The neurogenetics of alternative splicing

Cytoplasmic Rbfox1 Regulates the Expression of Synaptic and Autism-Related Genes

(2016) Ji-Ann Lee et al.   NEURON

Mechanisms and Regulation of Alternative Pre-mRNA Splicing

(2015) Yeon Lee et al.   Annual Review of Biochemistry

Extending the phenotypic spectrum ofRBFOX1deletions: Sporadic focal epilepsy

(2015) Dennis Lal et al.   EPILEPSIA

Essential roles for the splicing regulator nSR100/SRRM4 during nervous system development

(2015) Mathieu Quesnel-Vallières et al.   GENES & DEVELOPMENT

The end of the message: multiple protein–RNA interactions define the mRNA polyadenylation site

(2015) Yongsheng Shi et al.   GENES & DEVELOPMENT

Alternative Splicing in the Mammalian Nervous System: Recent Insights into Mechanisms and Functional Roles

(2015) Bushra Raj et al.   NEURON

RNA-binding proteins in neurodegeneration: Seq and you shall receive

(2015) Julia K. Nussbacher et al.   TRENDS IN NEUROSCIENCES

MBNL Sequestration by Toxic RNAs and RNA Misprocessing in the Myotonic Dystrophy Brain

(2015) Marianne Goodwin et al.   Cell Reports

Coordination between Translation and Degradation Regulates Inducibility of mGluR-LTD

(2015) Matthew E. Klein et al.   Cell Reports

The splicing regulator PTBP1 controls the activity of the transcription factor Pbx1 during neuronal differentiation

(2015) Anthony J Linares et al.   eLife

Building Robust Transcriptomes with Master Splicing Factors

(2014) Mohini Jangi et al.   CELL

TDP-43 loss of cellular function through aggregation requires additional structural determinants beyond its C-terminal Q/N prion-like domain

(2014) Mauricio Budini et al.   HUMAN MOLECULAR GENETICS

Neuronal cell type–specific alternative splicing is regulated by the KH domain protein SLM1

(2014) Takatoshi Iijima et al.   JOURNAL OF CELL BIOLOGY

Prenatal Deletion of the RNA-Binding Protein HuD Disrupts Postnatal Cortical Circuit Maturation and Behavior

(2014) E. M. DeBoer et al.   JOURNAL OF NEUROSCIENCE

Alternative Splicing Coupled Nonsense-Mediated Decay Generates Neuronal Cell Type-Specific Expression of SLM Proteins

(2014) L. Traunmuller et al.   JOURNAL OF NEUROSCIENCE

Emerging Functions of SRSF1, Splicing Factor and Oncoprotein, in RNA Metabolism and Cancer

(2014) S. Das et al.   MOLECULAR CANCER RESEARCH

A Global Regulatory Mechanism for Activating an Exon Network Required for Neurogenesis

(2014) Bushra Raj et al.   MOLECULAR CELL

A Pair of RNA-Binding Proteins Controls Networks of Splicing Events Contributing to Specialization of Neural Cell Types

(2014) Adam D. Norris et al.   MOLECULAR CELL

Loss of MBNL Leads to Disruption of Developmentally Regulated Alternative Polyadenylation in RNA-Mediated Disease

(2014) Ranjan Batra et al.   MOLECULAR CELL

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

(2014) Janel O Johnson et al.   NATURE NEUROSCIENCE

Context-dependent control of alternative splicing by RNA-binding proteins

(2014) Xiang-Dong Fu et al.   NATURE REVIEWS GENETICS

A day in the life of the spliceosome

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

Partial loss of TDP-43 function causes phenotypes of amyotrophic lateral sclerosis

(2014) C. Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

The splicing regulator PTBP2 controls a program of embryonic splicing required for neuronal maturation

(2014) Qin Li et al.   eLife

Organizing Principles of Mammalian Nonsense-Mediated mRNA Decay

(2013) Maximilian Wei-Lin Popp et al.   Annual Review of Genetics

RNA Protein Interaction in Neurons

(2013) Robert B. Darnell   Annual Review of Neuroscience

Direct Conversion of Fibroblasts to Neurons by Reprogramming PTB-Regulated MicroRNA Circuits

(2013) Yuanchao Xue et al.   CELL

Regulation of gene expression in mammalian nervous system through alternative pre-mRNA splicing coupled with RNA quality control mechanisms

(2013) Karen Yap et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

A compendium of RNA-binding motifs for decoding gene regulation

(2013) Debashish Ray et al.   NATURE

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

(2013) Hong Joo Kim et al.   NATURE

Rbfox proteins regulate alternative mRNA splicing through evolutionarily conserved RNA bridges

(2013) Michael T Lovci et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis

(2013) Shuo-Chien Ling et al.   NEURON

RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

(2013) Dennis Lal et al.   PLoS One

RNA-binding protein Sam68 controls synapse number and local  -actin mRNA metabolism in dendrites

(2013) M. E. Klein 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

Somatic Mutation, Genomic Variation, and Neurological Disease

(2013) A. Poduri et al.   SCIENCE

Alternative pre-mRNA splicing in neurons: growing up and extending its reach

(2013) Sika Zheng et al.   TRENDS IN GENETICS

TDP-43-mediated neurodegeneration: towards a loss-of-function hypothesis?

