- Home
- Publications
- Publication Search
- Publication Details
Title
RNA mis-splicing in disease
Authors
Keywords
-
Journal
NATURE REVIEWS GENETICS
Volume 17, Issue 1, Pages 19-32
Publisher
Springer Nature
Online
2015-11-23
DOI
10.1038/nrg.2015.3
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Exon skipping therapy for Duchenne muscular dystrophy
- (2015) Ryszard Kole et al. ADVANCED DRUG DELIVERY REVIEWS
- SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts
- (2015) L. Malcovati et al. BLOOD
- Genetic causes of amyotrophic lateral sclerosis: New genetic analysis methodologies entailing new opportunities and challenges
- (2015) Giuseppe Marangi et al. BRAIN RESEARCH
- SRSF2 Mutations Contribute to Myelodysplasia by Mutant-Specific Effects on Exon Recognition
- (2015) Eunhee Kim et al. CANCER CELL
- Mutant U2AF1 Expression Alters Hematopoiesis and Pre-mRNA Splicing In Vivo
- (2015) Cara Lunn Shirai et al. CANCER CELL
- The RNA Binding Protein Quaking Regulates Formation of circRNAs
- (2015) Simon J. Conn et al. CELL
- Lamins: the structure and protein complexes
- (2015) Yosef Gruenbaum et al. CURRENT OPINION IN CELL BIOLOGY
- Motor neuron cell-nonautonomous rescue of spinal muscular atrophy phenotypes in mild and severe transgenic mouse models
- (2015) Yimin Hua et al. GENES & DEVELOPMENT
- Antagonistic regulation of mRNA expression and splicing by CELF and MBNL proteins
- (2015) Eric T. Wang et al. GENOME RESEARCH
- High-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9
- (2015) Gaurav K. Varshney et al. GENOME RESEARCH
- Messenger RNA processing is altered in autosomal dominant leukodystrophy
- (2015) A. Bartoletti-Stella et al. HUMAN MOLECULAR GENETICS
- SRSF2 Is Essential for Hematopoiesis, and Its Myelodysplastic Syndrome-Related Mutations Dysregulate Alternative Pre-mRNA Splicing
- (2015) Yukiko Komeno et al. MOLECULAR AND CELLULAR BIOLOGY
- Functional Splicing Network Reveals Extensive Regulatory Potential of the Core Spliceosomal Machinery
- (2015) Panagiotis Papasaikas et al. MOLECULAR CELL
- Recursive splicing in long vertebrate genes
- (2015) Christopher R. Sibley et al. NATURE
- Genome-wide identification of zero nucleotide recursive splicing in Drosophila
- (2015) Michael O. Duff et al. NATURE
- The spliceosome is a therapeutic vulnerability in MYC-driven cancer
- (2015) Tiffany Y.-T. Hsu et al. NATURE
- SMN2 splice modulators enhance U1–pre-mRNA association and rescue SMA mice
- (2015) James Palacino et al. Nature Chemical Biology
- Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS
- (2015) Mercedes Prudencio et al. NATURE NEUROSCIENCE
- Spinal muscular atrophy—recent therapeutic advances for an old challenge
- (2015) Irene Faravelli et al. Nature Reviews Neurology
- Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum Disorders
- (2015) Sacha B. Nelson et al. NEURON
- Disease-associated mutation inSRSF2misregulates splicing by altering RNA-binding affinities
- (2015) Jian Zhang et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD
- (2015) J. P. Ling et al. SCIENCE
- ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP
- (2015) Shuying Sun et al. Nature Communications
- Systemic Delivery of a Peptide-Linked Morpholino Oligonucleotide Neutralizes Mutant RNA Toxicity in a Mouse Model of Myotonic Dystrophy
- (2015) Andrew J. Leger et al. Nucleic Acid Therapeutics
- Mutations in Pre-mRNA Processing Factors 3, 8, and 31 Cause Dysfunction of the Retinal Pigment Epithelium
- (2014) Michael H. Farkas et al. AMERICAN JOURNAL OF PATHOLOGY
- A Highly Conserved Program of Neuronal Microexons Is Misregulated in Autistic Brains
- (2014) Manuel Irimia et al. CELL
- An integrative analysis of colon cancer identifies an essential function for PRPF6 in tumor growth
