Retinitis Pigmentosa Mutations ofSNRNP200Enhance Cryptic Splice-Site Recognition

Genes and mutations causing retinitis pigmentosa

(2013) S P Daiger et al.   CLINICAL GENETICS

Inhibition of RNA Helicase Brr2 by the C-Terminal Tail of the Spliceosomal Protein Prp8

(2013) S. Mozaffari-Jovin et al.   SCIENCE

Structure, function and regulation of spliceosomal RNA helicases

(2012) Olivier Cordin et al.   CURRENT OPINION IN CELL BIOLOGY

Brr2p-mediated conformational rearrangements in the spliceosome during activation and substrate repositioning

(2012) D. Hahn et al.   GENES & DEVELOPMENT

hnRNP A1 Proofreads 3′ Splice Site Recognition by U2AF

(2012) Joao Paulo Tavanez et al.   MOLECULAR CELL

Dynamic Protein-Protein Interaction Wiring of the Human Spliceosome

(2012) Anna Hegele et al.   MOLECULAR CELL

A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family

(2012) Tiecheng Liu et al.   PLoS One

Structural basis for functional cooperation between tandem helicase cassettes in Brr2-mediated remodeling of the spliceosome

(2012) K. F. Santos et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa

(2011) Paola Benaglio et al.   HUMAN MUTATION

Histone Deacetylase Activity Modulates Alternative Splicing

(2011) Jarmila Hnilicová et al.   PLoS One

Proofreading and spellchecking: A two-tier strategy for pre-mRNA splicing quality control

(2011) D. E. Egecioglu et al.   RNA

The splice is right: Guarantors of fidelity in pre-mRNA splicing

(2011) D. S. Horowitz   RNA

The differential interaction of snRNPs with pre-mRNA reveals splicing kinetics in living cells

(2010) Martina Huranová et al.   JOURNAL OF CELL BIOLOGY

Recombineering BAC transgenes for protein tagging

(2010) Giovanni Ciotta et al.   METHODS

In vivo kinetics of U4/U6·U5 tri-snRNP formation in Cajal bodies

(2010) Ivan Novotný et al.   MOLECULAR BIOLOGY OF THE CELL

The DEAH Box ATPases Prp16 and Prp43 Cooperate to Proofread 5′ Splice Site Cleavage during Pre-mRNA Splicing

(2010) Prakash Koodathingal et al.   MOLECULAR CELL

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

Common Design Principles in the Spliceosomal RNA Helicase Brr2 and in the Hel308 DNA Helicase

(2009) Vladimir Pena et al.   MOLECULAR CELL

Structural evidence for consecutive Hel308-like modules in the spliceosomal ATPase Brr2

(2009) Lingdi Zhang et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Cryptic splicing sites are differentially utilized in vivo

(2008) Amel Haj Khelil et al.   FEBS Journal

BAC TransgeneOmics: a high-throughput method for exploration of protein function in mammals

(2008) Ina Poser et al.   NATURE METHODS

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

A role for ubiquitin in the spliceosome assembly pathway

(2008) Priya Bellare et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY