Associated Papers
In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts.
Sperb-Ludwig F et al.
Genetics and Molecular Biology, 2023
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.
Di Lorenzo G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
34341521 (PubMed )
Supplement: 41436_2021_1285_MOESM1_ESM.pdf
Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma.
Westermann LM et al.
Disease Models & Mechanisms, 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
Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing.
Ludwig NF et al.
Molecular Genetics and Metabolism Reports, 2017
Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.
Velho RV et al.
Journal of Human Genetics, 2016
A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling.
Velho RV et al.
Molecular Genetics and Metabolism Reports, 2014
Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma.
Sperb-Ludwig F et al.
Genetics and Molecular Biology, 0
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