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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Bibliografiset tiedot
Julkaisussa:Nat Commun
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2017
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5467170/
https://ncbi.nlm.nih.gov/pubmed/28585542
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms15558
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