Condition: Pseudo-Hurler Polydystrophy


rs137852895 in GNPTAB gene and Pseudo-Hurler Polydystrophy PMID 25505245 2015 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.

PMID 16094673 2005 Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.

PMID 25788519 2015 Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site.

PMID 19634183 2009 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.

PMID 19938078 2009 Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III.

PMID 19197337 2009 Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.

PMID 19617216 2010 Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

PMID 16465621 2006 Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha beta -subunits precursor gene.

PMID 17034777 2007 DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: a chance of 1 in 7.6 trillion.

PMID 24045841 2014 A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.

PMID 16630736 2006 When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.

PMID 24550498 2014 Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ.

PMID 23566849 2013 Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene.

PMID 28918368 2017 GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.

PMID 24375680 2014 Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB).

PMID 21416587 2011 A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby.

PMID 16116615 2005 Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.

PMID 28095893 2017 Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.

PMID 27662472 2019 Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations.

PMID 23773965 2013 Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing.

PMID 19659762 2009 Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 23227064 2012 A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth.

PMID 24798265 2015 Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.

PMID 16630736 2006 The third ML III patient from France was compound heterozygous for a missense mutation [c.1196C>T] and the same deletion [c.3503_4delTC] [corrected] found homozygous in 11 ML II patients.

PMID 27710913 2016 Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta.

PMID 25107912 2014 A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology.

PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 25606425 2014 Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report.

PMID 20880125 2011 Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.

PMID 24045841 2014 Intermediate ML patients who share the c.10A>C/p.K4Q mutation in GNPTAB demonstrate a distinct, consistent phenotype similar to ML II in physical and radiographic features and to ML IIIα/β in psychomotor development and life expectancy.

PMID 23192343 2013 Transport of the GlcNAc-1-phosphotransferase α/β-subunit precursor protein to the Golgi apparatus requires a combinatorial sorting motif.

PMID 28396763 2017 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.

PMID 25473036 2014 Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

PMID 24060719 2014 Mucolipidosis II: first report from Saudi Arabia.

PMID 27180337 2016 A novel splice site mutation in the GNPTAB gene in an Iranian patient with mucolipidosis II α/β.

rs35333334 in GNPTAB;CHPT1 gene and Pseudo-Hurler Polydystrophy PMID 19634183 2009 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.

PMID 27662472 2019 Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations.

PMID 16630736 2006 When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.

PMID 16465621 2006 Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha beta -subunits precursor gene.

PMID 16200072 2005 Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.