PUBLICATION
Molecular Mechanisms and Animal Models of Spinal Muscular Atrophy
- Authors
- Edens, B.M., Ajroud-Driss, S., Ma, L., Ma, Y.C.
- ID
- ZDB-PUB-140805-4
- Date
- 2015
- Source
- Biochimica et biophysica acta. Molecular basis of disease 1852(4): 685-692 (Review)
- Registered Authors
- Keywords
- C. elegans, Drosophila, Mouse, SMA, SMN, Zebrafish, animal disease models
- MeSH Terms
-
- Animals
- Disease Models, Animal*
- Humans
- Motor Neurons/metabolism*
- Motor Neurons/pathology*
- Muscular Atrophy, Spinal/genetics*
- Muscular Atrophy, Spinal/metabolism*
- Muscular Atrophy, Spinal/pathology
- Survival of Motor Neuron 1 Protein/genetics
- Survival of Motor Neuron 1 Protein/metabolism
- PubMed
- 25088406 Full text @ BBA Molecular Basis of Disease
Citation
Edens, B.M., Ajroud-Driss, S., Ma, L., Ma, Y.C. (2015) Molecular Mechanisms and Animal Models of Spinal Muscular Atrophy. Biochimica et biophysica acta. Molecular basis of disease. 1852(4):685-692.
Abstract
Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, is characterized by the degeneration of spinal motor neurons and muscle atrophy. Although the genetic cause of SMA has been mapped to the Survival Motor Neuron1 (SMN1) gene, mechanisms underlying selective motor neuron degeneration in SMA remain largely unknown. Here we review the latest developments and our current understanding of the molecular mechanisms underlying SMA pathogenesis, focusing on the animal model systems that have been developed, as well as new diagnostic and treatment strategies that have been identified using these model systems. This article is part of a Special Issue entitled: Neuromuscular Diseases: Pathology and Molecular Pathogenesis.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping