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Article

Analysis of mutations in the tudor domain of the survival motor neuron protein SMN.

European journal of human genetics : EJHG - 1 Jul 1999

Mohaghegh P, Rodrigues N R, Owen N, Ponting C P, Le T T, Burghes A H, Davies K E

Abstract excerpt

Autosomal recessive childhood onset spinal muscular atrophy (SMA) is a leading cause of infant mortality caused by mutations in the survival motor neuron (SMN) gene. The SMN protein is involved in RNA processing and is localised in structures called GEMs in the nucleus. Nothing is yet understood about why mutations in SMN gene result in the selective motor neuron loss observed in patients. The SMN protein domains...

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Source

Identifiers

PMID: 10439956
DOI: 10.1038/sj.ejhg.5200346

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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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Analysis of mutations in the tudor domain of the survival motor neuron protein SMN.PMID 10439956Read ↗

SMN tudor domain structure and its interaction with the Sm proteins.Semantic proximity Read ↗

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Identification of survival motor neuron as a transcriptional activator-binding proteinSemantic proximity Read ↗

SMA mutations in SMN Tudor and C-terminal domains destabilize the protein.Semantic proximity Read ↗

The TUDOR domain of SMN is an H3K79 <sup>me1</sup> histone mark readerSemantic proximity Read ↗

Characterization of a gene encoding survival motor neuron (SMN)-related protein, a constituent of the spliceosome complexSemantic proximity Read ↗

The tudor protein survival motor neuron (SMN) is a chromatin-binding protein that interacts with methylated histone H3 lysine 79Semantic proximity Read ↗

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

Essential Role for the Tudor Domain of SMN in Spliceosomal U snRNP Assembly: Implications for Spinal Muscular AtrophySemantic proximity Read ↗

Spinal muscular atrophy pathogenic mutations impair the axonogenic properties of axonal-survival of motor neuron.Semantic proximity Read ↗

Genome-wide identification of mRNAs associated with the protein SMN whose depletion decreases their axonal localizationSemantic proximity Read ↗

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

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