Spinal muscular atrophy: SMN2 pre-mRNA splicing corrected by a U7 snRNA derivative carrying a splicing enhancer sequence (Q28302547)

5

0 references

author name string

Julien Marquis

1

0 references

Kathrin Meyer

2

0 references

Larissa Angehrn

3

0 references

Sacha S Kämpfer

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

4

0 references

language of work or name

English

0 references

publication date

August 2007

0 references

published in

Molecular Therapy

0 references

volume

15

0 references

issue

8

0 references

page(s)

1479-86

0 references

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

Classification of spinal muscular atrophies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

SMN-mediated assembly of RNPs: a complex story

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

The SMN complex, an assemblyosome of ribonucleoproteins

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

Unique Sm core structure of U7 snRNPs: assembly by a specialized SMN complex and the role of a new component, Lsm11, in histone RNA processing

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

A novel nuclear structure containing the survival of motor neurons protein

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

A mouse model for spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

Is spinal muscular atrophy the result of defects in motor neuron processes?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

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/10.1038%2FSJ.MT.6300200

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

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

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

Identification of a cis-acting element for the regulation of SMN exon 7 splicing

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

Correction of disease-associated exon skipping by synthetic exon-specific activators

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

Correction of SMN2 Pre-mRNA splicing by antisense U7 small nuclear RNAs

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

Stimulating full-length SMN2 expression by delivering bifunctional RNAs via a viral vector.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

The special Sm core structure of the U7 snRNP: far-reaching significance of a small nuclear ribonucleoprotein

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

The RNA-binding protein TIA-1 is a novel mammalian splicing regulator acting through intron sequences adjacent to a 5' splice site

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

The survival motor neuron protein in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

Functional analysis of 114 exon-internal AONs for targeted DMD exon skipping: indication for steric hindrance of SR protein binding sites

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

High-level expression of hemoglobin A in human thalassemic erythroid progenitor cells following lentiviral vector delivery of an antisense snRNA.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

Human tra2-beta1 autoregulates its protein concentration by influencing alternative splicing of its pre-mRNA.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

RNAi: the nuts and bolts of the RISC machine

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

Rabies virus glycoprotein pseudotyping of lentiviral vectors enables retrograde axonal transport and access to the nervous system after peripheral delivery

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

Recombinant adeno-associated viral vectors in the nervous system

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

Double-target antisense U7 snRNAs promote efficient skipping of an aberrant exon in three human beta-thalassemic mutations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

Nucleotide sequence homology requirements of HIV-1-specific short hairpin RNA

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

In vivo gene delivery and stable transduction of nondividing cells by a lentiviral vector

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

A lentiviral vector encoding the human Wiskott-Aldrich syndrome protein corrects immune and cytoskeletal defects in WASP knockout mice.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021

Small molecular weight monodisperse nuclear RNA

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300200

7 January 2021