The splice of life: alternative splicing and neurological disease (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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Nova-1 regulates neuron-specific alternative splicing and is essential for neuronal viability

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Identification and characterization of a spinal muscular atrophy-determining gene

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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Drosophila Dscam is an axon guidance receptor exhibiting extraordinary molecular diversity

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

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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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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7 January 2021

A novel nuclear structure containing the survival of motor neurons protein

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7 January 2021

SMN oligomerization defect correlates with spinal muscular atrophy severity

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Genetics of amyotrophic lateral sclerosis

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7 January 2021

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

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7 January 2021

Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat

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7 January 2021

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

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7 January 2021

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

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7 January 2021

HuR and mRNA stability

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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

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7 January 2021

Identifiers

DOI

10.1038/35049061

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Dimensions Publication ID

31 July 2017

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