(Q35304142)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21610752%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21610752%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

spinal muscular atrophy

1 reference

1 reference

Rebeca Martínez-Hernández

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21610752%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Sara Bernal

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21610752%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

author name string

Eva Also-Rallo

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21610752%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Laura Alías

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21610752%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Lidia Caselles

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21610752%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

María J Barceló

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21610752%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Montserrat Baiget

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21610752%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Eduardo F Tizzano

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21610752%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

publication date

25 May 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21610752%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

2 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21610752%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

volume

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21610752%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21610752%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

page(s)

1059-1065

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21610752%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2011.89

2 February 2020

exact match

0 references

cites work

Hydroxyurea enhances SMN2 gene expression through nitric oxide release

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

Randomized, double-blind, placebo-controlled trial of hydroxyurea in spinal muscular atrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

Phase II open label study of valproic acid in spinal muscular atrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

Induced pluripotent stem cells from a spinal muscular atrophy patient

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

A preliminary report on spinal muscular atrophy lymphoblastoid cell lines: are they an appropriate tool for drug screening?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

The role of histone acetylation in SMN gene expression.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

Valproic acid increases SMN levels in spinal muscular atrophy patient cells.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

Deacetylase enzymes: biological functions and the use of small-molecule inhibitors

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

Treatment of spinal muscular atrophy by sodium butyrate

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

Histone deacetylase inhibitors decrease proliferation and modulate cell cycle gene expression in normal mammary epithelial cells.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

G(1) Phase growth arrest and induction of p21(Waf1/Cip1/Sdi1) in IB3-1 cells treated with 4-sodium phenylbutyrate.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

The survival motor neuron protein in spinal muscular atrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

Correlation between severity and SMN protein level in spinal muscular atrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

What's up and down with histone deacetylation and transcription?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

Structure and organization of the human survival motor neurone (SMN) gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

Identification and characterization of a spinal muscular atrophy-determining gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

Prevention of the immunosuppressive effects of glucocorticosteroids by cell-free factors from adjuvant-activated accessory cells.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190259

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.

27 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.89

A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.89

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.89

SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.89

Histone deacetylase inhibitors: from target to clinical trials

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.89

The effect of hydroxyurea in spinal muscular atrophy cells and patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.89

Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.89

Valproic acid-induced deregulation in vitro of genes associated in vivo with neural tube defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.89

Comparison of hypoxia-induced replication arrest with hydroxyurea and aphidicolin-induced arrest

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.89

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

21 January 2018

1 reference

12 December 2020

SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis

1 reference

12 December 2020

Overexpressed human survival motor neurone isoforms, SMNDeltaexon7 and SMN+exon7, both form intranuclear gems but differ in cytoplasmic distribution

1 reference

12 December 2020

Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations

1 reference

12 December 2020

International SMA consortium meeting. (26-28 June 1992, Bonn, Germany)

1 reference

12 December 2020

In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate

1 reference

12 December 2020

The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2011.89

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21610752%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21610752%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

PubMed publication ID

21610752

1 reference