Progranulin deficiency leads to reduced glucocerebrosidase activity
Progranulin deficiency leads to reduced glucocerebrosidase activity
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Publisher
United States: Public Library of Science
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Language
English
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Publisher
United States: Public Library of Science
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Contents
Mutation in the GRN gene, encoding the progranulin (PGRN) protein, shows a dose-dependent disease correlation, wherein haploinsufficiency results in frontotemporal lobar degeneration (FTLD) and complete loss results in neuronal ceroid lipofuscinosis (NCL). Although the exact function of PGRN is unknown, it has been increasingly implicated in lysoso...
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Full title
Progranulin deficiency leads to reduced glucocerebrosidase activity
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TN_cdi_plos_journals_2256213264
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2256213264
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0212382
