Associated Papers
Mucolipidoses Overview: Past, Present, and Future.
Khan SA et al.
International Journal of Molecular Sciences, 2020
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.
Velho RV et al.
Human Mutation, 2019
A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease).
Wang P et al.
Bmc Veterinary Research, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
Multiple Domains of GlcNAc-1-phosphotransferase Mediate Recognition of Lysosomal Enzymes.
van Meel E et al.
The Journal of Biological Chemistry, 2016
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.
Qian Y et al.
The Journal of Biological Chemistry, 2015
Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB).
De Pace R et al.
Human Mutation, 2014
Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.
Coutinho MF et al.
American Journal of Medical Genetics. Part A, 2012
Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III.
Zarghooni M et al.
American Journal of Medical Genetics. Part A, 2009
Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations.
Liu S et al.
Plos One, 0
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