(Q33933841)

30 July 2017

Treatment of spinal muscular atrophy by sodium butyrate (English)

1 reference

30 July 2017

spinal muscular atrophy

1 reference

1 reference

J G Chang

1

1 reference

30 July 2017

H M Hsieh-Li

2

1 reference

30 July 2017

Y J Jong

3

1 reference

30 July 2017

N M Wang

4

1 reference

30 July 2017

C H Tsai

5

1 reference

30 July 2017

H Li

6

1 reference

30 July 2017

language of work or name

English

0 references

publication date

1 August 2001

1 reference

Proceedings of the National Academy of Sciences of the United States of America

30 July 2017

1 reference

30 July 2017

98

1 reference

30 July 2017

9808-9813

1 reference

30 July 2017

17

1 reference

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

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55534

RNA processing and human disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55534

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55534

A mouse model for spinal muscular atrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55534

Determinants of SR protein specificity.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55534

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55534

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55534

The survival motor neuron protein in spinal muscular atrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55534

Correlation between severity and SMN protein level in spinal muscular atrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55534

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55534

Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55534

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55534

SR proteins and splicing control

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55534

Molecular basis of spinal muscular atrophy in Chinese.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55534

Regulation of alternative splicing in vivo by overexpression of antagonistic splicing factors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55534

Identification and characterization of a spinal muscular atrophy-determining gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55534

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55534

The superfamily of arginine/serine-rich splicing factors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55534

Overexpression of the SR proteins ASF/SF2 and SC35 influences alternative splicing in vivo in diverse ways

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55534

Activation of a chicken embryonic globin gene in adult erythroid cells by 5-azacytidine and sodium butyrate

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55534

Pharmacokinetic study of butyric acid administered in vivo as sodium and arginine butyrate salts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55534

Butyric acid modulates developmental globin gene switching in man and sheep.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55534

Butyrate infusions in the ovine fetus delay the biologic clock for globin gene switching

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55534

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55534

Butyric acid, a potent inducer of erythroid differentiation in cultured erythroleukemic cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55534

The effect of sodium butyrate on histone modification

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55534

Sodium butyrate inhibits histone deacetylation in cultured cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55534

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.

5 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.171105098

Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.171105098

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

Analysis of the mRNA transcripts of the survival motor neuron (SMN) gene in the tissue of an SMA fetus and the peripheral blood mononuclear cells of normals, carriers and SMA patients

1 reference

12 December 2020

Differentiation of PC12 pheochromocytoma cells by sodium butyrate

1 reference

12 December 2020

Plasma pharmacokinetics of butyrate after intravenous administration of sodium butyrate or oral administration of tributyrin or sodium butyrate to mice and rats

1 reference

12 December 2020

Spinal muscular atrophy

1 reference

12 December 2020

Oral sodium phenylbutyrate therapy in homozygous beta thalassemia: a clinical trial

1 reference

12 December 2020

Extended therapy with intravenous arginine butyrate in patients with beta-hemoglobinopathies

1 reference

12 December 2020

Induction of gamma-globin by histone deacetylase inhibitors

1 reference

12 December 2020

SMN oligomerization defect correlates with spinal muscular atrophy severity

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.171105098

1 reference

30 July 2017

0 references

1 reference

30 July 2017

1 reference