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Molecular and Cellular Mechanisms Affected in ALS

Northern Ireland Center for Stratified/Personalised Medicine, Biomedical Sciences Research Institute, Ulster University, Derry-Londonderry BT47, UK
NIHR Biomedical Research Centre, University College London, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital NHS Trust, London WC1N 1EH, UK
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
J. Pers. Med. 2020, 10(3), 101;
Received: 20 July 2020 / Revised: 17 August 2020 / Accepted: 22 August 2020 / Published: 25 August 2020
Amyotrophic lateral sclerosis (ALS) is a terminal late-onset condition characterized by the loss of upper and lower motor neurons. Mutations in more than 30 genes are associated to the disease, but these explain only ~20% of cases. The molecular functions of these genes implicate a wide range of cellular processes in ALS pathology, a cohesive understanding of which may provide clues to common molecular mechanisms across both familial (inherited) and sporadic cases and could be key to the development of effective therapeutic approaches. Here, the different pathways that have been investigated in ALS are summarized, discussing in detail: mitochondrial dysfunction, oxidative stress, axonal transport dysregulation, glutamate excitotoxicity, endosomal and vesicular transport impairment, impaired protein homeostasis, and aberrant RNA metabolism. This review considers the mechanistic roles of ALS-associated genes in pathology, viewed through the prism of shared molecular pathways. View Full-Text
Keywords: oxidative stress; mitochondria dysfunction; axonal transport; autophagy; endocytosis; secretion; excitotoxicity; RNA metabolism; MND oxidative stress; mitochondria dysfunction; axonal transport; autophagy; endocytosis; secretion; excitotoxicity; RNA metabolism; MND
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MDPI and ACS Style

Le Gall, L.; Anakor, E.; Connolly, O.; Vijayakumar, U.G.; Duddy, W.J.; Duguez, S. Molecular and Cellular Mechanisms Affected in ALS. J. Pers. Med. 2020, 10, 101.

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