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

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...

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Main Authors: 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: Article
Language:English
Published: Springer Nature 2018-05-01
Series:EMBO Molecular Medicine
Subjects:
amyotrophic lateral sclerosis
CHCHD10
genetics
mitochondria
Online Access:https://doi.org/10.15252/emmm.201708558
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https://doi.org/10.15252/emmm.201708558

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