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adenylate kinase deficiency
Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG.
Apraxias
A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering.
Bone Resorption
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.
Cardiomyopathies
A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy.
Congenital Abnormalities
MUCOLIPIDOSIS II INFANTS PRESENTING WITH SKELETAL DEFORMITIES MIMICKING RICKETS AND A NEW MUTATION IN GNPTAB GENE.
Dyslexia
Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population.
Hyperparathyroidism, Secondary
A neonate with mucolipidosis II and transient secondary hyperparathyroidism.
Infections
A genome-wide CRISPR screen identifies N-acetylglucosamine-1-phosphate transferase as a potential antiviral target for Ebola virus.
Lysosomal Storage Diseases
Dilated cardiomyopathy in mucolipidosis type 2.
Lysosomal Storage Diseases
Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype.
Lysosomal Storage Diseases
GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.
Lysosomal Storage Diseases
Mice lacking mannose 6-phosphate uncovering enzyme activity have a milder phenotype than mice deficient for N-acetylglucosamine-1-phosphotransferase activity.
Lysosomal Storage Diseases
Mice Lacking {alpha}/{beta} Subunits of GlcNAc-1-Phosphotransferase Exhibit Growth Retardation, Retinal Degeneration, and Secretory Cell Lesions.
Lysosomal Storage Diseases
Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene.
Lysosomal Storage Diseases
UDP-GlcNAc-1-Phosphotransferase Is a Clinically Important Regulator of Human and Mouse Hair Pigmentation.
Lysosomal Storage Diseases
Ultrastructural Analysis of Neuronal and Non-neuronal Lysosomal Storage in Mucolipidosis Type II Knock-in Mice.
Metabolic Diseases
Knockout of Lysosomal Enzyme-Targeting Gene Causes Abnormalities in Mouse Pup Isolation Calls.
Metabolic Diseases
[Clinical and genetic analysis of mucolipidosis in 3 pedigrees and literature review].
Mucolipidoses
A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby.
Mucolipidoses
A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling.
Mucolipidoses
A genome-wide CRISPR screen identifies N-acetylglucosamine-1-phosphate transferase as a potential antiviral target for Ebola virus.
Mucolipidoses
A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease).
Mucolipidoses
A novel intermediate mucolipidosis II/III?? caused by GNPTAB mutation in the cytosolic N-terminal domain.
Mucolipidoses
A novel single-chain antibody fragment for detection of mannose 6-phosphate-containing proteins: application in mucolipidosis type II patients and mice.
Mucolipidoses
A novel splice site mutation in the GNPTAB gene in an Iranian patient with mucolipidosis II ?/?.
Mucolipidoses
A role for inherited metabolic deficits in persistent developmental stuttering.
Mucolipidoses
A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy.
Mucolipidoses
AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II.
Mucolipidoses
Abnormal expressions of the subunits of the UDP-N-acetylglucosamine: lysosomal enzyme, N-acetylglucosamine-1-phosphotransferase, result in the formation of cytoplasmic vacuoles resembling those of the I-cells.
Mucolipidoses
Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient.
Mucolipidoses
An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II.
Mucolipidoses
Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site.
Mucolipidoses
Analysis of Mucolipidosis II/III GNPTAB Missense Mutations Identifies Domains of UDP-GlcNAc:lysosomal Enzyme GlcNAc-1-phosphotransferase Involved in Catalytic Function and Lysosomal Enzyme Recognition.
Mucolipidoses
Characterization of the mutant N-acetylglucosaminylphosphotransferase in I-cell disease and pseudo-Hurler polydystrophy: complementation analysis and kinetic studies.
Mucolipidoses
Clinical Characterization of Mucolipidoses II and III: A Multicenter Study.
Mucolipidoses
Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.
Mucolipidoses
Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity.
Mucolipidoses
Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta.
Mucolipidoses
Compensatory expression of human N-Acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma.
Mucolipidoses
Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma.
Mucolipidoses
Compound heterozygous GNPTAB mutations cause mucolipidosis II or III alpha/beta in two Chinese families.
Mucolipidoses
Demonstration of the heterozygous state for I-cell disease and pseudo-Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts.
Mucolipidoses
Development of an Antisense Oligonucleotide-Mediated Exon Skipping Therapeutic Strategy for Mucolipidosis II: Validation at RNA Level.
Mucolipidoses
Dilated cardiomyopathy in mucolipidosis type 2.
Mucolipidoses
Distinct Modes of Balancing Glomerular Cell Proteostasis in Mucolipidosis Type II and III Prevent Proteinuria.
Mucolipidoses
Elevated Bone Turnover in an Infantile Patient with Mucolipidosis II; No Association with Hyperparathyroidism.
Mucolipidoses
Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.
Mucolipidoses
Enzyme-specific differences in mannose phosphorylation between GlcNAc-1-phosphotransferase ?? and ? subunit deficient zebrafish support cathepsin proteases as early mediators of mucolipidosis pathology.
Mucolipidoses
Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype.
Mucolipidoses
Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity.
Mucolipidoses
Glycosylation- and phosphorylation-dependent intracellular transport of lysosomal hydrolases.
Mucolipidoses
GNPTAB c.2404C?>?T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report.
Mucolipidoses
GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.
Mucolipidoses
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.
