A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2. (Q34341178)

1 August 2017

A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2. (English)

1 reference

1 August 2017

spinal muscular atrophy

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Michelle L Hastings

4

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author name string

Francine M Jodelka

series ordinal

1

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1 August 2017

Allison D Ebert

series ordinal

2

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1 August 2017

Dominik M Duelli

series ordinal

3

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1 August 2017

language of work or name

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30 September 2010

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1 August 2017

Human Molecular Genetics

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1 August 2017

19

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1 August 2017

24

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1 August 2017

4906-4917

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Creative Commons Attribution-NonCommercial 2.5 Generic

1 August 2017

start time

3 October 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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describes a project that uses

ImageQuant

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2989896/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Specific splicing defects in S. pombe carrying a degron allele of the Survival of Motor Neuron gene

1 reference

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

6 July 2018

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Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy

6 July 2018

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Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy

6 July 2018

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An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy

6 July 2018

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Intron 7 conserved sequence elements regulate the splicing of the SMN genes

6 July 2018

1 reference

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Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

6 July 2018

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A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy

6 July 2018

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A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice

6 July 2018

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The role of RNP biogenesis in spinal muscular atrophy

6 July 2018

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

6 July 2018

1 reference

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The spliceosome: design principles of a dynamic RNP machine

6 July 2018

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Recognition of atypical 5' splice sites by shifted base-pairing to U1 snRNA.

6 July 2018

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Induced pluripotent stem cells from a spinal muscular atrophy patient

6 July 2018

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An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs

6 July 2018

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The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene

6 July 2018

1 reference

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SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing

6 July 2018

1 reference

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

Deciphering the assembly pathway of Sm-class U snRNPs

6 July 2018

1 reference

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Relative quantification of mRNA: comparison of methods currently used for real-time PCR data analysis

6 July 2018

1 reference

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Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing.

6 July 2018

1 reference

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Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs

6 July 2018

1 reference

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Refined characterization of the expression and stability of the SMN gene products.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

Evolving concepts on human SMN pre-mRNA splicing.

6 July 2018

1 reference

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

Alternative splicing regulation by interaction of phosphatase PP2Cgamma with nucleic acid-binding protein YB-1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

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

6 July 2018

1 reference

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease

6 July 2018

1 reference

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Gemin proteins are required for efficient assembly of Sm-class ribonucleoproteins.

6 July 2018

1 reference

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The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

Determinants of the inherent strength of human 5' splice sites

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

An intronic splicing enhancer element in survival motor neuron (SMN) pre-mRNA.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

The molecular bases of spinal muscular atrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

The SMN complex, an assemblyosome of ribonucleoproteins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

SMN interacts with a novel family of hnRNP and spliceosomal proteins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

Specific sequences of the Sm and Sm-like (Lsm) proteins mediate their interaction with the spinal muscular atrophy disease gene product (SMN).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

A mouse model for spinal muscular atrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

Correlation between severity and SMN protein level in spinal muscular atrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

Initial splice-site recognition and pairing during pre-mRNA splicing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

Mechanisms for selecting 5' splice sites in mammalian pre-mRNA splicing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

Identification and characterization of a spinal muscular atrophy-determining gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

Mapping of B cell epitopes on small nuclear ribonucleoproteins that react with human autoantibodies as well as with experimentally-induced mouse monoclonal antibodies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

Pre-mRNA splicing in vitro requires intact U4/U6 small nuclear ribonucleoprotein

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

U1, U2, and U4/U6 small nuclear ribonucleoproteins are required for in vitro splicing but not polyadenylation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989896

The 5′ terminus of the RNA moiety of U1 small nuclear ribonucleoprotein particles is required for the splicing of messenger RNA precursors

27 October 2018

1 reference

12 December 2020

Site-specific cross-linking of mammalian U5 snRNP to the 5' splice site before the first step of pre-mRNA splicing

1 reference

12 December 2020

Differential SMN2 expression associated with SMA severity

1 reference

12 December 2020

Expression pattern and splicing function of mouse ZNF265

1 reference

12 December 2020

Is good housekeeping the key to motor neuron survival?

1 reference

12 December 2020

A new quantitative method of real time reverse transcription polymerase chain reaction assay based on simulation of polymerase chain reaction kinetics

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDQ425

1 reference

1 August 2017

1 reference

1 August 2017

1 reference