke.
PARK7 and nucleoside diphosphate kinase A as plasma markers for the early diagnosis of stroke.
Plasma PARK7 and NDKA in acute stroke: methodological issues regarding diagnostic value.
Role of PARK7 and NDKA in stroke management: a review of PARK7 and NDKA as stroke biomarkers.
Synucleinopathies
DJ-1 is present in a large molecular complex in human brain tissue and interacts with alpha-synuclein.
Tauopathies
DJ-1 colocalizes with tau inclusions: a link between parkinsonism and dementia.
DJ-1 is present in a large molecular complex in human brain tissue and interacts with alpha-synuclein.
Thrombosis
[The expression of DJ-1 gene in human hepatocellular carcinoma and its relationship with tumor invasion and metastasis.]
Tuberculosis
Epigenetic regulation of apoptosis via the PARK7 interactome in peripheral blood mononuclear cells donated by tuberculosis patients vs. healthy controls and the response to treatment: A systems biology approach.
The Mycobacterium tuberculosis complex-restricted gene cfp32 encodes an expressed protein that is detectable in tuberculosis patients and is positively correlated with pulmonary interleukin-10.
Urinary Bladder Neoplasms
The significance of calprotectin, CD147, APOA4 and DJ-1 in non-invasive detection of urinary bladder carcinoma.
Viruses Masquerading as Antibodies in Biosensors: The Development of the Virus BioResistor.
Urologic Diseases
The significance of calprotectin, CD147, APOA4 and DJ-1 in non-invasive detection of urinary bladder carcinoma.
Vascular Diseases
Reactive Metabolites and AGE/RAGE-Mediated Cellular Dysfunction Affect the Aging Process - A Mini-Review.
Vitiligo
Glyoxalase System in the Progression of Skin Aging and Skin Malignancies.
Xanthomatosis, Cerebrotendinous
Study of a family with Cerebrotendinous Xanthomatosis. No HLA linkage, but an informative recombination between HLA-B and Bf.