Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III
about
The DMAP interaction domain of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is a substrate recognition moduleAnalysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognitionMucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB)Mucolipidosis type III α/β: the first characterization of this rare disease by autopsy.Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations.Enzyme-specific differences in mannose phosphorylation between GlcNAc-1-phosphotransferase αβ and γ subunit deficient zebrafish support cathepsin proteases as early mediators of mucolipidosis pathology.Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient.Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report
P2860
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P2860
Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III
description
2009 nî lūn-bûn
@nan
2009 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Molecular analysis of cell lin ...... dosis II and mucolipidosis III
@ast
Molecular analysis of cell lin ...... dosis II and mucolipidosis III
@en
Molecular analysis of cell lin ...... dosis II and mucolipidosis III
@en-gb
Molecular analysis of cell lin ...... dosis II and mucolipidosis III
@nl
type
label
Molecular analysis of cell lin ...... dosis II and mucolipidosis III
@ast
Molecular analysis of cell lin ...... dosis II and mucolipidosis III
@en
Molecular analysis of cell lin ...... dosis II and mucolipidosis III
@en-gb
Molecular analysis of cell lin ...... dosis II and mucolipidosis III
@nl
prefLabel
Molecular analysis of cell lin ...... dosis II and mucolipidosis III
@ast
Molecular analysis of cell lin ...... dosis II and mucolipidosis III
@en
Molecular analysis of cell lin ...... dosis II and mucolipidosis III
@en-gb
Molecular analysis of cell lin ...... dosis II and mucolipidosis III
@nl
P3181
P356
P1476
Molecular analysis of cell lin ...... dosis II and mucolipidosis III
@en
P2093
Maryam Zarghooni
Sarma S R Dittakavi
P2860
P304
P3181
P356
10.1002/AJMG.A.33134
P407
P577
2009-12-01T00:00:00Z