SF3B1/Hsh155 HEAT motif mutations affect interaction with the spliceosomal ATPase Prp5, resulting in altered branch site selectivity in pre-mRNA splicing

Spliceosomal DEAH-Box ATPases Remodel Pre-mRNA to Activate Alternative Splice Sites

(2016) Daniel R. Semlow et al.   CELL

Molecular Architecture of SF3b and Structural Consequences of Its Cancer-Related Mutations

(2016) Constantin Cretu et al.   MOLECULAR CELL

Cryo-EM structure of the spliceosome immediately after branching

(2016) Wojciech P. Galej et al.   NATURE

Structure of a yeast catalytic step I spliceosome at 3.4 A resolution

(2016) R. Wan et al.   SCIENCE

Molecular architecture of the Saccharomyces cerevisiae activated spliceosome

(2016) R. Rauhut et al.   SCIENCE

Structure of a yeast activated spliceosome at 3.5 A resolution

(2016) C. Yan et al.   SCIENCE

Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage

(2016) Samar Alsafadi et al.   Nature Communications

A novel mechanism for Prp5 function in prespliceosome formation and proofreading the branch site sequence

(2015) Wen-Wei Liang et al.   GENES & DEVELOPMENT

Aberrant RNA splicing in cancer; expression changes and driver mutations of splicing factor genes

(2015) A Sveen et al.   ONCOGENE

Cancer-Associated SF3B1 Hotspot Mutations Induce Cryptic 3′ Splice Site Selection through Use of a Different Branch Point

(2015) Rachel B. Darman et al.   Cell Reports

Transcriptome Sequencing Reveals Potential Mechanism of Cryptic 3’ Splice Site Selection in SF3B1-mutated Cancers

(2015) Christopher DeBoever et al.   PLoS Computational Biology

Rare SF3B1 R625 mutations in cutaneous melanoma

(2014) Yong Kong et al.   MELANOMA RESEARCH

SF3B1 mutations in chronic lymphocytic leukemia

(2013) Y. Wan et al.   BLOOD

Evolution and Impact of Subclonal Mutations in Chronic Lymphocytic Leukemia

(2013) Dan A. Landau et al.   CELL

Distinct patterns of novel gene mutations in poor-prognostic stereotyped subsets of chronic lymphocytic leukemia: the case of SF3B1 and subset #2

(2013) J C Strefford et al.   LEUKEMIA

Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma

(2013) J William Harbour et al.   NATURE GENETICS

Splicing proofreading at 5′ splice sites by ATPase Prp28p

(2013) Fei Yang et al.   NUCLEIC ACIDS RESEARCH

Splicing fidelity

(2013) Prakash Koodathingal et al.   RNA Biology

SF3B1 Mutations Are Associated with Alternative Splicing in Uveal Melanoma

(2013) S. J. Furney et al.   Cancer Discovery

Misregulation of Pre-mRNA Alternative Splicing in Cancer

(2013) J. Zhang et al.   Cancer Discovery

Crystal Structure of Prp5p Reveals Interdomain Interactions that Impact Spliceosome Assembly

(2013) Zhi-Min Zhang et al.   Cell Reports

SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes

(2012) V. Visconte et al.   BLOOD

Whole-genome analysis informs breast cancer response to aromatase inhibition

(2012) Matthew J. Ellis et al.   NATURE

Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes

(2012) Andrew V. Biankin et al.   NATURE

Spliceosome Database: a tool for tracking components of the spliceosome

(2012) Ivan Cvitkovic et al.   NUCLEIC ACIDS RESEARCH

The spliceosome: a flexible, reversible macromolecular machine

(2012) Aaron A. Hoskins et al.   TRENDS IN BIOCHEMICAL SCIENCES

Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms

(2011) L. Malcovati et al.   BLOOD

Mutations of the SF3B1 splicing factor in chronic lymphocytic leukemia: association with progression and fludarabine-refractoriness

(2011) D. Rossi et al.   BLOOD

The Spliceosome as an Indicted Conspirator in Myeloid Malignancies

(2011) Omar Abdel-Wahab et al.   CANCER CELL

A U1-U2 snRNP Interaction Network during Intron Definition

(2011) W. Shao et al.   MOLECULAR AND CELLULAR BIOLOGY

Frequent pathway mutations of splicing machinery in myelodysplasia

(2011) Kenichi Yoshida et al.   NATURE

Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia

(2011) Víctor Quesada et al.   NATURE GENETICS

Spliceosome mutations in hematopoietic malignancies

(2011) Christopher N Hahn et al.   NATURE GENETICS

SomaticSF3B1Mutation in Myelodysplasia with Ring Sideroblasts

(2011) E. Papaemmanuil et al.   NEW ENGLAND JOURNAL OF MEDICINE

SF3B1and Other Novel Cancer Genes in Chronic Lymphocytic Leukemia

(2011) Lili Wang et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Release of SF3 from the intron branchpoint activates the first step of pre-mRNA splicing

(2010) R. M. Lardelli et al.   RNA

A systematic CEN library of the Saccharomyces cerevisiae genome

(2010) Kelli L. Hvorecny et al.   YEAST

Spliceosome Structure and Function

(2010) C. L. Will et al.   Cold Spring Harbor Perspectives in Biology

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

The Spliceosome: Design Principles of a Dynamic RNP Machine

(2009) Markus C. Wahl et al.   CELL

Reconstitution of both steps of Saccharomyces cerevisiae splicing with purified spliceosomal components

(2009) Zbigniew Warkocki et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Alternative splicing and disease

(2008) Jamal Tazi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE