(Q34508264)

2 August 2017

Allele-specific silencing of mutant Ataxin-7 in SCA7 patient-derived fibroblasts (English)

1 reference

2 August 2017

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667781%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Danielle C. Smith

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667781%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Matthew J. Wood

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667781%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

author name string

Lauren Watson

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667781%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Jacquie Greenberg

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667781%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

publication date

26 March 2014

1 reference

European Journal of Human Genetics

2 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667781%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667781%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667781%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

page(s)

1369-1375

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667781%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2014.39

11 June 2020

exact match

0 references

cites work

Altered chromatin architecture underlies progressive impairment of the heat shock response in mouse models of Huntington disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231408

Inhibition of mutant huntingtin expression by RNA duplex targeting expanded CAG repeats

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231408

Allele-selective inhibition of ataxin-3 (ATX3) expression by antisense oligomers and duplex RNAs

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231408

Allele-selective inhibition of huntingtin expression by switching to an miRNA-like RNAi mechanism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231408

Repeat expansion disease: progress and puzzles in disease pathogenesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231408

Design of RNAi hairpins for mutation-specific silencing of ataxin-7 and correction of a SCA7 phenotype.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231408

Allele-specific silencing of mutant huntingtin and ataxin-3 genes by targeting expanded CAG repeats in mRNAs

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231408

Five siRNAs targeting three SNPs may provide therapy for three-quarters of Huntington's disease patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231408

Allele-specific RNA silencing of mutant ataxin-3 mediates neuroprotection in a rat model of Machado-Joseph disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231408

AAV vector-mediated RNAi of mutant huntingtin expression is neuroprotective in a novel genetic rat model of Huntington's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231408

Therapeutic gene silencing delivered by a chemically modified small interfering RNA against mutant SOD1 slows amyotrophic lateral sclerosis progression

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231408

The functions of UCH-L1 and its relation to neurodegenerative diseases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231408

Transcriptional malfunctioning of heat shock protein gene expression in spinocerebellar ataxias.

7 July 2018

1 reference

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Ubiquitin hydrolase Uch-L1 rescues beta-amyloid-induced decreases in synaptic function and contextual memory

7 July 2018

1 reference

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Transcriptional alterations and chromatin remodeling in polyglutamine diseases.

7 July 2018

1 reference

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Fatality in mice due to oversaturation of cellular microRNA/short hairpin RNA pathways

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231408

New RNAi strategy for selective suppression of a mutant allele in polyglutamine disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231408

The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231408

Decreased expression of Hsp27 and Hsp70 in transformed lymphoblastoid cells from patients with spinocerebellar ataxia type 7.

7 July 2018

1 reference

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Intrastriatal rAAV-mediated delivery of anti-huntingtin shRNAs induces partial reversal of disease progression in R6/1 Huntington's disease transgenic mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231408

A role for both wild-type and expanded ataxin-7 in transcriptional regulation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231408

Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231408

RNA interference improves motor and neuropathological abnormalities in a Huntington's disease mouse model

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231408

UCH-L1 aggresome formation in response to proteasome impairment indicates a role in inclusion formation in Parkinson's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231408

Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231408

Allele-specific silencing of dominant disease genes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231408

Diagnosis of five spinocerebellar ataxia disorders by multiplex amplification and capillary electrophoresis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231408

Intragenic deletion in the gene encoding ubiquitin carboxy-terminal hydrolase in gad mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231408

Gracile axonal dystrophy (GAD), a new neurological mutant in the mouse

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231408

38 Isolation of fibroblasts from patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231408

Antisense RNA sequences modulating the ataxin-1 message: molecular model of gene therapy for spinocerebellar ataxia type 1, a dominant-acting unstable trinucleotide repeat disease

7 July 2018

1 reference

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RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.39

Ataxin-7 expression analysis in controls and spinocerebellar ataxia type 7 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.39

Decreased expression of striatal signaling genes in a mouse model of Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.39

Polyglutamine-expanded ataxin-7 causes cerebellar dysfunction by inducing transcriptional dysregulation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.39

Identification and allele-specific silencing of the mutant huntingtin allele in Huntington's disease patient-derived fibroblasts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.39

A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.39

Inherited polyglutamine spinocerebellar ataxias in South Africa

21 January 2018

3 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231408

27 October 2018

https://api.crossref.org/works/10.1038%2FEJHG.2014.39

21 January 2018

https://api.crossref.org/works/10.1038%2FEJHG.2014.39

inferred from DOI database lookup

7 January 2021

based on heuristic

SCA7 mouse models show selective stabilization of mutant ataxin-7 and similar cellular responses in different neuronal cell types

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.39

Origin of the SCA7 gene mutation in South Africa: implications for molecular diagnostics

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24667781

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2014.39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667781%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

11 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667781%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667781%20AND%20SRC:MED&resulttype=core&format=json