Alternative RNA splicing in the nervous system

Initial sequencing and analysis of the human genome

2001 • 23,520 citations

The Sequence of the Human Genome

2001 • 13,500 citations

Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17

1998 • 3,377 citations

bcl-x, a bcl-2-related gene that functions as a dominant regulator of apoptotic cell death

1993 • 3,111 citations

Why genes in pieces?

1978 • 2,256 citations

The RNA world

1986 • 1,961 citations

hnRNP PROTEINS AND THE BIOGENESIS OF mRNA

1993 • 1,486 citations

Mutation in the tau gene in familial multiple system tauopathy with presenile dementia

1998 • 1,440 citations

Differential signal transduction by five splice variants of the PACAP receptor

1993 • 1,185 citations

Neuroligin Expressed in Nonneuronal Cells Triggers Presynaptic Development in Contacting Axons

2000 • 1,176 citations

Mechanical Devices of the Spliceosome: Motors, Clocks, Springs, and Things

1998 • 1,121 citations

Molecular Diversity of K⁺ Channels

1999 • 1,117 citations

The Neuron-Restrictive Silencer Factor (NRSF): A Coordinate Repressor of Multiple Neuron-Specific Genes

1995 • 1,078 citations

REST: A mammalian silencer protein that restricts sodium channel gene expression to neurons

1995 • 1,078 citations

Exon Recognition in Vertebrate Splicing

1995 • 1,067 citations

Drosophila Dscam Is an Axon Guidance Receptor Exhibiting Extraordinary Molecular Diversity

2000 • 1,067 citations

Correlation between severity and SMN protein level in spinal muscular atrophy

1997 • 1,052 citations

Calcium-activated potassium channels

1998 • 934 citations

Defective Neuromuscular Synaptogenesis in Agrin-Deficient Mutant Mice

1996 • 915 citations

Purification of tau, a microtubule-associated protein that induces assembly of microtubules from purified tubulin

1977 • 878 citations

Overexpression of HuR, a nuclear-cytoplasmic shuttling protein, increases the invivo stability of ARE-containing mRNAs

1998 • 852 citations

Disruption of Splicing Regulated by a CUG-Binding Protein in Myotonic Dystrophy

1998 • 800 citations

A novel nuclear structure containing the survival of motor neurons protein.

1996 • 759 citations

RNA stabilization by the AU-rich element binding protein, HuR, an ELAV protein

1998 • 738 citations

The survival motor neuron protein in spinal muscular atrophy

1997 • 697 citations

Alternative splicing directs the expression of two D2 dopamine receptor isoforms

1989 • 692 citations

Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases

2000 • 689 citations

THE STRUCTURE AND FUNCTION OF PROTEINS INVOLVED IN MAMMALIAN PRE-mRNA SPLICING

1996 • 687 citations

SR proteins and splicing control.

1996 • 668 citations

Aberrant RNA Processing in a Neurodegenerative Disease: the Cause for Absent EAAT2, a Glutamate Transporter, in Amyotrophic Lateral Sclerosis

1998 • 663 citations

The SMN–SIP1 Complex Has an Essential Role in Spliceosomal snRNP Biogenesis

1997 • 650 citations

ALTERNATIVE SPLICING OF PRE-mRNA: Developmental Consequences and Mechanisms of Regulation

1998 • 644 citations

The Spinal Muscular Atrophy Disease Gene Product, SMN, and Its Associated Protein SIP1 Are in a Complex with Spliceosomal snRNP Proteins

1997 • 636 citations

Neuroligin 1: A splice site-specific ligand for β-neurexins

1995 • 635 citations

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1983 • 627 citations

Protein–protein interactions and 5'-splice-site recognition in mammalian mRNA precursors

1994 • 622 citations

The dopamine D2 receptor: two molecular forms generated by alternative splicing.

