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Article

Exclusion of Htra2-beta1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy.

Human genetics - 1 Dec 2000

Helmken C, Wirth B

Abstract excerpt

Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by homozygous mutations of the survival motor neuron gene 1 (SMN1). In rare cases sibs with identical 5q13-homologs and identical SMN1 mutations can show variable phenotypes from unaffected to affected, suggesting the influence of modifying genes. SMN is part of an 800 kDa macromolecular complex that plays an essential role in snRNP biogenesis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11153908
DOI: 10.1007/s004390000409

Genes

SMN1
SMN2

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exclusion of Htra2-beta1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy.PMID 11153908Read ↗

Htra2-β 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 ( SMN2 )Semantic proximity Read ↗

Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1.Semantic proximity Read ↗

hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1Semantic proximity Read ↗

A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy.Semantic proximity Read ↗

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

Spinal muscular atrophy: state-of-the-art and therapeutic perspectives.Semantic proximity Read ↗

Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophySemantic proximity Read ↗

A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophySemantic proximity Read ↗

Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?Semantic proximity Read ↗

Targeting SR Proteins Improves SMN Expression in Spinal Muscular Atrophy CellsSemantic proximity Read ↗

Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing.Semantic proximity Read ↗

SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2beta1Semantic proximity Read ↗

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