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Article

SMA-causing missense mutations in survival motor neuron (Smn) display a wide range of phenotypes when modeled in Drosophila.

PLoS genetics - 1 Aug 2014

Praveen Kavita, Wen Ying, Gray Kelsey M, Noto John J, Patlolla Akash R, Van Duyne Gregory D, Matera A Gregory

Abstract excerpt

Mutations in the human survival motor neuron 1 (SMN) gene are the primary cause of spinal muscular atrophy (SMA), a devastating neuromuscular disorder. SMN protein has a well-characterized role in the biogenesis of small nuclear ribonucleoproteins (snRNPs), core components of the spliceosome. Additional tissue-specific and global functions have been ascribed to SMN; however, their relevance to SMA pathology is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscular Atrophy, Spinal

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Source

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Identifiers

PMID: 25144193
DOI: 10.1371/journal.pgen.1004489
PMCID: PMC4140637

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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