1989 • 596 citations

Protein Diversity from Alternative Splicing

2000 • 548 citations

20 Splicing of Precursors to mRNAs by the Spliceosomes

1999 • 546 citations

A Novel Function for SMN, the Spinal Muscular Atrophy Disease Gene Product, in Pre-mRNA Splicing

1998 • 545 citations

Inactivation of NMDA Receptors by Direct Interaction of Calmodulin with the NR1 Subunit

1996 • 532 citations

Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements

1999 • 506 citations

Cloning of the cDNA and gene for a human D2 dopamine receptor.

1989 • 488 citations

Synaptic Vesicle Endocytosis Impaired by Disruption of Dynamin-SH3 Domain Interactions

1997 • 479 citations

Alternatively spliced isoforms of the NMDARI receptor subunit

1995 • 450 citations

Cartography of neurexins: More than 1000 isoforms generated by alternative splicing and expressed in distinct subsets of neurons

1995 • 446 citations

Splicing of α1A subunit gene generates phenotypic variants of P- and Q-type calcium channels

1999 • 425 citations

The CELF Family of RNA Binding Proteins Is Implicated in Cell-Specific and Developmentally Regulated Alternative Splicing

2001 • 420 citations

Nova-1 Regulates Neuron-Specific Alternative Splicing and Is Essential for Neuronal Viability

2000 • 415 citations

Another mechanism for creating diversity in gamma-aminobutyrate type A receptors: RNA splicing directs expression of two forms of gamma 2 phosphorylation site.

1990 • 415 citations

MECHANISMS OF HAIR CELL TUNING

1999 • 412 citations

Neuronal Expression of Zinc Finger Transcription Factor REST/NRSF/XBR Gene

1998 • 370 citations

Neurexins: Three genes and 1001 products

1998 • 359 citations

A mutant neurofilament subunit causes massive, selective motor neuron death: Implications for the pathogenesis of human motor neuron disease

1994 • 356 citations

What If There Are Only 30,000 Human Genes?

2001 • 339 citations

Regulated tissue-specific expression of antagonistic pre-mRNA splicing factors.

1998 • 334 citations

The Mkk3/6-p38–Signaling Cascade Alters the Subcellular Distribution of Hnrnp A1 and Modulates Alternative Splicing Regulation

2000 • 333 citations

Nuclear bodies: multifaceted subdomains of the interchromatin space

1999 • 330 citations

The quaking gene product necessary in embryogenesis and myelination combines features of RNA binding and signal transduction proteins

1996 • 330 citations

A new regulatory protein, KSRP, mediates exon inclusion through an intronic splicing enhancer.

1997 • 324 citations

Cooperative Assembly of an hnRNP Complex Induced by a Tissue-Specific Homolog of Polypyrimidine Tract Binding Protein

2000 • 312 citations

SRPK2: A Differentially Expressed SR Protein-specific Kinase Involved in Mediating the Interaction and Localization of Pre-mRNA Splicing Factors in Mammalian Cells

1998 • 306 citations

Regulation of GABAA receptor function by protein kinase C phosphorylation

1994 • 304 citations

RNA RECOGNITION BY RNP PROTEINS DURING RNA PROCESSING

1998 • 299 citations

Control of Alternative Splicing of Potassium Channels by Stress Hormones

1998 • 294 citations

5′ Splice Site Mutations in tau Associated with the Inherited Dementia FTDP-17 Affect a Stem-Loop Structure That Regulates Alternative Splicing of Exon 10

1999 • 294 citations

Regulated Subcellular Distribution of the NR1 Subunit of the NMDA Receptor

1995 • 290 citations

The splicing factor U2AF35 mediates critical protein-protein interactions in constitutive and enhancer-dependent splicing.

1996 • 286 citations

More is better: Activators and repressors from the same gene

1992 • 280 citations

The Apoptosis-Promoting Factor TIA-1 Is a Regulator of Alternative Pre-mRNA Splicing

2000 • 277 citations

The Regulation of Splice-Site Selection, and Its Role in Human Disease

1997 • 277 citations

Splice Variant-Specific Interaction of the NMDA Receptor Subunit NR1 with Neuronal Intermediate Filaments

1998 • 275 citations

Onconeural antigens and the paraneoplastic neurologic disorders: at the intersection of cancer, immunity, and the brain.

