Substrate Compositional Variation with Tissue/Region and Gba1 Mutations in Mouse Models–Implications...
Substrate Compositional Variation with Tissue/Region and Gba1 Mutations in Mouse Models–Implications for Gaucher Disease
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United States: Public Library of Science
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Language
English
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United States: Public Library of Science
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Contents
Gaucher disease results from GBA1 mutations that lead to defective acid β-glucosidase (GCase) mediated cleavage of glucosylceramide (GC) and glucosylsphingosine as well as heterogeneous manifestations in the viscera and CNS. The mutation, tissue, and age-dependent accumulations of different GC species were characterized in mice with Gba1 missense m...
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Substrate Compositional Variation with Tissue/Region and Gba1 Mutations in Mouse Models–Implications for Gaucher Disease
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TN_cdi_plos_journals_1330881481
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1330881481
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0057560
