Le Gall, Laura;
Anakor, Ekene;
Connolly, Owen;
Vijayakumar, Udaya Geetha;
Duddy, William J;
Duguez, Stephanie;
(2020)
Molecular and Cellular Mechanisms Affected in ALS.
Journal of Personalized Medicine
, 10
(3)
, Article 101. 10.3390/jpm10030101.
Preview |
Text
jpm-10-00101.pdf - Published Version Download (3MB) | Preview |
Abstract
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.
| Type: | Article |
|---|---|
| Title: | Molecular and Cellular Mechanisms Affected in ALS |
| Location: | Switzerland |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.3390/jpm10030101 |
| Publisher version: | https://doi.org/10.3390/jpm10030101 |
| Language: | English |
| Additional information: | 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. |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Health Care Sciences & Services, Medicine, General & Internal, General & Internal Medicine, oxidative stress, mitochondria dysfunction, axonal transport, autophagy, endocytosis, secretion, excitotoxicity, RNA metabolism, MND, AMYOTROPHIC-LATERAL-SCLEROSIS, MOTOR-NEURON DISEASE, ENDOPLASMIC-RETICULUM STRESS, TRANSGENIC MOUSE MODEL, RNA-BINDING PROTEIN, AMINO-ACID LEVELS, SPINAL-CORD, HYALINE INCLUSIONS, AXONAL-TRANSPORT, OXIDATIVE STRESS |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10144619 |
Archive Staff Only
 |
View Item |