1996 • 273 citations

The Neuronal RNA Binding Protein Nova-1 Recognizes Specific RNA Targets In Vitro and In Vivo

1997 • 258 citations

The agrin gene codes for a family of basal lamina proteins that differ in function and distribution

1992 • 252 citations

hnRNP H Is a Component of a Splicing Enhancer Complex That Activates a c-srcAlternative Exon in Neuronal Cells

1999 • 247 citations

A CaMK IV responsive RNA element mediates depolarization-induced alternative splicing of ion channels

2001 • 245 citations

ELAV proteins stabilize deadenylated intermediates in a novel in vitro mRNA deadenylation/degradation system

1999 • 244 citations

Differential expression of two fibroblast growth factor-receptor genes is associated with malignant progression in human astrocytomas.

1994 • 243 citations

Amphiphysin II (SH3P9; BIN1), a Member of the Amphiphysin/Rvs Family, Is Concentrated in the Cortical Cytomatrix of Axon Initial Segments and Nodes of Ranvier in Brain and around T Tubules in Skeletal Muscle

1997 • 243 citations

Glutamate transporter gene expression in amyotrophic lateral sclerosis motor cortex

1996 • 237 citations

Alternatively Spliced Isoforms of Nerve- and Muscle-Derived Agrin

1999 • 236 citations

Embryonic Lethal Abnormal Visual RNA-Binding Proteins Involved in Growth, Differentiation, and Posttranscriptional Gene Expression

1997 • 233 citations

A brain-enriched polypyrimidine tract-binding protein antagonizes the ability of Nova to regulate neuron-specific alternative splicing

2000 • 231 citations

Transcriptional regulation by cyclic AMP-responsive factors

2000 • 228 citations

ELAV protein HuA (HuR) can redistribute between nucleus and cytoplasm and is upregulated during serum stimulation and T cell activation

1998 • 227 citations

Selection of splice sites in pre-mRNAs with short internal exons.

1991 • 224 citations

The Polypyrimidine Tract Binding Protein Binds Upstream of Neural Cell-Specific c-src Exon N1 To Repress the Splicing of the Intron Downstream

1997 • 214 citations

A neuron-specific splicing switch mediated by an array of pre-mRNA repressor sites: evidence of a regulatory role for the polypyrimidine tract binding protein and a brain-specific PTB counterpart.

1997 • 213 citations

Ca2+ channel-regulated neuronal gene expression

1998 • 204 citations

Distribution of Ca2+-Activated K+ Channel Isoforms along the Tonotopic Gradient of the Chicken's Cochlea

1997 • 203 citations

ELAV tumor antigen, Hel-N1, increases translation of neurofilament M mRNA and induces formation of neurites in human teratocarcinoma cells

1999 • 203 citations

Post-transcriptional regulation: The dawn of PTB

1997 • 202 citations

Targeted disruption of an essential vertebrate gene: ASF/SF2 is required for cell viability.

1996 • 200 citations

The generally expressed hnRNP F is involved in a neural-specific pre-mRNA splicing event.

1995 • 194 citations

Altered expression of the WT1 Wilms tumor suppressor gene in human breast cancer

1997 • 193 citations

Identification of Functionally Distinct Isoforms of the N-Type Ca2+ Channel in Rat Sympathetic Ganglia and Brain

1997 • 193 citations

Multisite RNA Binding and Release of Polypyrimidine Tract Binding Protein during the Regulation of c-src Neural-Specific Splicing

2000 • 193 citations

Alternative splicing of fibroblast growth factor receptor 2 (FGF-R2) in human prostate cancer

1997 • 191 citations

Control of Alternative Splicing by the Differential Binding of U1 Small Nuclear Ribonucleoprotein Particle

1991 • 191 citations

Mechanism for elimination of a tumor suppressor: Aberrant splicing of a brain-specific exon causes loss of function of Bin1 in melanoma

