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

Abstract 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 aggres...

Descripció completa

Dades bibliogràfiques

Autors principals:	Carina Lehmer, Martin H Schludi, Linnea Ransom, Johanna Greiling, Michaela Junghänel, Nicole Exner, Henrick Riemenschneider, Julie van der Zee, Christine Van Broeckhoven, Patrick Weydt, Michael T Heneka, Dieter Edbauer
Format:	Artigo
Idioma:	Inglês
Publicat:	Springer Nature 2018-05-01
Col·lecció:	EMBO Molecular Medicine
Matèries:	amyotrophic lateral sclerosis CHCHD10 genetics mitochondria
Accés en línia:	https://doi.org/10.15252/emmm.201708558
Etiquetes:	Afegir etiqueta Sense etiquetes, Sigues el primer a etiquetar aquest registre!