Mutations in spliceosomal proteins and retina degeneration

Defective control of pre–messenger RNA splicing in human disease

(2016) Benoit Chabot et al.   JOURNAL OF CELL BIOLOGY

The Spliceosome: The Ultimate RNA Chaperone and Sculptor

(2016) Panagiotis Papasaikas et al.   TRENDS IN BIOCHEMICAL SCIENCES

SnapShot: Spliceosome Dynamics I

(2015) Markus C. Wahl et al.   CELL

mRNA metabolism and neuronal disease

(2015) Bastian Linder et al.   FEBS LETTERS

The large N-terminal region of the Brr2 RNA helicase guides productive spliceosome activation

(2015) Eva Absmeier et al.   GENES & DEVELOPMENT

Functional Splicing Network Reveals Extensive Regulatory Potential of the Core Spliceosomal Machinery

(2015) Panagiotis Papasaikas et al.   MOLECULAR CELL

U1 snRNP is mislocalized in ALS patient fibroblasts bearing NLS mutations in FUS and is required for motor neuron outgrowth in zebrafish

(2015) Yong Yu et al.   NUCLEIC ACIDS RESEARCH

FUS functions in coupling transcription to splicing by mediating an interaction between RNAP II and U1 snRNP

(2015) Yong Yu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structural basis of pre-mRNA splicing

(2015) Jing Hang et al.   SCIENCE

Structure of a yeast spliceosome at 3.6-angstrom resolution

(2015) Chuangye Yan et al.   SCIENCE

SART3-Dependent Accumulation of Incomplete Spliceosomal snRNPs in Cajal Bodies

(2015) Ivan Novotný et al.   Cell Reports

A composite double-/single-stranded RNA-binding region in protein Prp3 supports tri-snRNP stability and splicing

(2015) Sunbin Liu et al.   eLife

Crystal structure of human U1 snRNP, a small nuclear ribonucleoprotein particle, reveals the mechanism of 5′ splice site recognition

(2015) Yasushi Kondo et al.   eLife

Structural studies of the spliceosome: zooming into the heart of the machine

(2014) Wojciech P Galej et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

PRPF4 mutations cause autosomal dominant retinitis pigmentosa

(2014) Xue Chen et al.   HUMAN MOLECULAR GENETICS

A missense mutation in the splicing factor geneDHX38is associated with early-onset retinitis pigmentosa with macular coloboma

(2014) Muhammad Ajmal et al.   JOURNAL OF MEDICAL GENETICS

PRPF8 defects cause missplicing in myeloid malignancies

(2014) A Kurtovic-Kozaric et al.   LEUKEMIA

A day in the life of the spliceosome

(2014) A. Gregory Matera et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

(2014) Bastian Linder et al.   PLoS One

Novel regulatory principles of the spliceosomal Brr2 RNA helicase and links to retinal disease in humans

(2014) Sina Mozaffari-Jovin et al.   RNA Biology

Genes and mutations causing retinitis pigmentosa

(2013) S P Daiger et al.   CLINICAL GENETICS

RNA structure analysis of human spliceosomes reveals a compact 3D arrangement of snRNAs at the catalytic core

(2013) Maria Anokhina et al.   EMBO JOURNAL

Dissection of the factor requirements for spliceosome disassembly and the elucidation of its dissociation products using a purified splicing system

(2013) J.-B. Fourmann et al.   GENES & DEVELOPMENT

Retinitis Pigmentosa Mutations ofSNRNP200Enhance Cryptic Splice-Site Recognition

(2013) Zuzana Cvačková et al.   HUMAN MUTATION

Helicase-mediated changes in RNA structure at the single-molecule level

(2013) Sebastian L.B. König et al.   RNA Biology

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

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

Structural Basis of Brr2-Prp8 Interactions and Implications for U5 snRNP Biogenesis and the Spliceosome Active Site

(2013) Thi Hoang Duong Nguyen et al.   STRUCTURE

An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function

(2012) Francesco Lotti et al.   CELL

Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

(2012) Milen Velinov et al.   PLoS One

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

(2012) Tiecheng Liu et al.   PLoS One

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

Splicing of an intervening sequence by protein-free human snRNAs

(2011) Yasaman Jaladat et al.   RNA Biology

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

(2010) Bastian Linder et al.   HUMAN MOLECULAR GENETICS

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

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

Splicing-independent recruitment of U1 snRNP to a transcription unit in living cells

(2010) B. Spiluttini et al.   JOURNAL OF CELL SCIENCE

Role of the snRNAs in spliceosomal active site

(2010) Saba Valadkhan   RNA 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

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

A structural analysis of the group II intron active site and implications for the spliceosome

(2009) K. S. Keating et al.   RNA

Transcriptional expression ofcis-acting andtrans-acting splicing mutations cause autosomal dominant retinitis pigmentosa

(2008) María José Gamundi et al.   HUMAN MUTATION

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