1999 • 181 citations

Autoimmune response of patients with paraneoplastic cerebellar degeneration to a Purkinje cell cytoplasmic protein antigen

1985 • 172 citations

Alternative Splicing of the Dopamine D2 Receptor Directs Specificity of Coupling to G-proteins

1995 • 172 citations

Differential Distribution of Ca2+-Activated K+ Channel Splice Variants among Hair Cells along the Tonotopic Axis of the Chick Cochlea

1997 • 165 citations

Purification and Properties of HuD, a Neuronal RNA-binding Protein

1996 • 163 citations

ELAV, a Drosophila neuron-specific protein, mediates the generation of an alternatively spliced neural protein isoform

1996 • 163 citations

An Alternative-Exon Database and Its Statistical Analysis

2000 • 162 citations

Neural cell type-specific expression of QKI proteins is altered in quakingviable mutant mice.

1996 • 162 citations

Coupling of signal transduction to alternative pre-mRNA splicing by a composite splice regulator

1998 • 162 citations

Polypyrimidine tract binding protein interacts with sequences involved in alternative splicing of beta-tropomyosin pre-mRNA.

1992 • 157 citations

Alternately Spliced NH2-terminal Immunoglobulin-like Loop I in the Ectodomain of the Fibroblast Growth Factor (FGF) Receptor 1 Lowers Affinity for both Heparin and FGF-1

1995 • 157 citations

Structure of tandem RNA recognition motifs from polypyrimidine tract binding protein reveals novel features of the RRM fold

2000 • 156 citations

Regulation of Kinetic Properties of GluR2 AMPA Receptor Channels by Alternative Splicing

2000 • 152 citations

Neural Cell Type-Specific Expression of QKI Proteins Is Altered inquakingviableMutant Mice

1996 • 150 citations

Does steric interference between splice sites block the splicing of a short c-src neuron-specific exon in non-neuronal cells?

1991 • 146 citations

An Alternatively Spliced C. elegans ced-4 RNA Encodes a Novel Cell Death Inhibitor

1996 • 146 citations

Correlation between kinetics and RNA splicing of alpha-amino-3-hydroxy-5-methylisoxazole-4-propionic acid receptors in neocortical neurons.

1996 • 145 citations

The tetranucleotide UCAY directs the specific recognition of RNA by the Nova K-homology 3 domain

2000 • 145 citations

Regulation of Ich-1 pre-mRNA alternative splicing and apoptosis by mammalian splicing factors

1998 • 144 citations

The Elav-like Proteins Bind to a Conserved Regulatory Element in the 3′-Untranslated Region of GAP-43 mRNA

1997 • 142 citations

A Model System for Activation-Induced Alternative Splicing of CD45 Pre-mRNA in T Cells Implicates Protein Kinase C and Ras

2000 • 141 citations

Functional comparison of the role of gamma subunits in recombinant human gamma-aminobutyric acidA/benzodiazepine receptors.

1993 • 141 citations

Altered ratios of alternatively spliced long and short γ2 subunit mRNAs of the γ-amino butyrate type A receptor in prefrontal cortex of schizophrenics

1998 • 138 citations

RPGR Transcription Studies in Mouse and Human Tissues Reveal a Retina-Specific Isoform That Is Disrupted in a Patient With X-Linked Retinitis Pigmentosa

1999 • 137 citations

ASESORÍAS INNOVADORAS EN RECURSOS HUMANOS PARA LAS PYMES MEDIANTE EL USO DE LA RED DE INTERNET

1969 • 136 citations

Structural Analysis of the Human BIN1 Gene

1997 • 133 citations

Intrinsic U2AF binding is modulated by exon enhancer signals in parallel with changes in splicing activity.