(2013) Lies Vanden Broeck et al.   TRENDS IN MOLECULAR MEDICINE

FUS-regulated region- and cell-type-specific transcriptome is associated with cell selectivity in ALS/FTLD

(2013) Yusuke Fujioka et al.   Scientific Reports

The Tissue-Specific RNA Binding Protein T-STAR Controls Regional Splicing Patterns of Neurexin Pre-mRNAs in the Brain

(2013) Ingrid Ehrmann et al.   PLoS Genetics

Misregulated RNA processing in amyotrophic lateral sclerosis

(2012) Magdalini Polymenidou et al.   BRAIN RESEARCH

Mutation of a U2 snRNA Gene Causes Global Disruption of Alternative Splicing and Neurodegeneration

(2012) Yichang Jia et al.   CELL

Regulation of eukaryotic gene expression by the untranslated gene regions and other non-coding elements

(2012) Lucy W. Barrett et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

PTB Deficiency Causes the Loss of Adherens Junctions in the Dorsal Telencephalon and Leads to Lethal Hydrocephalus

(2012) Takayuki Shibasaki et al.   CEREBRAL CORTEX

Neuronal regulation of pre-mRNA splicing by polypyrimidine tract binding proteins, PTBP1 and PTBP2

(2012) Niroshika Keppetipola et al.   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

Alternative splicing: decoding an expansive regulatory layer

(2012) Manuel Irimia et al.   CURRENT OPINION IN CELL BIOLOGY

Ptbp2 represses adult-specific splicing to regulate the generation of neuronal precursors in the embryonic brain

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

The splicing regulator Rbfox2 is required for both cerebellar development and mature motor function

(2012) L. T. Gehman et al.   GENES & DEVELOPMENT

Splice-Mediated Motif Switching Regulates Disabled-1 Phosphorylation and SH2 Domain Interactions

(2012) Z. Gao et al.   MOLECULAR AND CELLULAR BIOLOGY

CUG-BP, Elav-like family (CELF)-mediated alternative splicing regulation in the brain during health and disease

(2012) Andrea N. Ladd   MOLECULAR AND CELLULAR NEUROSCIENCE

PSD-95 is post-transcriptionally repressed during early neural development by PTBP1 and PTBP2

(2012) Sika Zheng et al.   NATURE NEUROSCIENCE

Protein–RNA interactions: new genomic technologies and perspectives

(2012) Julian König et al.   NATURE REVIEWS GENETICS

Muscleblind-like 2-Mediated Alternative Splicing in the Developing Brain and Dysregulation in Myotonic Dystrophy

(2012) Konstantinos Charizanis et al.   NEURON

Neuronal Elav-like (Hu) Proteins Regulate RNA Splicing and Abundance to Control Glutamate Levels and Neuronal Excitability

(2012) Gulayse Ince-Dunn et al.   NEURON

Evolutionary Dynamics of Gene and Isoform Regulation in Mammalian Tissues

(2012) J. Merkin et al.   SCIENCE

The Evolutionary Landscape of Alternative Splicing in Vertebrate Species

(2012) N. L. Barbosa-Morais et al.   SCIENCE

TDP-43: gumming up neurons through protein–protein and protein–RNA interactions

(2012) Emanuele Buratti et al.   TRENDS IN BIOCHEMICAL SCIENCES

Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain

(2012) Boris Rogelj et al.   Scientific Reports

A Mutation in the Srrm4 Gene Causes Alternative Splicing Defects and Deafness in the Bronx Waltzer Mouse

(2012) Yoko Nakano et al.   PLoS Genetics

Molecular Pathophysiology of Myelodysplastic Syndromes

(2011) R. Coleman Lindsley et al.   Annual Review of Pathology-Mechanisms of Disease

SAM68 Regulates Neuronal Activity-Dependent Alternative Splicing of Neurexin-1

(2011) Takatoshi Iijima et al.   CELL

Understanding the role of TDP-43 and FUS/TLS in ALS and beyond

(2011) Sandrine Da Cruz et al.   CURRENT OPINION IN NEUROBIOLOGY

Developmental Expression Mapping of a Gene Implicated in Multiple Neurodevelopmental Disorders, A2bp1 (Fox1)

(2011) Elizabeth A.D. Hammock et al.   DEVELOPMENTAL NEUROSCIENCE

HuR function in disease

(2011) Subramanya Srikantan   Frontiers in Bioscience-Landmark

Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8A

(2011) Janelle E. O'Brien et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Cross-Regulation between an Alternative Splicing Activator and a Transcription Repressor Controls Neurogenesis

