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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Detalles Bibliográficos
Autores principales: Holler, Christopher J., Taylor, Georgia, Deng, Qiudong, Kukar, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Society for Neuroscience 2017
Materias:
New Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5562298/
https://www.ncbi.nlm.nih.gov/pubmed/28828399
http://dx.doi.org/10.1523/ENEURO.0100-17.2017

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5562298/
https://www.ncbi.nlm.nih.gov/pubmed/28828399
http://dx.doi.org/10.1523/ENEURO.0100-17.2017

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