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
Sign Up to like & getrecommendations! 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
Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing.
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DOI: 10.1089/gtmb.2018.0123
Abstract: BACKGROUND Mucolipidosis III gamma (MLIIIγ) is a rare autosomal recessive disorder characterized by radiographic evidence of mild-to-moderate dysostosis multiplex, progressive joint stiffness and pain, scoliosis, and normal to mildly impaired cognitive development. Cardiac valve involvement… read more here.
Keywords: iii gamma; mucolipidosis iii; pakistani family; family ... See more keywords
Does the clinical phenotype of mucolipidosis-III&ggr; differ from its &agr;&bgr; counterpart?: supporting facts in a cohort of 18 patients
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DOI: 10.1097/mcd.0000000000000249
Abstract: Mucolipidosis-III&ggr; (ML-III&ggr;) is a recessively inherited slowly progressive skeletal dysplasia caused by mutations in GNPTG. We report the genetic and clinical findings in the largest cohort with ML-III&ggr; so far: 18 affected individuals from 12… read more here.
Keywords: agr bgr; mucolipidosis iii; ggr; cohort ... See more keywords