Identification of a PRPF4 Loss-of-Function Variant That Abrogates U4/U6.U5 Tri-snRNP Integration and Is Associated with Retinitis Pigmentosa

PRPF4 mutations cause autosomal dominant retinitis pigmentosa

(2014) Xue Chen et al.   HUMAN MOLECULAR GENETICS

Retinitis Pigmentosa Mutations ofSNRNP200Enhance Cryptic Splice-Site Recognition

(2013) Zuzana Cvačková et al.   HUMAN MUTATION

Crystal structure of Prp8 reveals active site cavity of the spliceosome

(2013) Wojciech P. Galej et al.   NATURE

Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

(2012) Sandra M. Pasternack et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation of a U2 snRNA Gene Causes Global Disruption of Alternative Splicing and Neurodegeneration

(2012) Yichang Jia et al.   CELL

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

CNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa with Incomplete Penetrance

(2012) Giulia Venturini et al.   PLoS Genetics

A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa

(2011) Goranka Tanackovic et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa

(2011) Goranka Tanackovic et al.   HUMAN MOLECULAR GENETICS

Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

(2011) P. Edery et al.   SCIENCE

Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

(2011) H. He et al.   SCIENCE

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

(2010) Bastian Linder et al.   HUMAN MOLECULAR GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

RNA and Disease

(2009) Thomas A. Cooper et al.   CELL

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

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Tdrd3 is a novel stress granule-associated protein interacting with the Fragile-X syndrome protein FMRP

(2008) Bastian Linder et al.   HUMAN MOLECULAR GENETICS

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

(2008) Sophie Bonnal et al.   MOLECULAR CELL