Article

Progranulin deficiency leads to reduced glucocerebrosidase activity

2019-02-07

Abstract excerpt

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 lysosomal physiology. Here we report that PGRN interacts with the lysoso...

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Literature Corpus work: 9d66589e-4dd5-51b5-8aef-c5a855e3945f
DOI: 10.1101/540450

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