Title of article :
Putting some spine into alternative splicing
Bernard Khoo، نويسنده , , Scott A Akker، نويسنده , , Shern L Chew، نويسنده ,
Issue Information :
ماهنامه با شماره پیاپی سال 2003
Spinal muscular atrophy is a neurodegenerative disease caused by mutations of the SMN1 gene. The homologous SMN2 gene is unable to complement SMN1 because of a crucial mutation in an exonic splicing enhancer, leading to alternative splicing and exclusion of exon 7. Two recent papers show that the defect in splicing of exon 7 of SMN2 is specifically corrected by small synthetic effectors. These new and specific approaches have potential in the treatment of diseases caused by defective splicing.
Journal title :
Trends in Biotechnology