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- W2032093550 abstract "Abstract Ribonucleoprotein (RNP) complexes function in nearly every facet of cellular activity. The spliceosome is an essential RNP that accurately identifies introns and catalytically removes the intervening sequences, providing exquisite control of spatial, temporal, and developmental gene expressions. U‐snRNPs are the building blocks for the spliceosome. A significant amount of insight into the molecular assembly of these essential particles has recently come from a seemingly unexpected area of research: neurodegeneration. Survival motor neuron (SMN) performs an essential role in the maturation of snRNPs, while the homozygous loss of SMN1 results in the development of spinal muscular atrophy (SMA), a devastating neurodegenerative disease. In this review, the function of SMN is examined within the context of snRNP biogenesis and evidence is examined which suggests that the SMN functional defects in snRNP biogenesis may account for the motor neuron pathology observed in SMA. WIREs RNA 2011 2 546–564 DOI: 10.1002/wrna.76 This article is categorized under: RNA Interactions with Proteins and Other Molecules > RNA–Protein Complexes RNA Processing > Processing of Small RNAs RNA in Disease and Development > RNA in Disease" @default.
- W2032093550 created "2016-06-24" @default.
- W2032093550 creator A5013104975 @default.
- W2032093550 creator A5053176977 @default.
- W2032093550 date "2011-02-17" @default.
- W2032093550 modified "2023-09-24" @default.
- W2032093550 title "SMN in spinal muscular atrophy and snRNP biogenesis" @default.
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