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Article

Changes in intra-nuclear mobility of mature snRNPs provide a mechanism for splicing defects in Spinal Muscular Atrophy.

1 Jan 2012

Abstract excerpt

It is becoming increasingly clear that defects in RNA metabolism can lead to disease. Spinal muscular atrophy (SMA), a leading genetic cause of infant mortality, results from insufficient amounts of survival motor neuron (SMN) protein. SMN is required for the biogenesis of small nuclear ribonucleoproteins (snRNPs): essential components of the spliceosome. Splicing abnormalities have been detected in models of SMA...

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PMID: 22393244
DOI: 10.1242/jcs.096867

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SMN controls neuromuscular junction integrity through U7 snRNPSemantic proximity Read ↗

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