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Article

SMN oligomerization defect correlates with spinal muscular atrophy severity.

Nature genetics - 1 May 1998

Lorson C L, Strasswimmer J, Yao J M, Baleja J D, Hahnen E, Wirth B, Le T, Burghes A H, Androphy E J

Abstract excerpt

Spinal muscular atrophy (SMA) is a motor-neuron disorder resulting from anterior-horn-cell death. The autosomal recessive form has a carrier frequency of 1 in 50 and is the most common genetic cause of infant death. SMA is categorized as types I-III, ranging from severe to mild, based upon age of onset and clinical course. Two closely flanking copies of the survival motor neuron (SMN) gene are on chromosome 5q13...

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Source

Identifiers

PMID: 9590291
DOI: 10.1038/ng0598-63

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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SMN oligomerization defect correlates with spinal muscular atrophy severity.PMID 9590291Read ↗

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Targeting of SMN to Cajal bodies is mediated by self-association.Semantic proximity Read ↗

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

In Search of Spinal Muscular Atrophy Disease ModifiersSemantic proximity Read ↗

Spinal Muscular Atrophy: Overview of Molecular Diagnostic Approaches.Semantic proximity Read ↗

The survival motor neuron protein in spinal muscular atrophySemantic proximity Read ↗

Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type IIISemantic proximity Read ↗

A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA miceSemantic proximity Read ↗

Genetic circuitry of Survival motor neuron, the gene underlying spinal muscular atrophy.Semantic proximity Read ↗

Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative DiseasesSemantic proximity Read ↗

Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.Semantic proximity Read ↗

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