Molecular and Cellular Mechanisms Affected in ALS

Laura Le Gall, Ekene Anakor, Owen Connolly, Geetha Vijayakumar, William Duddy, Stephanie Duguez

Research output: Contribution to journalReview articlepeer-review

22 Citations (Scopus)
22 Downloads (Pure)


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.

Original languageEnglish
Article number101
Pages (from-to)1-34
Number of pages34
JournalJournal of Personalized Medicine
Issue number3
Publication statusPublished - 25 Aug 2020


  • oxidative stress
  • mitochondria dysfunction
  • axonal transport
  • autophagy
  • endocytosis
  • secretion
  • RNA metabolism
  • MND
  • excitotoxicity
  • Oxidative stress
  • Secretion
  • Autophagy
  • Endocytosis
  • Mitochondria dysfunction
  • Excitotoxicity
  • Axonal transport


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