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Article

Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype.

European journal of human genetics : EJHG - 1 Feb 2001

Sossi V, Giuli A, Vitali T, Tiziano F, Mirabella M, Antonelli A, Neri G, Brahe C

Abstract excerpt

Autosomal recessive spinal muscular atrophy (SMA) is a common motor neuron disease caused by absence or mutation in the survival motor neuron (SMN1) gene. SNM1 and a nearly identical copy, SMN2, encode identical proteins, but SMN2 only produces a little full length protein due to alternative splicing. The level of functional SMN protein and the number of SMN2 genes correlate with the clinical phenotype ranging...

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Source

Identifiers

PMID: 11313744
DOI: 10.1038/sj.ejhg.5200599

Genes

SMN2
SMN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype.PMID 11313744Read ↗

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

A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levelsSemantic proximity Read ↗

SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblastsSemantic proximity Read ↗

c.835-5T>G Variant in SMN1 Gene Causes Transcript Exclusion of Exon 7 and Spinal Muscular Atrophy.Semantic proximity Read ↗

A novel human-specific splice isoform alters the critical C-terminus of Survival Motor Neuron proteinSemantic proximity Read ↗

Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteinsSemantic proximity Read ↗

A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity.Semantic proximity Read ↗

Survival motor neuron (SMN) protein interacts with transcription corepressor mSin3A.Semantic proximity Read ↗

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.Semantic proximity Read ↗

The survival motor neuron (SMN) protein: effect of exon loss and mutation on protein localization.Semantic proximity Read ↗

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.Semantic proximity Read ↗

SMN Is Essential for the Biogenesis of U7 Small Nuclear Ribonucleoprotein and 3′-End Formation of Histone mRNAsSemantic proximity Read ↗

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