(Q40741164)

23 September 2017

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. (English)

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23 September 2017

spinal muscular atrophy

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Adrian Robert Krainer

series ordinal

2

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23 September 2017

Luca Cartegni

1

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PubMed ID

11925564

23 September 2017

language of work or name

English

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publication date

4 March 2002

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23 September 2017

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23 September 2017

30

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23 September 2017

377-384

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23 September 2017

4

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https://scigraph.springernature.com/pub.10.1038/ng854

23 September 2017

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cites work

Population frequencies of inherited neuromuscular diseases—A world survey

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7 January 2021

The role of the SMN gene in proximal spinal muscular atrophy

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7 January 2021

Identification and characterization of a spinal muscular atrophy-determining gene

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7 January 2021

The role of SMN in spinal muscular atrophy.

1 reference

7 January 2021

A novel nuclear structure containing the survival of motor neurons protein

1 reference

7 January 2021

A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs

1 reference

7 January 2021

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

1 reference

7 January 2021

A functional interaction between the survival motor neuron complex and RNA polymerase II

1 reference

7 January 2021

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

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7 January 2021

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

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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

Animal models of spinal muscular atrophy

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7 January 2021

Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

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7 January 2021

A mouse model for spinal muscular atrophy

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7 January 2021

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy

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7 January 2021

Regulation of fibronectin EDA exon alternative splicing: possible role of RNA secondary structure for enhancer display.

1 reference

7 January 2021

The role of exon sequences in splice site selection.

1 reference

7 January 2021

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

1 reference

7 January 2021

A systematic analysis of the factors that determine the strength of pre-mRNA splicing enhancers.

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7 January 2021

Polypurine sequences within a downstream exon function as a splicing enhancer

1 reference

7 January 2021

Identification of a new class of exonic splicing enhancers by in vivo selection

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7 January 2021

Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins

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7 January 2021

Selection and characterization of pre-mRNA splicing enhancers: identification of novel SR protein-specific enhancer sequences

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7 January 2021

Exonic splicing enhancer motif recognized by human SC35 under splicing conditions

1 reference

7 January 2021

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

1 reference

7 January 2021

A BRCA1 nonsense mutation causes exon skipping

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7 January 2021

Exon definition may facilitate splice site selection in RNAs with multiple exons

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7 January 2021

Purification and characterization of pre-mRNA splicing factor SF2 from HeLa cells

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7 January 2021

Identification of RNA-protein contacts within functional ribonucleoprotein complexes by RNA site-specific labeling and UV crosslinking

1 reference

7 January 2021

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

7 January 2021

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences

1 reference

7 January 2021

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

1 reference

7 January 2021

A perfect message: RNA surveillance and nonsense-mediated decay

1 reference

7 January 2021

SR proteins are 'locators' of the RNA splicing machinery

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7 January 2021

Switch in 3' splice site recognition between exon definition and splicing catalysis is important for sex-lethal autoregulation.

1 reference

7 January 2021

The role of U5 snRNP in pre-mRNA splicing

1 reference

7 January 2021

Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)

1 reference

7 January 2021

ASF alternative transcripts are highly conserved between mouse and man

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7 January 2021

SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens.

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7 January 2021

Modulation of survival motor neuron pre-mRNA splicing by inhibition of alternative 3' splice site pairing

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7 January 2021

Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients

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7 January 2021

An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA

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7 January 2021

Treatment of spinal muscular atrophy by sodium butyrate

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7 January 2021

Functions of SR proteins in the U12-dependent AT-AC pre-mRNA splicing pathway.

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7 January 2021

Pre-mRNA splicing in the absence of an SR protein RS domain

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7 January 2021

Identifiers

DOI

10.1038/NG854

1 reference

PubMed ID

11925564

Dimensions Publication ID

23 September 2017

0 references

1 reference

PubMed ID

11925564