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

An Alternative Splicing Network Links Cell-Cycle Control to Apoptosis

(2010) Michael J. Moore et al.   CELL

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

(2010) Bastian Linder et al.   HUMAN MOLECULAR GENETICS

Human PRP4 kinase is required for stable tri-snRNP association during spliceosomal B complex formation

(2010) Marc Schneider et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

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

The N-terminus of Prp1 (Prp6/U5-102 K) is essential for spliceosome activation in vivo

(2009) Martin Lützelberger et al.   NUCLEIC ACIDS RESEARCH

PRPF31Alternative Splicing and Expression in Human Retina

(2009) Goranka Tanackovic et al.   OPHTHALMIC GENETICS

The protein factors MBNL1 and U2AF65 bind alternative RNA structures to regulate splicing

(2009) M. B. Warf et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A comprehensive functional analysis of tissue specificity of human gene expression

(2008) Zoltan Dezso et al.   BMC BIOLOGY

Multiple Alternative Splicing Markers for Ovarian Cancer

(2008) R. Klinck et al.   CANCER RESEARCH

SMN Deficiency Causes Tissue-Specific Perturbations in the Repertoire of snRNAs and Widespread Defects in Splicing

(2008) Zhenxi Zhang et al.   CELL

Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay

(2008) Thomas Rio Frio et al.   JOURNAL OF CLINICAL INVESTIGATION

Multiple and Specific mRNA Processing Targets for the Major Human hnRNP Proteins

(2008) J. P. Venables et al.   MOLECULAR AND CELLULAR BIOLOGY

Alternative isoform regulation in human tissue transcriptomes

(2008) Eric T. Wang et al.   NATURE

Isolation of an active step I spliceosome and composition of its RNP core

(2008) Sergey Bessonov et al.   NATURE

Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing

(2008) Qun Pan et al.   NATURE GENETICS

ATP-dependent unwinding of U4/U6 snRNAs by the Brr2 helicase requires the C terminus of Prp8

(2008) Corina Maeder et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY