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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Bibliografiska uppgifter
I publikationen:PLoS One
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Public Library of Science 2019
Ämnen:
Research Article
Länkar: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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