Absence of an Intron Splicing Silencer in Porcine Smn1 Intron 7 Confers Immunity to the Exon Skipping Mutation in Human SMN2

por Doktor, Thomas Koed, Schrøder, Lisbeth Dahl, Andersen, Henriette Skovgaard, Brøner, Sabrina, Kitewska, Anna, Sørensen, Charlotte Brandt, Andresen, Brage Storstein
Publicado 2014

Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells

por Bruun, Gitte H, Bang, Jeanne M V, Christensen, Lise L, Brøner, Sabrina, Petersen, Ulrika S S, Guerra, Barbara, Grønning, Alexander G B, Doktor, Thomas K, Andresen, Brage S
Publicado 2018

RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns

por Doktor, Thomas Koed, Hua, Yimin, Andersen, Henriette Skovgaard, Brøner, Sabrina, Liu, Ying Hsiu, Wieckowska, Anna, Dembic, Maja, Bruun, Gitte Hoffmann, Krainer, Adrian R., Andresen, Brage Storstein
Publicado 2017