Progranulin deficiency leads to reduced glucocerebrosidase activity

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 unkn...

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Udgivet i:PLoS One
Main Authors: Zhou, Xiaolai, Paushter, Daniel H., Pagan, Mitchell D., Kim, Dongsung, Nunez Santos, Mariela, Lieberman, Raquel L., Overkleeft, Herman S., Sun, Ying, Smolka, Marcus B., Hu, Fenghua
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2019
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6619604/
https://ncbi.nlm.nih.gov/pubmed/31291241
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0212382
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