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Article

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

Human genetics - 1 Dec 2003

Helmken Claudia, Hofmann Yvonne, Schoenen Frank, Oprea Gabriela, Raschke Heidrun, Rudnik-Schöneborn Sabine, Zerres Klaus, Wirth Brunhilde

Abstract excerpt

Proximal spinal muscular atrophy (SMA) is a neuromuscular disorder caused by homozygous mutations of the SMN1 gene. SMN1 interacts with multiple proteins with functions in snRNP biogenesis, pre-mRNA splicing and presumably neural transport. SMN2, a nearly identical copy of SMN1, produces predominantly exon 7-skipped transcripts, whereas SMN1 mainly produces full-length transcripts. The SR-like splicing factor...

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Source

Identifiers

PMID: 14520560
DOI: 10.1007/s00439-003-1025-2

Genes

SMN1
SMN2
ZPR1

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

Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1.PMID 14520560Read ↗

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

Pathogenesis and therapeutic targets in spinal muscular atrophy (SMA).Semantic 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 ↗

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

An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA).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 ↗

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

ZPR1 prevents R-loop accumulation, upregulates SMN2 expression and rescues spinal muscular atrophySemantic proximity Read ↗

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

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

Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy.Semantic proximity Read ↗

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