New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients.
Cologne, Audric; Benoit-Pilven, Clara; Besson, Alicia; Putoux, Audrey; Campan-Fournier, Amandine; Bober, Michael B; De Die-Smulders, Christine E M; Paulussen, Aimee D C; Pinson, Lucile; Toutain, Annick; Roifman, Chaim M; Leutenegger, Anne-Louise; Mazoyer, Sylvie; Edery, Patrick; Lacroix, Vincent.
; 25(9): 1130-1149, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31175170
Evolutionary dynamics of U12-type spliceosomal introns.
A day in the life of the spliceosome.
Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA.
A conserved intronic U1 snRNP-binding sequence promotes trans-splicing in Drosophila.
Biochemical defects in minor spliceosome function in the developmental disorder MOPD I.
Structure of an Intron Lariat Spliceosome from Saccharomyces cerevisiae.
The surveillance of pre-mRNA splicing is an early step in <i>C. elegans</i> RNAi of endogenous genes.
U6 snRNA intron insertion occurred multiple times during fungi evolution.
Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.