Crossref
journal-article
Elsevier BV
Neuron (78)
References
100
Referenced
219
10.1038/ng0493-283
/ Nat. Genet. / The structural and functional diversity of dystrophin by Ahn (1993)10.1016/j.bbadis.2004.08.010
/ Biochim. Biophys. Acta. / Tau gene alternative splicing: expression patterns, regulation and modulation of function in normal brain and neurodegenerative diseases by Andreadis (2005)10.1093/hmg/9.2.237
/ Hum. Mol. Genet. / Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1 by Ars (2000)10.1074/jbc.M109633200
/ J. Biol. Chem. / Mammalian, yeast, bacterial, and chemical chaperones reduce aggregate formation and death in a cell model of oculopharyngeal muscular dystrophy by Bao (2002)10.1016/S0960-8966(03)00169-X
/ Neuromuscul. Disord. / Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene by Beroud (2004)10.1007/s10038-004-0145-4
/ J. Hum. Genet. / The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene by Bhalla (2004)10.1146/annurev.biochem.72.121801.161720
/ Annu. Rev. Biochem. / Mechanisms of alternative pre-messenger RNA splicing by Black (2003)10.1007/978-3-662-09728-1_7
/ Prog. Mol. Subcell. Biol. / Alternative pre-mRNA splicing and neuronal function by Black (2003)10.1016/j.cell.2006.06.023
/ Cell / Alternative splicing: new insights from global analyses by Blencowe (2006)10.1016/j.neuron.2005.08.026
/ Neuron / A splice code for trans-synaptic cell adhesion mediated by binding of neuroligin 1 to alpha- and beta-neurexins by Boucard (2005)10.1523/JNEUROSCI.3347-05.2006
/ J. Neurosci. / Splice variants of the NR1 subunit differentially induce NMDA receptor-dependent gene expression by Bradley (2006)10.1038/ng0298-164
/ Nat. Genet. / Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy by Brais (1998)10.1016/S0165-0173(00)00019-9
/ Brain Res. Brain Res. Rev. / Tau protein isoforms, phosphorylation and role in neurodegenerative disorders by Buee (2000)10.1016/S0168-9525(01)02626-9
/ Trends Genet. / Alternative splicing: multiple control mechanisms and involvement in human disease by Caceres (2002)10.1074/jbc.M512243200
/ J. Biol. Chem. / Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assembly by Carissimi (2006)10.1038/nsb887
/ Nat. Struct. Biol. / Correction of disease-associated exon skipping by synthetic exon-specific activators by Cartegni (2003)10.1038/nrg775
/ Nat. Rev. Genet. / Listening to silence and understanding nonsense: exonic mutations that affect splicing by Cartegni (2002)10.1086/498853
/ Am. J. Hum. Genet. / Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2 by Cartegni (2006)10.1093/hmg/11.1.87
/ Hum. Mol. Genet. / Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa by Chakarova (2002)10.1176/appi.ajp.160.6.1100
/ Am. J. Psychiatry / Altered transcript expression of NMDA receptor-associated postsynaptic proteins in the thalamus of subjects with schizophrenia by Clinton (2003)10.1073/pnas.96.10.5598
/ Proc. Natl. Acad. Sci. USA / Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements by D'Souza (1999)10.1046/j.1460-9568.1999.00486.x
/ Eur. J. Neurosci. / Activity-dependent regulation of alternative splicing patterns in the rat brain by Daoud (1999)10.1093/hmg/ddl015
/ Hum. Mol. Genet. / An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements by Disset (2006)10.1016/j.molmed.2006.01.005
/ Trends Mol. Med. / Spinal muscular atrophy: the RNP connection by Eggert (2006)10.1016/S0092-8674(00)81052-1
/ Cell / Inactivation of NMDA receptors by direct interaction of calmodulin with the NR1 subunit by Ehlers (1996)10.1101/gad.1048803
/ Genes Dev. / Pre-mRNA splicing and human disease by Faustino (2003)10.1038/nature04422
/ Nature / Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1 by Gabellini (2006)10.1111/j.1471-4159.2005.03552.x
/ J. Neurochem. / The alternative splicing of tau exon 10 and its regulatory proteins CLK2 and TRA2-BETA1 changes in sporadic Alzheimer's disease by Glatz (2006)10.1016/j.molcel.2006.05.008
/ Mol. Cell / Comparative analysis identifies exonic splicing regulatory sequences–The complex definition of enhancers and silencers by Goren (2006)10.1016/S0301-0082(01)00007-7
/ Prog. Neurobiol. / Alternative RNA splicing in the nervous system by Grabowski (2001)10.1074/jbc.274.21.15134
/ J. Biol. Chem. / 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 by Grover (1999)10.1016/j.yexcr.2004.03.022
/ Exp. Cell Res. / The SMN complex by Gubitz (2004)10.1086/386296
/ Am. J. Hum. Genet. / The fragile-X premutation: a maturing perspective by Hagerman (2004)10.1371/journal.pbio.0030158
