RNP assembly defects in spinal muscular atrophy

Phillip L. Price, Dmytro Morderer, Wilfried Rossol

Research output: Chapter in Book/Report/Conference proceedingChapter

3 Scopus citations

Abstract

Spinal muscular atrophy (SMA) is a motor neuron disease caused by mutations/deletions within the survival of motor neuron 1 (SMN1) gene that lead to a pathological reduction of SMN protein levels. SMN is part of a multiprotein complex, functioning as a molecular chaperone that facilitates the assembly of spliceosomal small nuclear ribonucleoproteins (snRNP). In addition to its role in spliceosome formation, SMN has also been found to interact with mRNA-binding proteins (mRBPs), and facilitate their assembly into mRNP transport granules. The association of protein and RNA in RNP complexes plays an important role in an extensive and diverse set of cellular processes that regulate neuronal growth, differentiation, and the maturation and plasticity of synapses. This review discusses the role of SMN in RNP assembly and localization, focusing on molecular defects that affect mRNA processing and may contribute to SMA pathology.

Original languageEnglish (US)
Title of host publicationAdvances in Neurobiology
PublisherSpringer New York LLC
Pages143-171
Number of pages29
DOIs
StatePublished - Jan 1 2018

Publication series

NameAdvances in Neurobiology
Volume20
ISSN (Print)2190-5215

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Keywords

  • Molecular chaperone
  • Ribonucleoprotein (RNP)
  • RNA localization
  • RNA processing
  • RNA-binding protein (RBP)
  • Spinal muscular atrophy (SMA)
  • Survival of motor neuron (SMN)

ASJC Scopus subject areas

  • Biochemistry
  • Neurology
  • Developmental Neuroscience
  • Cellular and Molecular Neuroscience

Cite this

Price, P. L., Morderer, D., & Rossol, W. (2018). RNP assembly defects in spinal muscular atrophy. In Advances in Neurobiology (pp. 143-171). (Advances in Neurobiology; Vol. 20). Springer New York LLC. https://doi.org/10.1007/978-3-319-89689-2_6