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Progranulin deficiency leads to reduced glucocerebrosidase activity

10 Jul 2019

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...

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Amyotrophic Lateral Sclerosis Research
Lysosomal Storage Disorders Research
Parkinson's Disease Mechanisms and Treatments

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 31291241
DOI: 10.1371/journal.pone.0212382

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Progranulin deficiency leads to reduced glucocerebrosidase activityPMID 31291241Read ↗

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