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Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity

Although multiple CHCHD10 mutations are associated with the spectrum of familial and sporadic frontotemporal dementia–amyotrophic lateral sclerosis (FTD–ALS) diseases, neither the normal function of endogenous CHCHD10 nor its role in the pathological milieu (that is, TDP-43 pathology) of FTD/ALS hav...

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Detalles Bibliográficos
Autores principales: Woo, Jung-A. A., Liu, Tian, Trotter, Courtney, Fang, Cenxiao C., De Narvaez, Emillio, LePochat, Patrick, Maslar, Drew, Bukhari, Anusha, Zhao, Xingyu, Deonarine, Andrew, Westerheide, Sandy D., Kang, David E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5467170/
https://www.ncbi.nlm.nih.gov/pubmed/28585542
http://dx.doi.org/10.1038/ncomms15558