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RNP Assembly Defects in Spinal Muscular Atrophy

  • Phillip L. Price
  • Dmytro Morderer
  • Wilfried Rossoll
Chapter
Part of the Advances in Neurobiology book series (NEUROBIOL, volume 20)

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.

Keywords

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

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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Phillip L. Price
    • 1
    • 2
  • Dmytro Morderer
    • 1
  • Wilfried Rossoll
    • 1
  1. 1.Department of NeuroscienceMayo ClinicJacksonvilleUSA
  2. 2.Department of Cell BiologyEmory UniversityAtlantaUSA

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