Articles with "mutations gnptab" as a keyword



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Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta

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Published in 2019 at "Human Mutation"

DOI: 10.1002/humu.23928

Abstract: Mucolipidosis (ML) II and III alpha/beta are inherited lysosomal storage disorders caused by mutations in GNPTAB encoding the α/β‐precursor of GlcNAc‐1‐phosphotransferase. This enzyme catalyzes the initial step in the modification of more than 70 lysosomal… read more here.

Keywords: mutations gnptab; mucolipidosis iii; alpha beta; iii alpha ... See more keywords