Intracellular Proteolysis of Progranulin Generates Stable, Lysosomal Granulins that Are Haploinsufficient in Patients with Frontotemporal Dementia Caused by GRN Mutations

Homozygous or heterozygous mutations in the GRN gene, encoding progranulin (PGRN), cause neuronal ceroid lipofuscinosis (NCL) or frontotemporal dementia (FTD), respectively. NCL and FTD are characterized by lysosome dysfunction and neurodegeneration, indicating PGRN is important for lysosome homeost...

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Foilsithe in:eNeuro
Main Authors: Holler, Christopher J., Taylor, Georgia, Deng, Qiudong, Kukar, Thomas
Formáid: Artigo
Teanga:Inglês
Foilsithe: Society for Neuroscience 2017
Ábhair:
New Research
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5562298/
https://ncbi.nlm.nih.gov/pubmed/28828399
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/ENEURO.0100-17.2017
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