Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy

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• 作者：Daniela Scalet^a ; Dario Balestra^a ; Sara Rohban^b ; Matteo Bovolenta^a ; Daniela Perrone^c ; Francesco Bernardi^a ; Stefano Campaner^b ; Mirko Pinotti^a ; ^pnm@unife.it
• 关键词：(up to 6) Seckel syndrome-1 ; Exonic splicing silencer ; modified U1snRNA ; Antisense oligonucleotide ; correction approaches
• 刊名：Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：1863
• 期：1
• 页码：15-20
• 全文大小：622 K
• 卷排序：1863

文摘

The deleterious ATR c.2101 A > G mutation depends on the unfavorable splicing context The mutation promotes exon-skipping by strengthening an Exonic Splicing Silencer An antisense oligonucleotide targeting the c.2101G position recovers exon inclusion A compensatory U1snRNA delivered by Lentivirus rescues ATR expression in MEFSS-1