/ PLoS Biol. / A combinatorial code for splicing silencing: UAGG and GGGG motifs by Han (2005)10.1016/S0014-5793(98)01696-2
/ FEBS Lett. / FTDP-17 mutations N279K and S305N in tau produce increased splicing of exon 10 by Hasegawa (1999)10.1038/ng760
/ Nat. Genet. / A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2 by Holmes (2001)10.1038/71709
/ Nat. Genet. / A mouse model for spinal muscular atrophy by Hsieh-Li (2000)10.1016/j.cell.2005.07.033
/ Cell / Common molecular pathways mediate long-term potentiation of synaptic excitation and slow synaptic inhibition by Huang (2005)10.1093/brain/awh650
/ Brain / Protein composition of the intranuclear inclusions of FXTAS by Iwahashi (2006)10.1016/S0896-6273(00)80900-9
/ Neuron / Nova-1 regulates neuron-specific alternative splicing and is essential for neuronal viability by Jensen (2000)10.1093/hmg/ddh327
/ Hum. Mol. Genet. / Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons by Jiang (2004)10.1074/jbc.M301800200
/ J. Biol. Chem. / Mutations in tau gene exon 10 associated with FTDP-17 alter the activity of an exonic splicing enhancer to interact with Tra2 beta by Jiang (2003)10.1016/S0968-0004(03)00033-1
/ Trends Biochem. Sci. / New insights into fragile X syndrome: from molecules to neurobehaviors by Jin (2003)10.1073/pnas.0604970103
/ Proc. Natl. Acad. Sci. USA / Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy by Kanadia (2006)10.1038/ng1207
/ Nat. Genet. / A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy by Kashima (2003)10.1126/science.1118265
/ Science / The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C by Kishore (2006)10.1038/7710
/ Nat. Genet. / An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) by Koob (1999)10.1128/MCB.20.5.1836-1845.2000
/ Mol. Cell. Biol. / The neuron-enriched splicing pattern of Drosophila erect wing is dependent on the presence of ELAV protein by Koushika (2000)10.1007/BF00210743
/ Hum. Genet. / The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences by Krawczak (1992)10.1146/annurev.neuro.24.1.1121
/ Annu. Rev. Neurosci. / Neurodegenerative tauopathies by Lee (2001)10.1016/0092-8674(95)90460-3
/ Cell / Identification and characterization of a spinal muscular atrophy-determining gene by Lefebvre (1995)10.1016/j.bbadis.2005.12.003
/ Biochim. Biophys. Acta / Brain-specific change in alternative splicing of Tau exon 6 in myotonic dystrophy type 1 by Leroy (2006)10.1016/j.cell.2006.03.032
/ Cell / A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration by Lim (2006)10.1016/j.conb.2005.04.002
/ Curr. Opin. Neurobiol. / Neuronal proteins custom designed by alternative splicing by Lipscombe (2005)10.1002/ajmg.b.30235
/ Am. J. Med. Genet. B. Neuropsychiatr. Genet. / Haplotype diversity and somatic instability in normal and expanded SCA8 alleles by Martins (2005)10.1093/hmg/10.15.1555
/ Hum. Mol. Genet. / Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13) by McKie (2001)10.1016/S0168-9525(97)01324-3
/ Trends Genet. / Neurexins: three genes and 1001 products by Missler (1998)10.1016/j.neuron.2005.12.001
/ Neuron / Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease by Monani (2005)10.1093/hmg/9.3.333
/ Hum. Mol. Genet. / The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(−/−) mice and results in a mouse with spinal muscular atrophy by Monani (2000)10.1038/ng1827
/ Nat. Genet. / Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8 by Moseley (2006)10.1016/S0896-6273(03)00676-7
/ Neuron / Activity-dependent mRNA splicing controls ER export and synaptic delivery of NMDA receptors by Mu (2003)10.1146/annurev.neuro.24.1.239
/ Annu. Rev. Neurosci. / Paraneoplastic neurologic disease antigens: RNA-binding proteins and signaling proteins in neuronal degeneration by Musunuru (2001)10.1016/j.tig.2005.07.005
/ Trends Genet. / The splicing machinery is a genetic modifier of disease severity by Nissim-Rafinia (2005)10.1093/hmg/ddg298
/ Hum. Mol. Genet. / A fragile balance: FMR1 expression levels by Oostra (2003)10.1038/ng858
/ Nat. Genet. / A new type of mutation causes a splicing defect in ATM by Pagani (2002)10.1016/S0092-8674(00)81632-3
/ Cell / A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing by Pellizzoni (1998)10.1196/annals.1296.010
/ Ann. N Y Acad. Sci. / From brain to blood: alternative splicing evidence for the cholinergic basis of Mammalian stress responses by Pick (2004)10.1038/6986
/ Nat. Biotechnol. / Spliceosome-mediated RNA trans-splicing as a tool for gene therapy by Puttaraju (1999)10.1146/annurev.neuro.29.051605.113014
/ Annu. Rev. Neurosci. / RNA-mediated neuromuscular disorders by Ranum (2006)10.1086/383590