- (2014) A. S. Adler et al. GENES & DEVELOPMENT
- U2AF1mutations alter splice site recognition in hematological malignancies
- (2014) Janine O. Ilagan et al. GENOME RESEARCH
- Widespread intron retention in mammals functionally tunes transcriptomes
- (2014) Ulrich Braunschweig et al. GENOME RESEARCH
- PRPF4 mutations cause autosomal dominant retinitis pigmentosa
- (2014) Xue Chen et al. HUMAN MOLECULAR GENETICS
- A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)
- (2014) Natássia M. Vieira et al. HUMAN MOLECULAR GENETICS
- Normal and aberrant splicing ofLMNA
- (2014) Yue-Bei Luo et al. JOURNAL OF MEDICAL GENETICS
- U2AF1 mutations alter sequence specificity of pre-mRNA binding and splicing
- (2014) T Okeyo-Owuor et al. LEUKEMIA
- PRPF8 defects cause missplicing in myeloid malignancies
- (2014) A Kurtovic-Kozaric et al. LEUKEMIA
- How Slow RNA Polymerase II Elongation Favors Alternative Exon Skipping
- (2014) Gwendal Dujardin et al. MOLECULAR CELL
- circRNA Biogenesis Competes with Pre-mRNA Splicing
- (2014) Reut Ashwal-Fluss et al. MOLECULAR CELL
- Space–time wiring specificity supports direction selectivity in the retina
- (2014) Jinseop S. Kim et al. NATURE
- Mass-spectrometry-based draft of the human proteome
- (2014) Mathias Wilhelm et al. NATURE
- Comparative analysis of the transcriptome across distant species
- (2014) Mark B. Gerstein et al. NATURE
- Large-scale genomics unveils the genetic architecture of psychiatric disorders
- (2014) Jacob Gratten et al. NATURE NEUROSCIENCE
- Mapping Argonaute and conventional RNA-binding protein interactions with RNA at single-nucleotide resolution using HITS-CLIP and CIMS analysis
- (2014) Michael J Moore et al. Nature Protocols
- Lomofungin and dilomofungin: inhibitors of MBNL1-CUG RNA binding with distinct cellular effects
- (2014) Jason W. Hoskins et al. NUCLEIC ACIDS RESEARCH
- 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
- Cartography of neurexin alternative splicing mapped by single-molecule long-read mRNA sequencing
- (2014) Barbara Treutlein et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Biochemical defects in minor spliceosome function in the developmental disorder MOPD I
- (2014) F. Jafarifar et al. RNA
- The human splicing code reveals new insights into the genetic determinants of disease
- (2014) H. Y. Xiong et al. SCIENCE
- SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy
- (2014) N. A. Naryshkin et al. SCIENCE
- SMN control of RNP assembly: From post-transcriptional gene regulation to motor neuron disease
- (2014) Darrick K. Li et al. SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
- HITS-CLIP and Integrative Modeling Define the Rbfox Splicing-Regulatory Network Linked to Brain Development and Autism
- (2014) Sebastien M. Weyn-Vanhentenryck et al. Cell Reports
- Splicing factor mutations and cancer
- (2014) Kenichi Yoshida et al. Wiley Interdisciplinary Reviews-RNA
- A Novel CUGexp·MBNL1 Inhibitor with Therapeutic Potential for Myotonic Dystrophy Type 1
- (2013) Amin Haghighat Jahromi et al. ACS Chemical Biology
- Structure of the Myotonic Dystrophy Type 2 RNA and Designed Small Molecules That Reduce Toxicity
- (2013) Jessica L. Childs-Disney et al. ACS Chemical Biology
- The novel MAPT mutation K298E: mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons
- (2013) Mariangela Iovino et al. ACTA NEUROPATHOLOGICA
- Alternative splicing and retinal degeneration
- (2013) M M Liu et al. CLINICAL GENETICS
- Pharmacological prospects in the treatment of Duchenne muscular dystrophy
- (2013) Urs T. Ruegg CURRENT OPINION IN NEUROLOGY
- Enhancement of SMN protein levels in a mouse model of spinal muscular atrophy using novel drug-like compounds
- (2013) Jonathan J. Cherry et al. EMBO Molecular Medicine
- Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)
- (2013) Olena Korvatska et al. HUMAN MOLECULAR GENETICS
- Retinitis Pigmentosa Mutations ofSNRNP200Enhance Cryptic Splice-Site Recognition
- (2013) Zuzana Cvačková et al. HUMAN MUTATION
- The long non-coding RNA Gomafu is acutely regulated in response to neuronal activation and involved in schizophrenia-associated alternative splicing
- (2013) G Barry et al. MOLECULAR PSYCHIATRY
- Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
- (2013) Hong Joo Kim et al. NATURE
- Circular RNAs are a large class of animal RNAs with regulatory potency
- (2013) Sebastian Memczak et al. NATURE
- State of play in amyotrophic lateral sclerosis genetics
- (2013) Alan E Renton et al. NATURE NEUROSCIENCE
- The RNA-binding protein repertoire of embryonic stem cells
- (2013) S Chul Kwon et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis
- (2013) Shuo-Chien Ling et al. NEURON
- U1 small nuclear ribonucleoprotein complex and RNA splicing alterations in Alzheimer's disease
- (2013) B. Bai et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43
- (2013) E. S. Arnold et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- FUS regulates genes coding for RNA-binding proteins in neurons by binding to their highly conserved introns
- (2013) T. Nakaya et al. RNA
- Inhibition of RNA Helicase Brr2 by the C-Terminal Tail of the Spliceosomal Protein Prp8
- (2013) S. Mozaffari-Jovin et al. SCIENCE
- Long noncoding RNAs: fresh perspectives into the RNA world
- (2013) Lin Yang et al. TRENDS IN BIOCHEMICAL SCIENCES
- Induction and reversal of myotonic dystrophy type 1 pre-mRNA splicing defects by small molecules
- (2013) Jessica L. Childs-Disney et al. Nature Communications
- Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic
- (2013) Youn-Bok Lee et al. Cell Reports
- The Cystic Fibrosis Gene: A Molecular Genetic Perspective
- (2013) L.-C. Tsui et al. Cold Spring Harbor Perspectives in Medicine
- Minor introns are embedded molecular switches regulated by highly unstable U6atac snRNA
- (2013) Ihab Younis et al. eLife
- Antisense suppression of donor splice site mutations in the dystrophin gene transcript
- (2013) Sue Fletcher et al. Molecular Genetics & Genomic Medicine
- Tau alternative splicing in familial and sporadic tauopathies
- (2012) Michael Niblock et al. BIOCHEMICAL SOCIETY TRANSACTIONS
- The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease
- (2012) Oliver D. King et al. BRAIN RESEARCH
- Transcriptome-wide Regulation of Pre-mRNA Splicing and mRNA Localization by Muscleblind Proteins
- (2012) Eric T. Wang et al. CELL
- Cell-free Formation of RNA Granules: Low Complexity Sequence Domains Form Dynamic Fibers within Hydrogels
- (2012) Masato Kato et al. CELL
- Cell-free Formation of RNA Granules: Bound RNAs Identify Features and Components of Cellular Assemblies
- (2012) Tina W. Han et al. CELL
- Insights into RNA Biology from an Atlas of Mammalian mRNA-Binding Proteins
- (2012) Alfredo Castello et al. CELL
- Deep sequencing of subcellular RNA fractions shows splicing to be predominantly co-transcriptional in the human genome but inefficient for lncRNAs
- (2012) H. Tilgner et al. GENOME RESEARCH
- Targeting nuclear RNA for in vivo correction of myotonic dystrophy
- (2012) Thurman M. Wheeler et al. NATURE
- RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing
- (2012) Wei Guo et al. NATURE MEDICINE
- Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs
- (2012) Clotilde Lagier-Tourenne et al. NATURE NEUROSCIENCE
- The spliceosome as a target of novel antitumour drugs
- (2012) Sophie Bonnal et al. NATURE REVIEWS DRUG DISCOVERY
- Muscleblind-like 2-Mediated Alternative Splicing in the Developing Brain and Dysregulation in Myotonic Dystrophy
