Accumulation of multiple neurodegenerative disease-related proteins in familial frontotemporal lobar degeneration associated with granulin mutation

In 2006, mutations in the granulin gene were identified in patients with familial Frontotemporal Lobar Degeneration. Granulin transcript haploinsufficiency has been proposed as a disease mechanism that leads to the loss of functional progranulin protein. Granulin mutations were initially found in ta...

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Detalles Bibliográficos
Autores principales: Hosokawa, Masato, Kondo, Hiromi, Serrano, Geidy E., Beach, Thomas G., Robinson, Andrew C., Mann, David M., Akiyama, Haruhiko, Hasegawa, Masato, Arai, Tetsuaki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5431430/
https://www.ncbi.nlm.nih.gov/pubmed/28473694
http://dx.doi.org/10.1038/s41598-017-01587-6

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