Version 1
: Received: 5 November 2020 / Approved: 6 November 2020 / Online: 6 November 2020 (08:55:15 CET)
How to cite:
Schiavon, C.; Manor, U. Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease. Preprints2020, 2020110227. https://doi.org/10.20944/preprints202011.0227.v1
Schiavon, C.; Manor, U. Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease. Preprints 2020, 2020110227. https://doi.org/10.20944/preprints202011.0227.v1
Schiavon, C.; Manor, U. Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease. Preprints2020, 2020110227. https://doi.org/10.20944/preprints202011.0227.v1
APA Style
Schiavon, C., & Manor, U. (2020). Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease. Preprints. https://doi.org/10.20944/preprints202011.0227.v1
Chicago/Turabian Style
Schiavon, C. and Uri Manor. 2020 "Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease" Preprints. https://doi.org/10.20944/preprints202011.0227.v1
Abstract
Charcot-Marie-Tooth (CMT) disease is the most commonly inherited neurological disorder, defined by progressive deterioration of the peripheral nerves. Clinical manifestations of CMT mutations are typically limited to peripheral neurons, the longest cells in the body. Currently, mutations in at least 80 different genes are associated with CMT and new mutations are regularly being discovered. A large portion of the proteins mutated in axonal CMT have documented roles in mitochondrial mobility. This suggests that trafficking defects may be a common underlying mechanism in CMT. This review will focus on the potential role of altered mitochondrial mobility in the pathogenesis of axonal CMT, highlighting the challenges and opportunities to this “impaired mobility” model of the disease.
Keywords
Organelle transport; Charcot-Marie-Tooth; Axonal transport deficiency; Neurodegeneration; Cytoskeleton; Mitochondria
Subject
Medicine and Pharmacology, Immunology and Allergy
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