1995 • 133 citations

Alternative Splicing and Programmed Cell Death

1999 • 133 citations

Aberrant Splicing of tau Pre-mRNA Caused by Intronic Mutations Associated with the Inherited Dementia Frontotemporal Dementia with Parkinsonism Linked to Chromosome 17

2000 • 131 citations

Determinants of 4-Repeat Tau Expression

2000 • 129 citations

The RNA of the glutamate transporter EAAT2 is variably spliced in amyotrophic lateral sclerosis and normal individuals

1999 • 128 citations

Control of Fibroblast Growth Factor Receptor Kinase Signal Transduction by Heterodimerization of Combinatorial Splice Variants

1993 • 124 citations

Thymocytes in Thy-1−/− mice show augmented TCR signaling and impaired differentiation

1997 • 123 citations

Neuron-specific alternative RNA processing in transgenic mice expressing a metallothionein-calcitonin fusion gene

1987 • 123 citations

Hel-N1/Hel-N2 proteins are bound to poly(A)+ mRNA in granular RNP structures and are implicated in neuronal differentiation

1996 • 122 citations

RNA splicing: What has phosphorylation got to do with it?

1999 • 118 citations

Neuronal nicotinic acetylcholine receptors: from the gene to the disease

2000 • 117 citations

Coordinate repression of a trio of neuron-specific splicing events by the splicing regulator PTB

1999 • 116 citations

Mutations in the glutamate transporter EAAT2 gene do not cause abnormal EAAT2 transcripts in amyotrophic lateral sclerosis

1998 • 113 citations

Conserved Intron Elements Repress Splicing of a Neuron-Specific c-src Exon In Vitro

1997 • 111 citations

Phosphorylation-dependent Regulation ofN-Methyl-d-aspartate Receptors by Calmodulin

1997 • 109 citations

The role of Ca²⁺‐activated K⁺ channel spliced variants in the tonotopic organization of the turtle cochlea

1999 • 105 citations

A sequence compilation and comparison of exons that are alternatively spliced in neurons

1994 • 105 citations

Genomic organization and expression analysis of the mouse qkI locus qkI gene, exon 1), AF090392(exon 2), AF090393(exon 3), AF090394(exon 4), AF090395(exon 5), AF090396(exon 6), AF090397(exon 7a), AF090398(exon 7b), AF090399(exon 7c), AF090400(exon 8), AF090401(exon 9), AF090402(5kb-A mRNA) AF090403(5kb-B mRNA), AF090404(6kb mRNA), AF091047(7kb-B mRNA).-->

1999 • 101 citations

Developmental Role of Transcription Factor Isoforms Generated by Alternative Splicing

1995 • 99 citations

Alternative Splicing of a Short Cassette Exon in α_1BGenerates Functionally Distinct N-Type Calcium Channels in Central and Peripheral Neurons

1999 • 96 citations

Activity‐dependent regulation of alternative splicing patterns in the rat brain

1999 • 94 citations

Regulation of Alternative Splicing of Protein Kinase Cβ by Insulin

1995 • 90 citations

Antigenic differences between metastatic and nonmetastatic BSp73 rat tumor variants characterized by monoclonal antibodies.

1989 • 83 citations

Conserved Intron Elements Repress Splicing of a Neuron-Specific c-src Exon In Vitro

1995 • 81 citations

Calcium-Activated Potassium Channels in Adrenal Chromaffin Cells

1996 • 80 citations

Control of fibroblast growth factor receptor kinase signal transduction by heterodimerization of combinatorial splice variants.

1993 • 79 citations

Cell-specific regulation of agrin RNA splicing in the chick ciliary ganglion

1994 • 74 citations

Combinatorial control of a neuron-specific exon

1999 • 71 citations

Contrasting Effects of ENU Induced Embryonic Lethal Mutations of thequakingGene

1999 • 69 citations

Detection of mRNAs and alternatively spliced transcripts of dopamine receptors in rat peripheral sensory and sympathetic ganglia

1998 • 64 citations

Polarized regulation of fibronectin secretion and alternative splicing by transforming growth factor

1991 • 63 citations

Change in plasma membrane Ca2+-ATPase splice-variant expression in response to a rise in intracellular Ca2+