- (2012) Konstantinos Charizanis et al. NEURON
- Dantrolene Enhances Antisense-Mediated Exon Skipping in Human and Mouse Models of Duchenne Muscular Dystrophy
- (2012) G. C. Kendall et al. Science Translational Medicine
- TDP-43: gumming up neurons through protein–protein and protein–RNA interactions
- (2012) Emanuele Buratti et al. TRENDS IN BIOCHEMICAL SCIENCES
- Pre-mRNA splicing in disease and therapeutics
- (2012) Ravi K. Singh et al. TRENDS IN MOLECULAR MEDICINE
- CNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa with Incomplete Penetrance
- (2012) Giulia Venturini et al. PLoS Genetics
- The significant other: splicing by the minor spliceosome
- (2012) Janne J. Turunen et al. Wiley Interdisciplinary Reviews-RNA
- Emerging Roles for Long Non-Coding RNAs in Cancer and Neurological Disorders
- (2012) Courtney N. Niland et al. Frontiers in 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
- A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder
- (2011) Ghada M.H. Abdel-Salam et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- 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
- Frequent pathway mutations of splicing machinery in myelodysplasia
- (2011) Kenichi Yoshida et al. NATURE
- The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain
- (2011) Lauren T Gehman et al. NATURE GENETICS
- Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43
- (2011) Magdalini Polymenidou et al. NATURE NEUROSCIENCE
- Characterizing the RNA targets and position-dependent splicing regulation by TDP-43
- (2011) James R Tollervey et al. NATURE NEUROSCIENCE
- 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
- Splicing-Directed Therapy in a New Mouse Model of Human Accelerated Aging
- (2011) F. G. Osorio et al. Science Translational Medicine
- PINK1-linked parkinsonism is associated with Lewy body pathology
- (2010) Lluís Samaranch et al. BRAIN
- Transcriptome-wide Identification of RNA-Binding Protein and MicroRNA Target Sites by PAR-CLIP
- (2010) Markus Hafner et al. CELL
- Alternative pre-mRNA splicing regulation in cancer: pathways and programs unhinged
- (2010) C. J. David et al. GENES & DEVELOPMENT
- Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center
- (2010) Yasuhiro Takeshima et al. JOURNAL OF HUMAN GENETICS
- Repeat instability as the basis for human diseases and as a potential target for therapy
- (2010) Arturo López Castel et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- iCLIP reveals the function of hnRNP particles in splicing at individual nucleotide resolution
- (2010) Julian König et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- Phagocytosis of Retinal Rod and Cone Photoreceptors
- (2010) Brian M. Kevany et al. PHYSIOLOGY
- Pentamidine reverses the splicing defects associated with myotonic dystrophy
- (2009) M. B. Warf et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
- (2009) L. A. Hindorff et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Reversal of RNA Dominance by Displacement of Protein Sequestered on Triplet Repeat RNA
- (2009) T. M. Wheeler et al. SCIENCE
- Antisense Masking of an hnRNP A1/A2 Intronic Splicing Silencer Corrects SMN2 Splicing in Transgenic Mice
- (2008) Yimin Hua et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Alternative isoform regulation in human tissue transcriptomes
- (2008) Eric T. Wang et al. NATURE
- HITS-CLIP yields genome-wide insights into brain alternative RNA processing
- (2008) Donny D. Licatalosi et al. NATURE
- Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing
- (2008) Qun Pan et al. NATURE GENETICS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreDiscover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversation