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Article

Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy.

Brain research - 26 Jun 2012

Workman Eileen, Kolb Stephen J, Battle Daniel J

Abstract excerpt

The SMN protein is essential and participates in the assembly of macromolecular complexes of RNA and protein in all cells. The best-characterized function of SMN is as an assembler of spliceosomal small nuclear ribonucleoproteins (snRNPs). SMN performs this function as part of a complex with several other proteins called Gemins. snRNPs are assembled in the cytoplasm in a stepwise manner and then are imported to...

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Topics

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Share to SMN1 gene
Share to Motor Neuron Disease
Share to Motor Neurons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscular Atrophy, Spinal

Share to Mutation

Share to Ribonucleoproteins, Small Nuclear

Share to Survival of Motor Neuron 1 Protein

Source

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Identifiers

PMID: 22424789
DOI: 10.1016/j.brainres.2012.02.051
PMCID: PMC3448484

Genes

SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy.PMID 22424789Read ↗

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Gemins modulate the expression and activity of the SMN complexSemantic proximity Read ↗

Emerging Roles of Gemin5: From snRNPs Assembly to Translation ControlSemantic proximity Read ↗

SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins.Semantic proximity Read ↗

Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs.Semantic proximity Read ↗

Gemin proteins are required for efficient assembly of Sm-class ribonucleoproteinsSemantic proximity Read ↗

The SMN-ribosome interplay: a new opportunity for Spinal Muscular Atrophy therapies.Semantic proximity Read ↗

SMN-independent subunits of the SMN complex. Identification of a small nuclear ribonucleoprotein assembly intermediate.Semantic proximity Read ↗

SMN and Gemins: ‘We are family’ … or are we?Semantic proximity Read ↗

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