Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations

Loss-of-function mutations in progranulin (GRN) are a major autosomal dominant cause of frontotemporal dementia. Most pathogenic GRN mutations result in progranulin haploinsufficiency, which is thought to cause frontotemporal dementia in GRN mutation carriers. Progranulin haploinsufficiency may driv...

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Detalles Bibliográficos
Autores principales: Arrant, Andrew E., Roth, Jonathan R., Boyle, Nicholas R., Kashyap, Shreya N., Hoffmann, Madelyn Q., Murchison, Charles F., Ramos, Eliana Marisa, Nana, Alissa L., Spina, Salvatore, Grinberg, Lea T., Miller, Bruce L., Seeley, William W., Roberson, Erik D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6929503/
https://www.ncbi.nlm.nih.gov/pubmed/31870439
http://dx.doi.org/10.1186/s40478-019-0872-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6929503/
https://www.ncbi.nlm.nih.gov/pubmed/31870439
http://dx.doi.org/10.1186/s40478-019-0872-6

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