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Article

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

Journal of molecular neuroscience : MN - 1 Jun 2018

Wu Shuang, Li Yun-Lu, Cheng Ning-Yi, Wang Chong, Dong En-Lin, Lu Ying-Qian, Li Jin-Jing, Guo Xin-Xin, Lin Xiang, Lai Lu-Lu, Liu Zhi-Wei, Wang Ning, Chen Wan-Jin

Abstract excerpt

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder caused by survival motor neuron (SMN) protein deficiency leading the loss of motor neurons in the anterior horns of the spinal cord and brainstem. More than 95% of SMA patients are attributed to the homozygous deletion of survival motor neuron 1 (SMN1) gene, and approximately 5% are caused by compound heterozygous with a SMN1 deletion and a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29799103
DOI: 10.1007/s12031-018-1079-1

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.

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c.835-5T>G Variant in SMN1 Gene Causes Transcript Exclusion of Exon 7 and Spinal Muscular Atrophy.PMID 29799103Read ↗

Splicing of the Survival Motor Neuron genes and implications for treatment of SMASemantic proximity Read ↗

A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy.Semantic proximity Read ↗

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A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy.Semantic proximity Read ↗

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

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

A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype.Semantic proximity Read ↗

Splicing of a Critical Exon of Human <i>Survival Motor Neuron</i> Is Regulated by a Unique Silencer Element Located in the Last IntronSemantic proximity Read ↗

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