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Article

SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins.

Proceedings of the National Academy of Sciences of the United States of America - 28 Sept 1999

Pellizzoni L, Charroux B, Dreyfuss G

Abstract excerpt

Spinal muscular atrophy (SMA) is a common motor neuron degenerative disease and the leading genetic cause of death of young children. The survival of motor neurons (SMN) gene, the SMA disease gene, is homozygously deleted or mutated in more than 98% of SMA patients. The SMN protein interacts with itself, with SMN-interacting protein 1, and with several spliceosomal small nuclear ribonucleoprotein (snRNP) Sm...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 10500148
DOI: 10.1073/pnas.96.20.11167
PMCID: PMC18005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins.PMID 10500148Read ↗

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The SMN Complex at the Crossroad between RNA Metabolism and NeurodegenerationSemantic proximity Read ↗

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SMN in spinal muscular atrophy and snRNP biogenesisSemantic proximity Read ↗

SMN controls neuromuscular junction integrity through U7 snRNPSemantic proximity Read ↗

How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?Semantic proximity Read ↗

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The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 bindingSemantic proximity Read ↗

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