A splicing silencer in SMN2 intron 6 is critical in spinal muscular atrophy.
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DOI: 10.1093/hmg/ddac260
Abstract: Spinal muscular atrophy (SMA) is a fatal neuromuscular disease caused by homozygous deletions or mutations of the SMN1 gene. SMN2 is a paralogous gene of SMN1 and a modifying gene of SMA. A better understanding… read more here.
Keywords: smn2; spinal muscular; smn2 exon; muscular atrophy ... See more keywords
NOVA1 promotes SMN2 exon 7 splicing by binding the UCAC motif and increases SMN protein expression
Sign Up to like & getrecommendations! Published in 2022 at "Neural Regeneration Research"
DOI: 10.4103/1673-5374.339005
Abstract: [INLINE:1] Spinal muscular atrophy (SMA) is a rare hereditary neuromuscular disease with a high lethality rate in infants. Variants in the homologous genes survival of motor neuron (SMN)1 and SMN2 have been reported to be… read more here.
Keywords: smn2; ucac motif; smn2 exon; expression ... See more keywords