Alternative splicing isoforms in health and disease

Global profiling of Rbm24 bound RNAs uncovers a multi-tasking RNA binding protein

(2018) Yu Lin et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Neuron-enriched RNA-binding Proteins Regulate Pancreatic Beta Cell Function and Survival

(2017) Jonàs Juan-Mateu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

An unexpected role for the transcriptional coactivator isoform NT-PGC-1α in the regulation of mitochondrial respiration in brown adipocytes

(2017) Ji Suk Chang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

CaMKIIδ subtypes differentially regulate infarct formation following ex vivo myocardial ischemia/reperfusion through NF-κB and TNF-α

(2017) Charles B.B. Gray et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Abnormalities in alternative splicing in diabetes: therapeutic targets

(2017) Zodwa Dlamini et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

Splicing regulation and dysregulation of cholinergic genes expressed at the neuromuscular junction

(2017) Kinji Ohno et al.   JOURNAL OF NEUROCHEMISTRY

Identification of SERINC5-001 as the Predominant Spliced Isoform for HIV-1 Restriction

(2017) Xianfeng Zhang et al.   JOURNAL OF VIROLOGY

Alternative splicing as a regulator of development and tissue identity

(2017) Francisco E. Baralle et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Exclusion of alternative exon 33 of CaV1.2 calcium channels in heart is proarrhythmogenic

(2017) Guang Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Selective induction of alternatively spliced FynT isoform by TNF facilitates persistent inflammatory responses in astrocytes

(2017) Chingli Lee et al.   Scientific Reports

The Role of Insulin Receptor Isoforms in Diabetes and Its Metabolic and Vascular Complications

(2017) O. Escribano et al.   Journal of Diabetes Research

MITA/STING and Its Alternative Splicing Isoform MRP Restrict Hepatitis B Virus Replication

(2017) Shuhui Liu et al.   PLoS One

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

(2016) Laura Sánchez-Caballero et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Differential Response to Risperidone in Schizophrenia Patients byKCNH2Genotype and Drug Metabolizer Status

(2016) Juliane Heide et al.   AMERICAN JOURNAL OF PSYCHIATRY

A Loss-of-Function Variant in a Minor Isoform of ANK3 Protects Against Bipolar Disorder and Schizophrenia

(2016) Timothy Hughes et al.   BIOLOGICAL PSYCHIATRY

Faulty splicing and cytoskeleton abnormalities in Huntington's disease

(2016) Marta Fernández-Nogales et al.   BRAIN PATHOLOGY

Critical role of X-box binding protein 1 in NADPH oxidase 4-triggered cardiac hypertrophy is mediated by receptor interacting protein kinase 1

(2016) Li Chen et al.   CELL CYCLE

Alternative splicing and cell survival: from tissue homeostasis to disease

(2016) Maria Paola Paronetto et al.   CELL DEATH AND DIFFERENTIATION

Emerging Role for RBM20 and its Splicing Substrates in Cardiac Function and Heart Failure

(2016) Jipeng Ma et al.   CURRENT PHARMACEUTICAL DESIGN

Therapeutic correction of ApoER2 splicing in Alzheimer's disease mice using antisense oligonucleotides

(2016) A. J. Hinrich et al.   EMBO Molecular Medicine

Alternative splicing directs two IL-20R2 isoforms and is responsible for the incomplete gene knockout via the exon I ablation

(2016) H Zhou et al.   GENES AND IMMUNITY

Peroxisome Proliferator-activated Receptor γ Coactivator-1 α Isoforms Selectively Regulate Multiple Splicing Events on Target Genes

(2016) Vicente Martínez-Redondo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

β-Adrenergic receptor gene expression in HIV-associated neurocognitive impairment and encephalitis: implications for MOR-1K subcellular localization

(2016) Seth M. Dever et al.   JOURNAL OF NEUROVIROLOGY

Functional Dissection of an Alternatively Spliced Herpesvirus Gene by Splice Site Mutagenesis

(2016) Tim Schommartz et al.   JOURNAL OF VIROLOGY

Therapeutic targeting of splicing in cancer

(2016) Stanley Chun-Wei Lee et al.   NATURE MEDICINE

Alternative polyadenylation of mRNA precursors

(2016) Bin Tian et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Rbm24 Regulates Alternative Splicing Switch in Embryonic Stem Cell Cardiac Lineage Differentiation

(2016) Tao Zhang et al.   STEM CELLS

Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy

(2016) Fernande Freyermuth et al.   Nature Communications

Dysregulation of RBFOX2 Is an Early Event in Cardiac Pathogenesis of Diabetes

(2016) Curtis A. Nutter et al.   Cell Reports

Insulin receptor alternative splicing is regulated by insulin signaling and modulates beta cell survival

