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Article

hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing

12 Sept 2007

Abstract excerpt

Homozygous deletion or mutation of the survival of motor neuron 1 gene (SMN1) causes spinal muscular atrophy. SMN1 has been duplicated in humans to create SMN2, which produces a low level of functional SMN protein. However, most SMN2 transcripts lack exon 7, resulting in a non-functional protein. A single nucleotide difference near the 5' end of exon 7 largely accounts for SMN2 exon 7 skipping, an effect that has...

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PMID: 17884807
DOI: 10.1093/hmg/ddm276

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hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicingPMID 17884807Read ↗

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The Regulation and Regulatory Activities of Alternative Splicing of the SMN GeneSemantic proximity Read ↗

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

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