Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa†

Autosomal-Dominant Retinitis Pigmentosa Caused by a Mutation in SNRNP200, a Gene Required for Unwinding of U4/U6 snRNAs

(2009) Chen Zhao et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Spliceosome: Design Principles of a Dynamic RNP Machine

(2009) Markus C. Wahl et al.   CELL

A mutation linked to retinitis pigmentosa in HPRP31 causes protein instability and impairs its interactions with spliceosomal snRNPs

(2009) M. Huranova et al.   HUMAN MOLECULAR GENETICS

Nonsense-Mediated mRNA Decay Effectors Are Essential for Zebrafish Embryonic Development and Survival

(2009) N. Wittkopp et al.   MOLECULAR AND CELLULAR BIOLOGY

Nonsense-mediated mRNA decay mutes the splicing defects of spliceosome component mutations

(2009) T. Kawashima et al.   RNA

RBM5/Luca-15/H37 Regulates Fas Alternative Splice Site Pairing after Exon Definition

(2008) Sophie Bonnal et al.   MOLECULAR CELL

Polypyrimidine tract binding protein controls the transition from exon definition to an intron defined spliceosome

(2008) Shalini Sharma et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY