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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Detalhes bibliográficos
Publicado no:eNeuro
Main Authors: Holler, Christopher J., Taylor, Georgia, Deng, Qiudong, Kukar, Thomas
Formato: Artigo
Idioma:Inglês
Publicado em: Society for Neuroscience 2017
Assuntos:
New Research
Acesso em linha: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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