RBM24 promotes U1 snRNP recognition of the mutated 5' splice site in the IKBKAP gene of familial dysautonomia (Q36395387)

28592461

13 August 2017

title

RBM24 promotes U1 snRNP recognition of the mutated 5' splice site in the IKBKAP gene of familial dysautonomia (English)

1 reference

13 August 2017

1

1 reference

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13 June 2020

author name string

Mayumi Yoshida

2

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13 June 2020

Akiko Nakano-Kobayashi

3

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13 June 2020

Motoyasu Hosokawa

4

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13 June 2020

Yukiya Sako

5

1 reference

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13 June 2020

Maki Sakuma

6

1 reference

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13 June 2020

Yukiko Okuno

7

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13 June 2020

Tomomi Usui

8

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13 June 2020

Kensuke Ninomiya

9

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13 June 2020

Takayuki Nojima

10

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13 June 2020

Naoyuki Kataoka

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28592461%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Masatoshi Hagiwara

12

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13 June 2020

language of work or name

English

0 references

publication date

7 June 2017

1 reference

13 August 2017

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13 June 2020

volume

23

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13 June 2020

issue

9

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13 June 2020

page(s)

1393-1403

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Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia

13 June 2020

cites work

1 reference

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The pathogenicity of splicing defects: mechanistic insights into pre-mRNA processing inform novel therapeutic approaches

21 September 2018

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Rectifier of aberrant mRNA splicing recovers tRNA modification in familial dysautonomia

21 September 2018

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RBM24 is a major regulator of muscle-specific alternative splicing

21 September 2018

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RBFOX and SUP-12 sandwich a G base to cooperatively regulate tissue-specific splicing

21 September 2018

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The RNA binding protein RBM38 (RNPC1) regulates splicing during late erythroid differentiation

21 September 2018

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Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons

21 September 2018

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Cardiac glycosides correct aberrant splicing of IKBKAP-encoded mRNA in familial dysautonomia derived cells by suppressing expression of SRSF3.

21 September 2018

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Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model

21 September 2018

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Dynamic integration of splicing within gene regulatory pathways

21 September 2018

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Large-scale screening using familial dysautonomia induced pluripotent stem cells identifies compounds that rescue IKBKAP expression

21 September 2018

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Muscle-specific splicing factors ASD-2 and SUP-12 cooperatively switch alternative pre-mRNA processing patterns of the ADF/cofilin gene in Caenorhabditis elegans

21 September 2018

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IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia

21 September 2018

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Loss of exon identity is a common mechanism of human inherited disease

21 September 2018

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21 September 2018

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Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells

21 September 2018

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Visualization and genetic analysis of alternative splicing regulation in vivo using fluorescence reporters in transgenic Caenorhabditis elegans

21 September 2018

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Splicing reporter mice revealed the evolutionally conserved switching mechanism of tissue-specific alternative exon selection

21 September 2018

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HMGA1a trapping of U1 snRNP at an authentic 5' splice site induces aberrant exon skipping in sporadic Alzheimer's disease

21 September 2018

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RNA-binding proteins Rbm38 and Rbm24 regulate myogenic differentiation via p21-dependent and -independent regulatory pathways

21 September 2018

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Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs.

21 September 2018

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21 September 2018

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21 September 2018

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21 September 2018

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21 September 2018

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21 September 2018

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A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect

21 September 2018

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21 September 2018

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21 September 2018

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Cryptic splice site usage in exon 7 of the human fibrinogen Bbeta-chain gene is regulated by a naturally silent SF2/ASF binding site within this exon

21 September 2018

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

21 September 2018

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Tocotrienols induce IKBKAP expression: a possible therapy for familial dysautonomia

21 September 2018

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

21 September 2018

1 reference

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HnRNP L stimulates splicing of the eNOS gene by binding to variable-length CA repeats

21 September 2018

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21 September 2018

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Familial dysautonomia is caused by mutations of the IKAP gene

21 September 2018

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

21 September 2018

1 reference

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21 September 2018

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Pre-mRNA splicing imprints mRNA in the nucleus with a novel RNA-binding protein that persists in the cytoplasm

21 September 2018

1 reference

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hnRNP A/B proteins are required for inhibition of HIV-1 pre-mRNA splicing

21 September 2018

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The mec-8 gene of C. elegans encodes a protein with two RNA recognition motifs and regulates alternative splicing of unc-52 transcripts.

21 September 2018

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Cloning and characterization of PSF, a novel pre-mRNA splicing factor

21 September 2018

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21 September 2018

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Regulation of tissue-specific P-element pre-mRNA splicing requires the RNA-binding protein PSI.

21 September 2018

1 reference

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Multiple factors including the small nuclear ribonucleoproteins U1 and U2 are necessary for pre-mRNA splicing in vitro.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5558909

Electron microscopy of U1 small nuclear ribonucleoprotein particles: shape of the particle and position of the 5' RNA terminus

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5558909

Purification and characterization of pre-mRNA splicing factor SF2 from HeLa cells

21 September 2018

1 reference

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Regulation of alternative pre-mRNA splicing by hnRNP A1 and splicing factor SF2

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5558909

Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28592461

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Downstream utrophin enhancer is required for expression of utrophin in skeletal muscle

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28592461

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1261/RNA.059428.116

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28592461%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28592461%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

28592461

1 reference