About: Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : schema:ScholarlyArticle, within Data Space : covidontheweb.inria.fr associated with source document(s)

Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome
Creator	Bian, Yang Ito, Mikako Masuda, Akio Matsuura, Tohru Ohno, Kinji Okushin, Kazuya Engel, Andrew
Source	Medline; PMC
abstract	We recently reported that the intronic splice-site mutation IVS3-8G>A of CHRNA1 that encodes the muscle nicotinic acetylcholine receptor α subunit disrupts binding of a splicing repressor, hnRNP H. This, in turn, results in exclusive inclusion of the downstream exon P3A. The P3A(+) transcript encodes a non-functional α subunit that comprises 50% of the transcripts in normal human skeletal muscle, but its functional significance remains undetermined. In an effort to search for a potential therapy, we screened off-label effects of 960 bioactive chemical compounds and found that tannic acid ameliorates the aberrant splicing due to IVS3-8G>A but without altering the expression of hnRNP H. Therefore, we searched for another splicing trans-factor. We found that the polypyrimidine tract binding protein (PTB) binds close to the 3′ end of CHRNA1 intron 3, that PTB induces skipping of exon P3A and that tannic acid increases the expression of PTB in a dose-dependent manner. Deletion assays of the PTB promoter region revealed that the tannic acid-responsive element is between positions −232 and −74 from the translation initiation site. These observations open the door to the discovery of novel therapies based on PTB overexpression and to detecting possible untoward effects of the overexpression.
has issue date	2009-01-15(xsd:dateTime)
bibo:doi	10.1093/hmg/ddp023
bibo:pmid	19147685
has license	bronze-oa
sha1sum (hex)	1b47cb04a54a8bc6912840fa8ea1b0cf5f8084fe
schema:url	https://doi.org/10.1093/hmg/ddp023
resource representing a document's title	Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome
has PubMed Central identifier	PMC2655771
has PubMed identifier	19147685
schema:publication	Human Molecular Genetics
resource representing a document's body	covid:1b47cb04a54a8bc6912840fa8ea1b0cf5f8084fe#body_text
is schema:about of	named entity 'door' named entity 'facilitates' named entity 'binding' named entity 'congenital myasthenic syndrome' named entity 'mutation' named entity 'REMAINS' named entity 'DELETERIOUS' named entity 'INCLUSION' named entity 'POSSIBLE' named entity 'INTRON' named entity 'DISCOVERY' named entity 'FUNCTIONAL' named entity 'DUE TO' named entity 'DETECTING' named entity 'PROTEIN ' named entity 'EFFECTS' named entity 'OPEN' named entity 'RESPONSIVE' named entity 'HUMAN' named entity 'NICOTINIC ACETYLCHOLINE RECEPTOR' named entity 'ITS' named entity 'ELEMENT' named entity 'OVEREXPRESSION' named entity 'POTENTIAL' named entity 'INCREASES' named entity 'END' named entity 'SUBUNIT' named entity 'OBSERVATIONS' named entity 'HNRNP H' named entity 'REVEALED' named entity 'EXON' named entity 'PTB ' named entity 'UNDETERMINED' named entity 'SKELETAL MUSCLE' named entity 'INCLUSION' named entity 'TRANS' named entity 'FOUND' named entity 'CONGENITAL MYASTHENIC SYNDROME' named entity 'POLYPYRIMIDINE TRACT BINDING PROTEIN' named entity 'DISRUPTING' named entity 'CHRNA1' named entity 'SKIPPING' named entity 'RESULTS' named entity 'RECENTLY' named entity 'OFF-LABEL' named entity 'AMELIORATES' named entity 'REPRESSOR' named entity 'THERAPY' named entity 'REPORTED' named entity 'SEARCH' named entity 'THERAPIES' named entity 'DOOR' named entity 'INTRONIC' named entity 'CHEMICAL COMPOUNDS' named entity 'NORMAL' named entity 'TRANSLATION INITIATION SITE' named entity 'BASED' named entity 'POSITIONS' named entity 'NON-FUNCTIONAL' named entity '960' named entity 'CHRNA1' named entity 'BINDING' named entity 'NOVEL' named entity 'THESE' named entity 'TURN' named entity 'TANNIC ACID' named entity 'EXPRESSION' named entity 'PROTEIN ' named entity 'EXON' named entity 'P3A' named entity 'MUTATION' named entity 'HNRNP H' named entity 'TRANSCRIPT' named entity 'DISRUPTS' named entity 'POLYPYRIMIDINE TRACT BINDING PROTEIN'

Faceted Search & Find service v1.13.91 as of Mar 24 2020

Alternative Linked Data Documents: Sponger | ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3229 as of Jul 10 2020, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (94 GB total memory)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software