SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site (Q39625401)

13 September 2017

SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site (English)

1 reference

13 September 2017

Brage Storstein Andresen

7

1 reference

13 September 2017

Thomas Koed Doktor

1

1 reference

13 September 2017

Lisbeth Dahl Schroeder

2

1 reference

13 September 2017

Anne Vested

3

1 reference

13 September 2017

Johan Palmfeldt

4

1 reference

13 September 2017

Henriette Skovgaard Andersen

5

1 reference

13 September 2017

Niels Gregersen

6

1 reference

13 September 2017

25 January 2011

1 reference

13 September 2017

1 reference

13 September 2017

32

1 reference

13 September 2017

2

1 reference

13 September 2017

220-230

1 reference

hnRNP A1 binds promiscuously to oligoribonucleotides: utilization of random and homo-oligonucleotides to discriminate sequence from base-specific binding.

13 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Allosteric cascade of spliceosome activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Regulation of SMN protein stability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Recombinant hnRNP protein A1 and its N-terminal domain show preferential affinity for oligodeoxynucleotides homologous to intron/exon acceptor sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Determination of the RNA binding specificity of the heterogeneous nuclear ribonucleoprotein (hnRNP) H/H'/F/2H9 family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Listening to silence and understanding nonsense: exonic mutations that affect splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

ESEfinder: A web resource to identify exonic splicing enhancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

The neurobiology of childhood spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Human Immunodeficiency Virus Type 1 hnRNP A/B-Dependent Exonic Splicing Silencer ESSV Antagonizes Binding of U2AF65 to Viral Polypyrimidine Tracts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

The role of U2AF35 and U2AF65 in enhancer-dependent splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Control of pre-mRNA splicing by the general splicing factors PUF60 and U2AF(65)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

The UCSC Table Browser data retrieval tool

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

An intronic element contributes to splicing repression in spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Characterization of a U2AF-independent commitment complex (E') in the mammalian spliceosome assembly pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Proteomic analysis of rat liver peroxisome: presence of peroxisome-specific isozyme of Lon protease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Identification and characterization of a spinal muscular atrophy-determining gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Correlation between severity and SMN protein level in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Differential 3' splice site recognition of SMN1 and SMN2 transcripts by U2AF and U2 snRNP

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Modulation of exon skipping and inclusion by heterogeneous nuclear ribonucleoprotein A1 and pre-mRNA splicing factor SF2/ASF.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Inhibition of msl-2 splicing by Sex-lethal reveals interaction between U2AF35 and the 3' splice site AG.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Cooperative-binding and splicing-repressive properties of hnRNP A1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

BEDTools: a flexible suite of utilities for comparing genomic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Improved splice site detection in Genie

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

The UCSC Genome Browser database: update 2010

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Comprehensive splice-site analysis using comparative genomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Classification and purification of proteins of heterogeneous nuclear ribonucleoprotein particles by RNA-binding specificities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

The protein factors MBNL1 and U2AF65 bind alternative RNA structures to regulate splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Specific interactions between proteins implicated in splice site selection and regulated alternative splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Cloning and domain structure of the mammalian splicing factor U2AF

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Cloning and intracellular localization of the U2 small nuclear ribonucleoprotein auxiliary factor small subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

Diffusion mechanisms in metallic supercooled liquids and glasses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

7 January 2021

hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

7 January 2021

SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

7 January 2021

Members of the heterogeneous nuclear ribonucleoprotein H family activate splicing of an HIV-1 splicing substrate by promoting formation of ATP-dependent spliceosomal complexes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

7 January 2021

An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

7 January 2021

RNA binding specificity of hnRNP proteins: a subset bind to the 3' end of introns

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21419

7 January 2021

Identifiers

DOI

10.1002/HUMU.21419

1 reference

13 September 2017

1 reference