/ Am. J. Hum. Genet. / Myotonic dystrophy: RNA pathogenesis comes into focus by Ranum (2004)10.1016/j.tig.2004.08.004
/ Trends Genet. / Pathogenic RNA repeats: an expanding role in genetic disease by Ranum (2004)10.1101/gr.473902
/ Genome Res. / Large-scale proteomic analysis of the human spliceosome by Rappsilber (2002)10.1016/j.coi.2004.07.009
/ Curr. Opin. Immunol. / Neuroimmunology of the paraneoplastic neurological degenerations by Roberts (2004)10.1093/hmg/10.19.2143
/ Hum. Mol. Genet. / Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1 by Sergeant (2001)10.1073/pnas.0633863100
/ Proc. Natl. Acad. Sci. USA / Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts by Skordis (2003)10.1101/gad.1106703
/ Genes Dev. / ELAV inhibits 3′-end processing to promote neural splicing of ewg pre-mRNA by Soller (2003)10.1016/j.gene.2004.10.022
/ Gene / Function of alternative splicing by Stamm (2005)10.1152/physrev.2001.81.1.21
/ Physiol. Rev. / Role of alternative splicing in generating isoform diversity among plasma membrane calcium pumps by Strehler (2001)10.1038/371619a0
/ Nature / Ribozyme-mediated repair of defective mRNA by targeted, trans-splicing by Sullenger (1994)10.1016/0092-8674(91)90184-Z
/ Cell / HuD, a paraneoplastic encephalomyelitis antigen, contains RNA-binding domains and is homologous to Elav and Sex-lethal by Szabo (1991)10.1038/sj.ejhg.5200210
/ Eur. J. Hum. Genet. / Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy by Taylor (1998)10.1086/302418
/ Am. J. Hum. Genet. / Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences by Teraoka (1999)10.1002/humu.10214
/ Hum. Mutat. / Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy by Tuffery-Giraud (2003)10.1016/j.conb.2006.01.003
/ Curr. Opin. Neurobiol. / RNA binding proteins and the regulation of neuronal synaptic plasticity by Ule (2006)10.1126/science.1090095
/ Science / CLIP identifies Nova-regulated RNA networks in the brain by Ule (2003)10.1038/ng1610
/ Nat. Genet. / Nova regulates brain-specific splicing to shape the synapse by Ule (2005)10.1038/nature05304
/ Nature / An RNA map predicting Nova-dependent splicing regulation by Ule (2006)10.1128/MCB.25.22.10005-10016.2005
/ Mol. Cell. Biol. / Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals by Underwood (2005)10.1097/00001756-199911260-00036
/ Neuroreport / Ca2+ and pH modulate alternative splicing of exon 5 in NMDA receptor subunit 1 by Vallano (1999)10.1136/jmg 2003.012781
/ J. Med. Genet. / FRG1P is localised in the nucleolus, Cajal bodies, and speckles by van Koningsbruggen (2004)10.1097/00041444-200512000-00006
/ Psychiatr. Genet. / Autism spectrum disorders in Prader-Willi and Angelman syndromes: a systematic review by Veltman (2005)10.1016/S1097-2765(01)00305-7
/ Mol. Cell / A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11) by Vithana (2001)10.1016/j.cell.2004.11.010
/ Cell / Systematic identification and analysis of exonic splicing silencers by Wang (2004)10.1093/hmg/ddg114
/ Hum. Mol. Genet. / The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome by Willemsen (2003)10.1101/gad.342005
/ Genes Dev. / Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy by Winkler (2005)10.1038/35073593
/ Nature / A CaMK IV responsive RNA element mediates depolarization-induced alternative splicing of ion channels by Xie (2001)10.1016/j.cell.2004.11.036
/ Cell / ASF/SF2-regulated CaMKIIdelta alternative splicing temporally reprograms excitation-contraction coupling in cardiac muscle by Xu (2005)10.1186/gb-2004-5-10-r74
/ Genome Biol. / Variation in alternative splicing across human tissues by Yeo (2004)10.1073/pnas.0507856102
/ Proc. Natl. Acad. Sci. USA / Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2 by Young (2005)10.1038/nature01031
/ Nature / Comprehensive proteomic analysis of the human spliceosome by Zhou (2002)
Dates
Type | When |
---|---|
Created | 18 years, 10 months ago (Oct. 5, 2006, 7:48 a.m.) |
Deposited | 6 years, 4 months ago (April 21, 2019, 9:40 a.m.) |
Indexed | 0 minutes ago (Aug. 25, 2025, 3:48 p.m.) |
Issued | 18 years, 10 months ago (Oct. 1, 2006) |
Published | 18 years, 10 months ago (Oct. 1, 2006) |
Published Print | 18 years, 10 months ago (Oct. 1, 2006) |
@article{Licatalosi_2006, title={Splicing Regulation in Neurologic Disease}, volume={52}, ISSN={0896-6273}, url={http://dx.doi.org/10.1016/j.neuron.2006.09.017}, DOI={10.1016/j.neuron.2006.09.017}, number={1}, journal={Neuron}, publisher={Elsevier BV}, author={Licatalosi, Donny D. and Darnell, Robert B.}, year={2006}, month=oct, pages={93–101} }