(2011) Bushra Raj et al.   MOLECULAR CELL

Frequent pathway mutations of splicing machinery in myelodysplasia

(2011) Kenichi Yoshida et al.   NATURE

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

(2011) Irina Voineagu 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

PTBP1 Is Required for Embryonic Development before Gastrulation

(2011) Jakob Suckale et al.   PLoS One

Networking in a global world: Establishing functional connections between neural splicing regulators and their target transcripts

(2011) J. A. Calarco et al.   RNA

FUS Transgenic Rats Develop the Phenotypes of Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration

(2011) Cao Huang et al.   PLoS Genetics

Identification of RNA-protein interaction networks using PAR-CLIP

(2011) Manuel Ascano et al.   Wiley Interdisciplinary Reviews-RNA

Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis

(2010) Brian C. Kraemer et al.   ACTA NEUROPATHOLOGICA

SnapShot: Neuroligin-Neurexin Complexes

(2010) Stéphane Baudouin et al.   CELL

Trans-Synaptic Interaction of GluRδ2 and Neurexin through Cbln1 Mediates Synapse Formation in the Cerebellum

(2010) Takeshi Uemura et al.   CELL

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration

(2010) C. Lagier-Tourenne et al.   HUMAN MOLECULAR GENETICS

Cullin 5 Regulates Cortical Layering by Modulating the Speed and Duration of Dab1-Dependent Neuronal Migration

(2010) S. Simo et al.   JOURNAL OF NEUROSCIENCE

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

(2010) Ian RA Mackenzie et al.   LANCET NEUROLOGY

Asymmetric cell division: recent developments and their implications for tumour biology

(2010) Juergen A. Knoblich   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy

(2010) Hongqing Du et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Nova2 Regulates Neuronal Migration through an RNA Switch in Disabled-1 Signaling

(2010) Masato Yano et al.   NEURON

Developments in RNA Splicing and Disease

(2010) M. G. Poulos et al.   Cold Spring Harbor Perspectives in Biology

Spliceosome Structure and Function

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

HITS-CLIP: panoramic views of protein-RNA regulation in living cells

(2010) Robert B. Darnell   Wiley Interdisciplinary Reviews-RNA

SNAP-25 in Neuropsychiatric Disorders

(2009) Irene Corradini et al.   Annals of the New York Academy of Sciences

Regulation of Vertebrate Nervous System Alternative Splicing and Development by an SR-Related Protein

(2009) John A. Calarco et al.   CELL

The Spliceosome: Design Principles of a Dynamic RNP Machine

(2009) Markus C. Wahl et al.   CELL

Fox-1 family of RNA-binding proteins

(2009) Hidehito Kuroyanagi   CELLULAR AND MOLECULAR LIFE SCIENCES

Polypyrimidine tract-binding protein is essential for early mouse development and embryonic stem cell proliferation

(2009) Masaki Shibayama et al.   FEBS Journal

Current-generation high-throughput sequencing: deepening insights into mammalian transcriptomes

(2009) B. J. Blencowe et al.   GENES & DEVELOPMENT

Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice

(2009) Ligia A. Papale et al.   HUMAN MOLECULAR GENETICS

TDP-43 Is a Developmentally Regulated Protein Essential for Early Embryonic Development

(2009) Chantelle F. Sephton et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

TDP-43 Is Intrinsically Aggregation-prone, and Amyotrophic Lateral Sclerosis-linked Mutations Accelerate Aggregation and Increase Toxicity

(2009) Brian S. Johnson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Auto- and Cross-Regulation of the hnRNP L Proteins by Alternative Splicing

(2009) O. Rossbach et al.   MOLECULAR AND CELLULAR BIOLOGY

Rescuing Z+ agrin splicing in Nova null mice restores synapse formation and unmasks a physiologic defect in motor neuron firing

(2009) M. Ruggiu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity

(2009) Y.-J. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Autoregulation of Fox protein expression to produce dominant negative splicing factors

(2009) A. Damianov et al.   RNA

Motor coordination defects in mice deficient for the Sam68 RNA-binding protein

(2008) Kiven E. Lukong et al.   BEHAVIOURAL BRAIN RESEARCH

Diverse molecular functions of Hu proteins

(2008) M. N. Hinman et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

A Targeted Deleterious Allele of the Splicing Factor SCNM1 in the Mouse

(2008) Viive M. Howell et al.   GENETICS

The Reelin Receptors Apoer2 and Vldlr Coordinate the Patterning of Purkinje Cell Topography in the Developing Mouse Cerebellum

(2008) Matt Larouche et al.   PLoS One

A yeast TDP-43 proteinopathy model: Exploring the molecular determinants of TDP-43 aggregation and cellular toxicity

(2008) B. S. Johnson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

An Ancient Duplication of Exon 5 in the Snap25 Gene Is Required for Complex Neuronal Development/Function

(2008) Jenny U. Johansson et al.   PLoS Genetics