A novel CHCHD10 mutation implicates a Mia40‐dependent mitochondrial import deficit in ALS

CHCHD10 mutations are linked to amyotrophic lateral sclerosis, but their mode of action is unclear. In a 29‐year‐old patient with rapid disease progression, we discovered a novel mutation (Q108P) in a conserved residue within the coiled‐coil‐helix‐coiled‐coil‐helix (CHCH) domain. The aggressive clin...

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Detalles Bibliográficos
Autores principales: Lehmer, Carina, Schludi, Martin H, Ransom, Linnea, Greiling, Johanna, Junghänel, Michaela, Exner, Nicole, Riemenschneider, Henrick, van der Zee, Julie, Van Broeckhoven, Christine, Weydt, Patrick, Heneka, Michael T, Edbauer, Dieter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5991575/
https://www.ncbi.nlm.nih.gov/pubmed/29789341
http://dx.doi.org/10.15252/emmm.201708558

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