Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis

Haploinsufficiency of GRN causes frontotemporal dementia (FTD). The GRN locus produces progranulin (PGRN), which is cleaved to lysosomal granulin polypeptides. The function of lysosomal granulins and why their absence causes neurodegeneration are unclear. Here we discover that PGRN-deficient human c...

Descripción completa

Detalles Bibliográficos
Autores principales: Boland, Sebastian, Swarup, Sharan, Ambaw, Yohannes A., Malia, Pedro C., Richards, Ruth C., Fischer, Alexander W., Singh, Shubham, Aggarwal, Geetika, Spina, Salvatore, Nana, Alissa L., Grinberg, Lea T., Seeley, William W., Surma, Michal A., Klose, Christian, Paulo, Joao A., Nguyen, Andrew D., Harper, J. Wade, Walther, Tobias C., Farese, Robert V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9546883/
https://www.ncbi.nlm.nih.gov/pubmed/36207292
http://dx.doi.org/10.1038/s41467-022-33500-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9546883/
https://www.ncbi.nlm.nih.gov/pubmed/36207292
http://dx.doi.org/10.1038/s41467-022-33500-9

Ejemplares similares