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...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:eNeuro
Päätekijät: Holler, Christopher J., Taylor, Georgia, Deng, Qiudong, Kukar, Thomas
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Society for Neuroscience 2017
Aiheet:
New Research
Linkit: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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