NOVA1 promotes SMN2 exon 7 splicing by binding the UCAC motif and increases SMN protein expression

[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 SMA pathogenic factors. Previous studies showed that a high inclusion rate of...

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書誌詳細

主要な著者:	Li-Li Du, Jun-Jie Sun, Zhi-Heng Chen, Yi-Xiang Shao, Liu-Cheng Wu
フォーマット:	Artigo
言語:	Inglês
出版事項:	Wolters Kluwer Medknow Publications 2022-01-01
シリーズ:	Neural Regeneration Research
主題:	exon 7 inclusion; motor neuron; neuro-oncological ventral antigen 1; smn2 splicing; spinal cord; spinal muscular atrophy; splicing factors; ucac motif
オンライン･アクセス:	http://www.nrronline.org/article.asp?issn=1673-5374;year=2022;volume=17;issue=11;spage=2530;epage=2536;aulast=Du
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