Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8478685 | Molecular and Cellular Neuroscience | 2013 | 9 Pages |
Abstract
Alternative splicing is an important mechanism for generating transcript and protein diversity. In the brain, alternative splicing is particularly prevalent, and alternative splicing factors are highly enriched. These include the six members of the CUG-BP, Elav-like family (CELF). This review summarizes what is known about the expression of different CELF proteins in the nervous system and the evidence that they are important in neural development and function. The involvement of CELF proteins in the pathogenesis of a number of neurodegenerative disorders, including myotonic dystrophy, spinocerebellar ataxia, fragile X syndrome, spinal muscular atrophy, and spinal and bulbar muscular atrophy is discussed. Finally, the known targets of CELF-mediated alternative splicing regulation in the nervous system and the functional consequences of these splicing events are reviewed. This article is part of a Special Issue entitled “RNA and splicing regulation in neurodegeneration.”
Keywords
MAPTCrossLinking ImmunoPrecipitationN-methyl-d-aspartate receptor 1CELFMBNLNMDAR1DM1NF1SBMASCASMNAPPspinocerebellar ataxiaspinal muscular atrophyspinal and bulbar muscular atrophyneurological disordersAlternative splicingSMAMyotonic dystrophyBrainNeurofibromin 1survival motor neuronNeuronsMyotonic dystrophy type 1microtubule-associated protein tauamyloid precursor proteinClip
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Authors
Andrea N. Ladd,