(2016) Pushkar Malakar et al.   Scientific Reports

Mitochondrial Reprogramming Induced by CaMKII  Mediates Hypertrophy Decompensation

(2015) B. D. Westenbrink et al.   CIRCULATION RESEARCH

Antisense Therapy for Cardiovascular Diseases

(2015) M. Phillips et al.   CURRENT PHARMACEUTICAL DESIGN

The hitchhiker’s guide to PGC-1α isoform structure and biological functions

(2015) Vicente Martínez-Redondo et al.   DIABETOLOGIA

Global variability in gene expression and alternative splicing is modulated by mitochondrial content

(2015) Raul Guantes et al.   GENOME RESEARCH

The role of CaMKII in diabetic heart dysfunction

(2015) Lorna Daniels et al.   HEART FAILURE REVIEWS

Alternatively Spliced Myeloid Differentiation Protein-2 Inhibits TLR4-Mediated Lung Inflammation

(2015) Gantsetseg Tumurkhuu et al.   JOURNAL OF IMMUNOLOGY

Insights into alternative splicing of sarcomeric genes in the heart

(2015) Cornelis J. Weeland et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

An isoform-specific role of FynT tyrosine kinase in Alzheimer's disease

(2015) Chingli Lee et al.   JOURNAL OF NEUROCHEMISTRY

The spliceosome is a therapeutic vulnerability in MYC-driven cancer

(2015) Tiffany Y.-T. Hsu et al.   NATURE

Lower expression level of two RAGE alternative splicing isoforms in Alzheimer’s disease

(2015) Haiyan Zhu et al.   NEUROSCIENCE LETTERS

TCGASpliceSeq a compendium of alternative mRNA splicing in cancer

(2015) Michael Ryan et al.   NUCLEIC ACIDS RESEARCH

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

(2015) A Sveen et al.   ONCOGENE

Exon Organization and Novel Alternative Splicing of Ank3 in Mouse Heart

(2015) Gokay Yamankurt et al.   PLoS One

Inhibitors of CLK Protein Kinases Suppress Cell Growth and Induce Apoptosis by Modulating Pre-mRNA Splicing

(2015) Shinsuke Araki et al.   PLoS One

Intercellular: local and systemic actions of skeletal muscle PGC-1s

(2015) Jorge C. Correia et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Inhibition of vemurafenib-resistant melanoma by interference with pre-mRNA splicing

(2015) Maayan Salton et al.   Nature Communications

Repression of the Central Splicing Regulator RBFox2 Is Functionally Linked to Pressure Overload-Induced Heart Failure

(2015) Chaoliang Wei et al.   Cell Reports

Functional roles of alternative splicing factors in human disease

(2015) Benjamin Cieply et al.   Wiley Interdisciplinary Reviews-RNA

Induction of the calcineurin variant CnAβ1 after myocardial infarction reduces post-infarction ventricular remodelling by promoting infarct vascularization

(2014) Marina M. López-Olañeta et al.   CARDIOVASCULAR RESEARCH

Antisense oligonucleotides in cancer

(2014) Daniela Castanotto et al.   CURRENT OPINION IN ONCOLOGY

Function and Regulation of the Na+-Ca2+Exchanger NCX3 Splice Variants in Brain and Skeletal Muscle

(2014) Lauriane Y. M. Michel et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Unspliced X-box-binding Protein 1 (XBP1) Protects Endothelial Cells from Oxidative Stress through Interaction with Histone Deacetylase 3

(2014) Daniel Martin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Exercise-induced expression of peroxisome proliferator-activated receptor γ coactivator-1α isoforms in skeletal muscle of endurance-trained males

(2014) Daniil V. Popov et al.   Journal of Physiological Sciences

The alternative splicing of the apolipoprotein E gene is unperturbed in the brains of Alzheimer’s disease patients

(2014) James D. Mills et al.   MOLECULAR BIOLOGY REPORTS

Nova1 is a master regulator of alternative splicing in pancreatic beta cells

(2014) Olatz Villate et al.   NUCLEIC ACIDS RESEARCH

New insights into IGF-1 signaling in the heart

(2014) Rodrigo Troncoso et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Alternative splicing isoform in succinate dehydrogenase complex, subunit C causes downregulation of succinate-coenzyme Q oxidoreductase activity in mitochondria

(2014) NANA SATOH et al.   Oncology Letters

Alternative splicing regulates vesicular trafficking genes in cardiomyocytes during postnatal heart development

(2014) Jimena Giudice et al.   Nature Communications

Alternative Splice Forms of CTLA-4 Induced by Antisense Mediated Splice-Switching Influences Autoimmune Diabetes Susceptibility in NOD Mice

