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Article

Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy.

Human genetics - 1 Mar 2008

Brichta Lars, Garbes Lutz, Jedrzejowska Maria, Grellscheid Sushma-Nagaraja, Holker Irmgard, Zimmermann Katharina, Wirth Brunhilde

Abstract excerpt

Autosomal recessive proximal spinal muscular atrophy (SMA) is a neurodegenerative disorder resulting from functional loss of survival motor neuron 1 (SMN1). Homozygous absence of SMN1 due to deletion or gene conversion accounts for about 96% of SMA cases. In the remaining 4%, subtle SMN1 mutation...

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Source

Identifiers

PMID: 18172693
DOI: 10.1007/s00439-007-0455-7

Genes

SMN1
UPF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18172693-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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