(Q34186276)

31 July 2017

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title

The splice of life: alternative splicing and neurological disease (English)

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alternative mRNA splicing, via spliceosome

31 July 2017

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Dredge BK

1

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31 July 2017

Polydorides AD

series ordinal

2

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31 July 2017

Darnell RB

series ordinal

3

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31 July 2017

language of work or name

English

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publication date

1 January 2001

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Nature Reviews Neuroscience

31 July 2017

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31 July 2017

2

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31 July 2017

43-50

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31 July 2017

1

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https://scigraph.springernature.com/pub.10.1038/35049061

31 July 2017

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cites work

Identification of functionally distinct isoforms of the N-type Ca2+ channel in rat sympathetic ganglia and brain.

1 reference

Regulated subcellular distribution of the NR1 subunit of the NMDA receptor

21 January 2018

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Ethanol, gamma-aminobutyrate type A receptors, and protein kinase C phosphorylation

21 January 2018

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Pharmacology and functions of metabotropic glutamate receptors

21 January 2018

1 reference

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

21 January 2018

1 reference

Alternative RNA processing in calcitonin gene expression generates mRNAs encoding different polypeptide products

21 January 2018

1 reference

Nova, the paraneoplastic Ri antigen, is homologous to an RNA-binding protein and is specifically expressed in the developing motor system

21 January 2018

1 reference

Nova-1 regulates neuron-specific alternative splicing and is essential for neuronal viability

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17.

21 January 2018

1 reference

Tau is a candidate gene for chromosome 17 frontotemporal dementia

21 January 2018

1 reference

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

21 January 2018

1 reference

Tau mutations in frontotemporal dementia FTDP-17 and their relevance for Alzheimer's disease

21 January 2018

1 reference

Developmentally regulated expression of specific tau sequences

21 January 2018

1 reference

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.

21 January 2018

1 reference

Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17.

21 January 2018

1 reference

Age-Dependent Emergence and Progression of a Tauopathy in Transgenic Mice Overexpressing the Shortest Human Tau Isoform

21 January 2018

1 reference

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

21 January 2018

1 reference

Identification and characterization of a spinal muscular atrophy-determining gene

21 January 2018

1 reference

A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing

21 January 2018

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SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins.

21 January 2018

1 reference

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

21 January 2018

1 reference

Decreased glutamate transport by the brain and spinal cord in amyotrophic lateral sclerosis

21 January 2018

1 reference

Localization of neuronal and glial glutamate transporters

21 January 2018

1 reference

CSF and plasma amino acid levels in motor neuron disease: elevation of CSF glutamate in a subset of patients.

21 January 2018

1 reference

Aberrant RNA processing in a neurodegenerative disease: the cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis

21 January 2018

1 reference

Glutamate transporter EAAT2 splice variants occur not only in ALS, but also in AD and controls

21 January 2018

1 reference

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

21 January 2018

1 reference

Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues

21 January 2018

1 reference

Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts

21 January 2018

1 reference

Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy

21 January 2018

1 reference

Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy

21 January 2018

1 reference

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

21 January 2018

1 reference

The neuronal RNA-binding protein Nova-2 is implicated as the autoantigen targeted in POMA patients with dementia

21 January 2018

1 reference

mRNA silencing in erythroid differentiation: hnRNP K and hnRNP E1 regulate 15-lipoxygenase translation from the 3' end.

21 January 2018

1 reference

A highly conserved RNA-binding protein for cytoplasmic mRNA localization in vertebrates.

21 January 2018

1 reference

Characterization of a beta-actin mRNA zipcode-binding protein

21 January 2018

1 reference

Absence of expression of the FMR-1 gene in fragile X syndrome

21 January 2018

1 reference

A point mutation in the FMR-1 gene associated with fragile X mental retardation

21 January 2018

1 reference

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

21 January 2018

1 reference

Soma-specific expression and cloning of PSI, a negative regulator of P element pre-mRNA splicing

21 January 2018

1 reference

Meiosis-specific RNA splicing in yeast

21 January 2018

1 reference

The neuronal RNA binding protein Nova-1 recognizes specific RNA targets in vitro and in vivo

21 January 2018

1 reference

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

21 January 2018

1 reference

Sequence-specific RNA binding by a Nova KH domain: implications for paraneoplastic disease and the fragile X syndrome

21 January 2018

1 reference

Genetic evidence for a Nova regulator of alternative splicing in the brain

21 January 2018

1 reference

Neuronal antinuclear antibody in sensory neuronopathy from lung cancer.

