Article
Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age.
Neurobiology of disease - 1 Oct 2013
Eschbach Judith, Sinniger Jérôme, Bouitbir Jamal, Fergani Anissa, Schlagowski Anna-Isabel, Zoll Joffrey, Geny Bernard, René Frédérique, Larmet Yves, Marion Vincent, Baloh Robert H, Harms Matthew B, Shy Michael E, Messadeq Nadia, Weydt Patrick, Loeffler Jean-Philippe, Ludolph Albert C, Dupuis Luc
Abstract excerpt
Mutations in the DYNC1H1 gene encoding for dynein heavy chain cause two closely related human motor neuropathies, dominant spinal muscular atrophy with lower extremity predominance (SMA-LED) and axonal Charcot-Marie-Tooth (CMT) disease, and lead to sensory neuropathy and striatal atrophy in mutant mice. Dynein is the molecular motor carrying mitochondria retrogradely on microtubules, yet the consequences of...
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