(2014) Dan V. Mourich et al.   Nucleic Acid Therapeutics

Involvement of Endocytosis and Alternative Splicing in the Formation of the Pathological Process in the Early Stages of Parkinson’s Disease

(2014) Anelya Kh. Alieva et al.   Biomed Research International

Exon identity crisis: disease-causing mutations that disrupt the splicing code

(2014) Timothy Sterne-Weiler et al.   GENOME BIOLOGY

Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1

(2013) Karim Wahbi et al.   Archives of Cardiovascular Diseases

Vascular Endothelial Cell Growth–Activated XBP1 Splicing in Endothelial Cells Is Crucial for Angiogenesis

(2013) Lingfang Zeng et al.   CIRCULATION

Phase I Pharmacokinetic and Pharmacodynamic Study of the First-in-Class Spliceosome Inhibitor E7107 in Patients with Advanced Solid Tumors

(2013) F. A. L. M. Eskens et al.   CLINICAL CANCER RESEARCH

Alternative splicing of AMPA receptor subunits in the 6-OHDA-lesioned rat model of Parkinson's disease and L-DOPA-induced dyskinesia

(2013) Christopher Kobylecki et al.   EXPERIMENTAL NEUROLOGY

A phase I, open-label, single-arm, dose-escalation study of E7107, a precursor messenger ribonucleic acid (pre-mRNA) splicesome inhibitor administered intravenously on days 1 and 8 every 21 days to patients with solid tumors

(2013) D. S. Hong et al.   INVESTIGATIONAL NEW DRUGS

The SLC2 (GLUT) family of membrane transporters

(2013) Mike Mueckler et al.   MOLECULAR ASPECTS OF MEDICINE

The Alternative Heart: Impact of Alternative Splicing in Heart Disease

(2013) Enrique Lara-Pezzi et al.   Journal of Cardiovascular Translational Research

Misregulation of Pre-mRNA Alternative Splicing in Cancer

(2013) J. Zhang et al.   Cancer Discovery

RNA-binding protein RBM24 is required for sarcomere assembly and heart contractility

(2012) Kar Lai Poon et al.   CARDIOVASCULAR RESEARCH

A PGC-1α Isoform Induced by Resistance Training Regulates Skeletal Muscle Hypertrophy

(2012) Jorge L. Ruas et al.   CELL

Natural production and functional effects of alternatively spliced interleukin-4 protein in asthma

(2012) Irina G. Luzina et al.   CYTOKINE

NT-PGC-1α Protein Is Sufficient to Link β3-Adrenergic Receptor Activation to Transcriptional and Physiological Components of Adaptive Thermogenesis

(2012) Ji Suk Chang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Leucine-rich repeat kinase 2 and alternative splicing in Parkinson's disease

(2012) David A. Elliott et al.   MOVEMENT DISORDERS

Transcriptional Activity of PGC-1αand NT-PGC-1αIs Differentially Regulated by Twist-1 in Brown Fat Metabolism

(2012) Hee-Jin Jun et al.   PPAR Research

mIGF-1/JNK1/SirT1 signaling confers protection against oxidative stress in the heart

(2011) Manlio Vinciguerra et al.   AGING CELL

IGF-1Ea induces vessel formation after injury and mediates bone marrow and heart cross-talk through the expression of specific cytokines

(2011) Maria Paola Santini et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Hallmarks of Cancer: The Next Generation

(2011) Douglas Hanahan et al.   CELL

Role of RBM25/LUC7L3 in Abnormal Cardiac Sodium Channel Splicing Regulation in Human Heart Failure

(2011) Ge Gao et al.   CIRCULATION

Calcineurin Splicing Variant Calcineurin Aβ1 Improves Cardiac Function After Myocardial Infarction Without Inducing Hypertrophy

(2011) Leanne E. Felkin et al.   CIRCULATION

Cyclic AMP-dependent Protein Kinase Regulates the Alternative Splicing of Tau Exon 10

(2011) Jianhua Shi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Exon Arrays Reveal Alternative Splicing Aberrations in Parkinson’s Disease Leukocytes

(2011) Lilach Soreq et al.   Neurodegenerative Diseases

Skeletal Muscle-Specific Expression of PGC-1α-b, an Exercise-Responsive Isoform, Increases Exercise Capacity and Peak Oxygen Uptake

(2011) Miki Tadaishi et al.   PLoS One

Cyclic AMP-Dependent Protein Kinase A Regulates the Alternative Splicing of CaMKIIδ