21 January 2018

1 reference

HuD, a paraneoplastic encephalomyelitis antigen, contains RNA-binding domains and is homologous to Elav and Sex-lethal

21 January 2018

1 reference

Why is Hu where? Shuttling of early-response-gene messenger RNA subsets

21 January 2018

1 reference

The elav gene product of Drosophila, required in neurons, has three RNP consensus motifs.

21 January 2018

1 reference

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

21 January 2018

1 reference

The neuron-enriched splicing pattern of Drosophila erect wing is dependent on the presence of ELAV protein

21 January 2018

1 reference

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

21 January 2018

1 reference

The polypyrimidine tract binding protein binds upstream of neural cell-specific c-src exon N1 to repress the splicing of the intron downstream

21 January 2018

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Conserved intron elements repress splicing of a neuron-specific c-src exon in vitro

21 January 2018

1 reference

Splicing regulation in neurons: tinkering with cell-specific control

21 January 2018

1 reference

hnRNP H is a component of a splicing enhancer complex that activates a c-src alternative exon in neuronal cells

21 January 2018

1 reference

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

21 January 2018

1 reference

Activity-dependent regulation of alternative splicing patterns in the rat brain.

21 January 2018

1 reference

Regulation of NMDA receptor phosphorylation by alternative splicing of the C-terminal domain

21 January 2018

1 reference

Regulation of adenovirus alternative RNA splicing by dephosphorylation of SR proteins

21 January 2018

1 reference

Phosphorylation of the ASF/SF2 RS domain affects both protein-protein and protein-RNA interactions and is necessary for splicing.

21 January 2018

1 reference

The splicing factor-associated protein, p32, regulates RNA splicing by inhibiting ASF/SF2 RNA binding and phosphorylation

21 January 2018

1 reference

Neurexins: three genes and 1001 products

21 January 2018

1 reference

Drosophila Dscam is an axon guidance receptor exhibiting extraordinary molecular diversity

21 January 2018

1 reference

Diversity revealed by a novel family of cadherins expressed in neurons at a synaptic complex

21 January 2018

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A striking organization of a large family of human neural cadherin-like cell adhesion genes

21 January 2018

1 reference

Genomic organization of the family of CNR cadherin genes in mice and humans

21 January 2018

1 reference

Alternative pre-mRNA splicing: the logic of combinatorial control

21 January 2018

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Common themes in the function of transcription and splicing enhancers

21 January 2018

1 reference

Mechanical devices of the spliceosome: motors, clocks, springs, and things

21 January 2018

1 reference

Hu antigens: Reactivity with hu antibodies, tumor expression, and major immunogenic sites

21 January 2018

1 reference

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

21 January 2018

1 reference

Tau proteins with FTDP-17 mutations have a reduced ability to promote microtubule assembly

21 January 2018

1 reference

7 January 2021

A novel nuclear structure containing the survival of motor neurons protein

1 reference

7 January 2021

SMN oligomerization defect correlates with spinal muscular atrophy severity

1 reference

7 January 2021

An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN

1 reference

7 January 2021

Superoxide dismutase and familial amyotrophic lateral sclerosis: new insights into mechanisms and treatments

1 reference

7 January 2021

Genetics of amyotrophic lateral sclerosis

1 reference

7 January 2021

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

1 reference

7 January 2021

Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat

1 reference

7 January 2021

Paraneoplastic neurologic disease antigens: RNA-binding proteins and signaling proteins in neuronal degeneration

1 reference

7 January 2021

A hierarchy of Hu RNA binding proteins in developing and adult neurons.

1 reference

7 January 2021

HuR and mRNA stability

1 reference

7 January 2021

Alternative splicing at the C-terminal but not at the N-terminal domain of the NMDA receptor NR1 is altered in the kindled hippocampus

1 reference

7 January 2021

Identifiers

DOI

10.1038/35049061

1 reference

Dimensions Publication ID

31 July 2017

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