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Article

Mouse survival motor neuron alleles that mimic SMN2 splicing and are inducible rescue embryonic lethality early in development but not late.

PloS one - 29 Dec 2010

Hammond Suzan M, Gogliotti Rocky G, Rao Vamshi, Beauvais Ariane, Kothary Rashmi, DiDonato Christine J

Abstract excerpt

Spinal muscular atrophy (SMA) is caused by low survival motor neuron (SMN) levels and patients represent a clinical spectrum due primarily to varying copies of the survival motor neuron-2 (SMN2) gene. Patient and animals studies show that disease severity is abrogated as SMN levels increase. Since therapies currently being pursued target the induction of SMN, it will be important to understand the dosage, timing...

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Source

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Identifiers

PMID: 21249120
DOI: 10.1371/journal.pone.0015887
PMCID: PMC3012126

Genes

SMN2

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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