EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia (Q40629721)

22 September 2017

title

EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia (English)

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22 September 2017

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https://api.crossref.org/works/10.1016/J.BBRC.2003.09.019

16 March 2024

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https://api.crossref.org/works/10.1016/J.BBRC.2003.09.019

16 March 2024

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https://api.crossref.org/works/10.1016/J.BBRC.2003.09.019

16 March 2024

author name string

Jinsong Qiu

2

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22 September 2017

Sylvia L. Anderson

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14521957

16 March 2024

Berish Y. Rubin

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14521957

16 March 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14521957

16 March 2024

publication date

1 October 2003

1 reference

22 September 2017

17 October 2003

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14521957

full work available at URL

16 March 2024

https://api.elsevier.com/content/article/PII:S0006291X03017960?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/J.BBRC.2003.09.019

https://api.elsevier.com/content/article/PII:S0006291X03017960?httpAccept=text/plain

16 March 2024

1 reference

https://api.crossref.org/works/10.1016/J.BBRC.2003.09.019

Biochemical and Biophysical Research Communications

16 March 2024

published in

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22 September 2017

volume

310

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22 September 2017

issue

2

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22 September 2017

page(s)

627-633

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Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases

22 September 2017

cites work

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Familial dysautonomia is caused by mutations of the IKAP gene

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Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

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IKAP is a scaffold protein of the IkappaB kinase complex

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Tocotrienols induce IKBKAP expression: a possible therapy for familial dysautonomia

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Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.

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Identifiers

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22 September 2017

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