1996 • 62 citations

Comparative expression analysis of the genes encoding polypyrimidine tract binding protein (PTB) and its neural homologue (brPTB) in prenatal and postnatal mouse brain

2001 • 61 citations

Neurexins are differentially expressed in the embryonic nervous system of mice

1995 • 58 citations

Genomic organization and expression analysis of the mouse qkI locus

1999 • 55 citations

Developmentally regulated alternative splicing of brain myelin‐associated glycoprotein mRNA is lacking in the quaking mouse

1988 • 55 citations

Elevated concentration of N-CAM VASE isoforms in schizophrenia

2000 • 54 citations

Increased levels of expression of an NMDAR1 splice variant in the superior temporal gyrus in schizophrenia

2000 • 54 citations

Growth factor-inducible alternative splicing of nontransmembrane phosphotyrosine phosphatase PTP-1B pre-mRNA.

1993 • 53 citations

5‐HT₄ Receptors: Cloning and Expression of New Splice Variants

1998 • 51 citations

Developmental Expression and Alternative Splicing of Chick Agrin RNA

1993 • 48 citations

Essential nucleotides direct neuron-specific splicing of gamma 2 pre-mRNA.

1996 • 46 citations

Mice Lacking the Long Splice Variant of the γ2 Subunit of the GABAA Receptor Are More Sensitive to Benzodiazepines

2000 • 46 citations

Selective Regulation of Agrin mRNA Induction and Alternative Splicing in PC12 Cells by Ras-dependent Actions of Nerve Growth Factor

1997 • 36 citations

Differential and Inefficient Splicing of a Broadly Expressed Drosophila erect wing Transcript Results in Tissue-Specific Enrichment of the Vital EWG Protein Isoform

1999 • 35 citations

A novel isoform ratio switch of the polypyrimidine tract binding protein

1999 • 32 citations

Gs Protein‐Coupled Serotonin Receptors: Receptor Isoforms and Functional Differences

1998 • 30 citations

RNP Remodeling With DExH/D Boxes

2001 • 29 citations

Cell- and stage-specific splicing events resolved in specialized neurons of the rat cerebellum.

1996 • 29 citations

Redundant Intronic Repressors Function to Inhibit Fibroblast Growth Factor Receptor-1 α-Exon Recognition in Glioblastoma Cells

1999 • 28 citations

Alternative Splicing of a Neural-Specific Src mRNA (Src+) Is a Rapid and Protein Synthesis-Independent Response to Neural Induction in Xenopus laevis

1993 • 28 citations

A novel isoform ratio switch of the polypyrimidine tract binding protein

1999 • 28 citations

Induction of Long‐Term Potentiation In Vivo Regulates Alternate Splicing to Alter Syntaxin 3 Isoform Expression in Rat Dentate Gyrus

1998 • 26 citations

The tangled biology of tau

1999 • 25 citations

Tropomyosin isoform diversity and neuronal morphogenesis

1998 • 25 citations

Ca2+ and pH modulate alternative splicing of exon 5 in NMDA receptor subunit 1

1999 • 23 citations

Synaptic differentiation: the role of agrin in the formation and maintenance of the neuromuscular junction

1997 • 22 citations

Differential expressions of CD44 variants in tumors affecting the central nervous system

1999 • 17 citations

Overexpression of Agrin Isoforms inXenopusEmbryos Alters the Distribution of Synaptic Acetylcholine Receptors during Development of the Neuromuscular Junction

1999 • 14 citations

Tissue-specific alternative splicing of Shaker potassium channel transcripts results from distinct modes of regulating 3? splice choice

1997 • 12 citations

Site-directed mutagenesis

1984 • 12 citations

The generation of protein isoform diversity by alternative RNA splicing.

1994 • 11 citations

Up-regulation of specific tyrosinase mRNAs in mouse melanomas with the c ^2j gene substituted for the wild-type tyrosinase allele: Utilization in design of syngeneic immunotherapy models

1997 • 8 citations