Progranulin deficiency leads to reduced glucocerebrosidase activity.

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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Bibliographic Details
Main Authors: Xiaolai Zhou, Daniel H Paushter, Mitchell D Pagan, Dongsung Kim, Mariela Nunez Santos, Raquel L Lieberman, Herman S Overkleeft, Ying Sun, Marcus B Smolka, Fenghua Hu
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2019-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0212382

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https://doi.org/10.1371/journal.pone.0212382

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