(2011) Qingqing Gu et al.   PLoS One

Alternative splicing and disease

(2011) Eddo Kim et al.   RNA Biology

EH-myomesin splice isoform is a novel marker for dilated cardiomyopathy

(2010) Roman Schoenauer et al.   BASIC RESEARCH IN CARDIOLOGY

Cytoscape 2.8: new features for data integration and network visualization

(2010) M. E. Smoot et al.   BIOINFORMATICS

Psoriasis and extra domain A fibronectin loops

(2010) J.P. McFadden et al.   BRITISH JOURNAL OF DERMATOLOGY

An Alternative Splicing Network Links Cell-Cycle Control to Apoptosis

(2010) Michael J. Moore et al.   CELL

Molecular and Functional Characterization of a Novel Cardiac-Specific Human Tropomyosin Isoform

(2010) Sudarsan Rajan et al.   CIRCULATION

Heart Failure–Associated Changes in RNA Splicing of Sarcomere Genes

(2010) Sek Won Kong et al.   Circulation-Cardiovascular Genetics

Identification of a Novel Human MD-2 Splice Variant That Negatively Regulates Lipopolysaccharide-Induced TLR4 Signaling

(2010) P. Gray et al.   JOURNAL OF IMMUNOLOGY

X-box binding protein 1 regulates brain natriuretic peptide through a novel AP1/CRE-like element in cardiomyocytes

(2010) Tamaki Sawada et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Alternative splicing and evolution: diversification, exon definition and function

(2010) Hadas Keren et al.   NATURE REVIEWS GENETICS

Decreased alternative splicing of estrogen receptor-α mRNA in the Alzheimer's disease brain

(2010) Tatjana A. Ishunina et al.   NEUROBIOLOGY OF AGING

17A, a novel non-coding RNA, regulates GABA B alternative splicing and signaling in response to inflammatory stimuli and in Alzheimer disease

(2010) Sara Massone et al.   NEUROBIOLOGY OF DISEASE

The expression of HMGA1a is increased in lymphoblastoid cell lines from schizophrenia patients

(2010) Tomomi Morikawa et al.   NEUROCHEMISTRY INTERNATIONAL

Spliceostatin A inhibits spliceosome assembly subsequent to prespliceosome formation

(2010) Gabriel A. Roybal et al.   NUCLEIC ACIDS RESEARCH

SRRM2, a Potential Blood Biomarker Revealing High Alternative Splicing in Parkinson's Disease

(2010) Lina A. Shehadeh et al.   PLoS One

Fine Mapping of Calcineurin (PPP3CA) Gene Reveals Novel Alternative Splicing Patterns, Association of 5′UTR Trinucleotide Repeat With Addiction Vulnerability, and Differential Isoform Expression in Alzheimer's Disease

(2010) Matthew J. Chiocco et al.   SUBSTANCE USE & MISUSE

Identification and characterization of an alternative promoter of the human PGC-1α gene

(2009) Toyo Yoshioka et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy

(2009) T. Arimura et al.   CARDIOVASCULAR RESEARCH

Oxidants induce alternative splicing of α-synuclein: Implications for Parkinson's disease

(2009) Shasi V. Kalivendi et al.   FREE RADICAL BIOLOGY AND MEDICINE

Alternative mRNA Splicing Produces a Novel Biologically Active Short Isoform of PGC-1α

(2009) Yubin Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutations in Ribonucleic Acid Binding Protein Gene Cause Familial Dilated Cardiomyopathy

(2009) Katharine M. Brauch et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

CARDIAC-SPECIFIC OVEREXPRESSION OF INSULIN-LIKE GROWTH FACTOR I (IGF-1) RESCUES lIPOPOLYSACCHARIDE-INDUCED CARDIAC DYSFUNCTION AND ACTIVATION OF STRESS SIGNALING IN MURINE CARDIOMYOCYTES

(2009) Peng Zhao et al.   SHOCK

Alternative splicing and disease

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

Isoform-Specific Increases in Murine Skeletal Muscle Peroxisome Proliferator-Activated Receptor-γ Coactivator-1α (PGC-1α) mRNA in Response to β2-Adrenergic Receptor Activation and Exercise

(2008) Shinji Miura et al.   ENDOCRINOLOGY

Antisense technology for the prevention or the treatment of cardiovascular disease: The next blockbuster?

(2008) Vasilios G Athyros et al.   EXPERT OPINION ON INVESTIGATIONAL DRUGS

Exon organization and novel alternative splicing of the human ANK2 gene: Implications for cardiac function and human cardiac disease

(2008) Shane R. Cunha et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart

(2008) A. Kalsotra et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Splicing regulation: From a parts list of regulatory elements to an integrated splicing code

(2008) Z. Wang et al.   RNA

A General Definition and Nomenclature for Alternative Splicing Events

(2008) Michael Sammeth et al.   PLoS Computational Biology