Associated Papers
CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients.
Ammer LS et al.
Journal of Clinical Medicine, 2023
Structural insights into how GlcNAc-1-phosphotransferase directs lysosomal protein transport.
Du S et al.
The Journal of Biological Chemistry, 2022
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.
Pasumarthi D et al.
Journal of Human Genetics, 2020
Disease-causing missense mutations within the N-terminal transmembrane domain of GlcNAc-1-phosphotransferase impair endoplasmic reticulum translocation or Golgi retention.
Lee WS et al.
Human Mutation, 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
Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II.
Wang Y et al.
Acta Pharmacologica Sinica, 2019
GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.
Ludwig NF et al.
The International Journal of Biochemistry & Cell Biology, 2017
Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site.
Velho RV et al.
Human Molecular Genetics, 2015
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.
Willig LK et al.
The Lancet. Respiratory Medicine, 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.
Qian Y et al.
The Journal of Biological Chemistry, 2015
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Soden SE et al.
Science Translational Medicine, 2014
Mucolipidosis type III α/β: the first characterization of this rare disease by autopsy.
Kerr DA et al.
Archives of Pathology & Laboratory Medicine, 2011
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.
Cathey SS et al.
Journal of Medical Genetics, 2010
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