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Article

Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice.

Human molecular genetics - 1 Nov 2020

McGovern Vicki L, Kray Kaitlyn M, Arnold W David, Duque Sandra I, Iyer Chitra C, Massoni-Laporte Aurélie, Workman Eileen, Patel Aalapi, Battle Daniel J, Burghes Arthur H M

Abstract excerpt

Spinal muscular atrophy is caused by reduced levels of SMN resulting from the loss of SMN1 and reliance on SMN2 for the production of SMN. Loss of SMN entirely is embryonic lethal in mammals. There are several SMN missense mutations found in humans. These alleles do not show partial function in the absence of wild-type SMN and cannot rescue a null Smn allele in mice. However, these human SMN missense allele...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscular Atrophy, Spinal

Share to Protein Multimerization

Share to Ribonucleoproteins, Small Nuclear

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Source

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Identifiers

PMID: 33084884
DOI: 10.1093/hmg/ddaa235
PMCID: PMC7788290

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.

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