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Biochim Biophys Acta. 2015 Apr;1852(4):685-92. doi: 10.1016/j.bbadis.2014.07.024. Epub 2014 Aug 1.

Molecular mechanisms and animal models of spinal muscular atrophy.

Author information

1
Departments of Pediatrics, Neurology and Physiology, Northwestern University Feinberg School of Medicine, Lurie Children's Hospital of Chicago Research Center, IL 60611, Chicago.
2
Northwestern University Feinberg School of Medicine, IL 60611, Chicago.
3
State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, China.
4
Departments of Pediatrics, Neurology and Physiology, Northwestern University Feinberg School of Medicine, Lurie Children's Hospital of Chicago Research Center, IL 60611, Chicago. Electronic address: ma@northwestern.edu.

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.

KEYWORDS:

Animal disease models; C. elegans; Drosophila; SMA; SMN; Zebrafish

PMID:
25088406
DOI:
10.1016/j.bbadis.2014.07.024
[Indexed for MEDLINE]
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