Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes

Wilfried Rossol, Gary J. Bassell

Research output: Chapter in Book/Report/Conference proceedingChapter

52 Citations (Scopus)

Abstract

Spinal muscular atrophy (SMA) is a neurodegenerative disease that results from loss of function of the SMN1 gene, encoding the ubiquitously expressed survival of motor neuron (SMN) protein, a protein best known for its housekeeping role in the SMN-Gemin multiprotein complex involved in spliceosomal small nuclear ribonucleoprotein (snRNP) assembly. However, numerous studies reveal that SMN has many interaction partners, including mRNA binding proteins and actin regulators, suggesting its diverse role as a molecular chaperone involved in mRNA metabolism. This review focuses on studies suggesting an important role of SMN in regulating the assembly, localization, or stability of axonal messenger ribonucleoprotein (mRNP) complexes. Various animal models for SMA are discussed, and phenotypes described that indicate a predominant function for SMN in neuronal development and synapse formation. These models have begun to be used to test different therapeutic strategies that have the potential to restore SMN function. Further work to elucidate SMN mechanisms within motor neurons and other cell types involved in neuromuscular circuitry hold promise for the potential treatment of SMA.

Original languageEnglish (US)
Title of host publicationCell Biology of the Axon
Pages289-326
Number of pages38
Volume48
DOIs
StatePublished - 2009
Externally publishedYes

Publication series

NameResults and Problems in Cell Differentiation
Volume48
ISSN (Print)0080-1844
ISSN (Electronic)1861-0412

Fingerprint

Spinal Muscular Atrophy
Ribonucleoproteins
Motor Neurons
Proteins
Small Nuclear Ribonucleoproteins
Microfilament Proteins
Multiprotein Complexes
Housekeeping
Messenger RNA
Molecular Chaperones
Neurodegenerative Diseases
Synapses
Animal Models
Phenotype

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

Cite this

Rossol, W., & Bassell, G. J. (2009). Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes. In Cell Biology of the Axon (Vol. 48, pp. 289-326). (Results and Problems in Cell Differentiation; Vol. 48). https://doi.org/10.1007/400_2009_4

Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes. / Rossol, Wilfried; Bassell, Gary J.

Cell Biology of the Axon. Vol. 48 2009. p. 289-326 (Results and Problems in Cell Differentiation; Vol. 48).

Research output: Chapter in Book/Report/Conference proceedingChapter

Rossol, W & Bassell, GJ 2009, Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes. in Cell Biology of the Axon. vol. 48, Results and Problems in Cell Differentiation, vol. 48, pp. 289-326. https://doi.org/10.1007/400_2009_4
Rossol W, Bassell GJ. Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes. In Cell Biology of the Axon. Vol. 48. 2009. p. 289-326. (Results and Problems in Cell Differentiation). https://doi.org/10.1007/400_2009_4
Rossol, Wilfried ; Bassell, Gary J. / Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes. Cell Biology of the Axon. Vol. 48 2009. pp. 289-326 (Results and Problems in Cell Differentiation).
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