Mucolipidoses
Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes.
Mucolipidoses
Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma.
Mucolipidoses
Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II.
Mucolipidoses
Identification of two novel variants in GNPTAB underlying mucolipidosis II in a Pakistani family.
Mucolipidoses
Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma.
Mucolipidoses
Knockout of Lysosomal Enzyme-Targeting Gene Causes Abnormalities in Mouse Pup Isolation Calls.
Mucolipidoses
Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics.
Mucolipidoses
Mannose-6-phosphate pathway: A review on its role in lysosomal function and dysfunction.
Mucolipidoses
Mice Lacking {alpha}/{beta} Subunits of GlcNAc-1-Phosphotransferase Exhibit Growth Retardation, Retinal Degeneration, and Secretory Cell Lesions.
Mucolipidoses
Mislocalization of phosphotransferase as a cause of mucolipidosis III ??.
Mucolipidoses
Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG.
Mucolipidoses
Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III.
Mucolipidoses
Molecular analysis of the GlcNac-1-phosphotransferase.
Mucolipidoses
Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.
Mucolipidoses
Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.
Mucolipidoses
Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene.
Mucolipidoses
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.
Mucolipidoses
MUCOLIPIDOSIS II INFANTS PRESENTING WITH SKELETAL DEFORMITIES MIMICKING RICKETS AND A NEW MUTATION IN GNPTAB GENE.
Mucolipidoses
Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.
Mucolipidoses
Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB).
Mucolipidoses
Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population.
Mucolipidoses
Mucolipidosis III GNPTG missense mutations cause misfolding of the ? subunit of GlcNAc-1-phosphotransferase.
Mucolipidoses
Mucolipidosis in a Chinese family with compound heterozygous mutations at the GNPTAB gene.
Mucolipidoses
Mucolipidosis type II ?/? with a homozygous missense mutation in the GNPTAB gene.
Mucolipidoses
Mucolipidosis Type II Affecting 1 Fetus and Placental Disk of a Dichorionic-Diamnionic Twin Gestation: A Case Report and Review of the Literature.
Mucolipidoses
Mucolipidosis type II in a domestic shorthair cat.
Mucolipidoses
Mucolipidosis Type II Secondary to GNPTAB Gene Deletion from India.
Mucolipidoses
Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes.
Mucolipidoses
Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations.
Mucolipidoses
Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother.
Mucolipidoses
Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease.
Mucolipidoses
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.
Mucolipidoses
Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report.
Mucolipidoses
Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant.
Mucolipidoses
Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene.
Mucolipidoses
Recycling of Golgi glycosyltransferases requires direct binding to coatomer.
Mucolipidoses
Site-1 protease and lysosomal homeostasis.
Mucolipidoses
Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta.
Mucolipidoses
The DMAP interaction domain of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is a substrate recognition module.
Mucolipidoses
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.
Mucolipidoses
Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.
Mucolipidoses
Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing.
Mucolipidoses
UDP-GlcNAc-1-Phosphotransferase Is a Clinically Important Regulator of Human and Mouse Hair Pigmentation.
Mucolipidoses
Ultrastructural Analysis of Neuronal and Non-neuronal Lysosomal Storage in Mucolipidosis Type II Knock-in Mice.
Mucolipidoses
Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities.
Mucolipidoses
[A novel compound heterozygous mutation of GNPTAB gene underlying a case with mucolipidosis type II ?/?].
Mucolipidoses
[PROVISIONAL] Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma.
Myopia
Novel Myopia Genes and Pathways Identified From Syndromic Forms of Myopia.
Pancreatitis
Dysregulation of mannose-6-phosphate-dependent cholesterol homeostasis in acinar cells mediates pancreatitis.
Retinal Degeneration
Mice Lacking {alpha}/{beta} Subunits of GlcNAc-1-Phosphotransferase Exhibit Growth Retardation, Retinal Degeneration, and Secretory Cell Lesions.
Retinitis Pigmentosa
Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities.
Rickets
MUCOLIPIDOSIS II INFANTS PRESENTING WITH SKELETAL DEFORMITIES MIMICKING RICKETS AND A NEW MUTATION IN GNPTAB GENE.
Stuttering
A Mutation Associated with Stuttering Alters Mouse Pup Ultrasonic Vocalizations.
Stuttering
A role for inherited metabolic deficits in persistent developmental stuttering.
Stuttering
A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering.
Stuttering
Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population.
Stuttering
Genetic approaches to understanding the causes of stuttering.
Stuttering
Genetic factors and therapy outcomes in persistent developmental stuttering.
Stuttering
Genetics of Speech and Language Disorders.
Stuttering
Human GNPTAB stuttering mutations engineered into mice cause vocalization deficits and astrocyte pathology in the corpus callosum.
Stuttering
Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes.
Stuttering
Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.
Stuttering
Neurofilament-lysosomal genetic intersections in the cortical network of stuttering.
Stuttering
Variants in GNPTAB, GNPTG and NAGPA genes are associated with stutterers.
udp-n-acetylglucosamine-lysosomal-enzyme n-acetylglucosaminephosphotransferase deficiency
Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells.
udp-n-acetylglucosamine-lysosomal-enzyme n-acetylglucosaminephosphotransferase deficiency
[PROVISIONAL] Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma.
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2.7.8.17 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase
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The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable). 
