(Q40186200)

18 September 2017

title

Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia (English)

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18 September 2017

9

James F Gusella

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18 September 2017

8

Sandra Gill

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18 September 2017

3

Maire Leyne

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18 September 2017

7

Ranjit S Shetty

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18 September 2017

Matthew M Hims

1

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18 September 2017

El Chérif Ibrahim

2

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18 September 2017

James Mull

4

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18 September 2017

Lijuan Liu

5

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18 September 2017

Conxi Lazaro

6

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18 September 2017

Robin Reed

10

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18 September 2017

Susan A Slaugenhaupt

11

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18 September 2017

language of work or name

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6 January 2007

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Journal of Molecular Medicine

18 September 2017

published in

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18 September 2017

volume

85

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18 September 2017

issue

2

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18 September 2017

page(s)

149-161

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Identification of a new class of exonic splicing enhancers by in vivo selection

18 September 2017

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00109-006-0137-2

Selection of splice sites in pre-mRNAs with short internal exons

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00109-006-0137-2

The cardiac troponin T alternative exon contains a novel purine-rich positive splicing element

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00109-006-0137-2

Teaching old drugs new tricks. Meeting of the Neurodegeneration Drug Screening Consortium, 7-8 April 2002, Washington, DC, USA

21 January 2018

1 reference

12 December 2020

Selective modification of alternative splicing by indole derivatives that target serine-arginine-rich protein splicing factors

1 reference

12 December 2020

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

1 reference

12 December 2020

Pre-mRNA splicing and human disease

1 reference

12 December 2020

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

1 reference

12 December 2020

A novel specific role for I kappa B kinase complex-associated protein in cytosolic stress signaling.

1 reference

12 December 2020

How prevalent is functional alternative splicing in the human genome?

1 reference

12 December 2020

Kinetin delays the onset of ageing characteristics in human fibroblasts

1 reference

12 December 2020

HOLLYWOOD: a comparative relational database of alternative splicing

1 reference

12 December 2020

Transcription impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia

1 reference

12 December 2020

Incidence of familial dysautonomia in Israel 1977-1981

1 reference

12 December 2020

Predictive identification of exonic splicing enhancers in human genes

1 reference

12 December 2020

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

1 reference

12 December 2020

The alternative splicing of tau exon 10 and its regulatory proteins CLK2 and TRA2-BETA1 changes in sporadic Alzheimer's disease

1 reference

12 December 2020

Familial dysautonomia (a brief review)

1 reference

12 December 2020

Familial dysautonomia is caused by mutations of the IKAP gene

1 reference

12 December 2020

Killing the messenger: new insights into nonsense-mediated mRNA decay

1 reference

12 December 2020

IKAP is a scaffold protein of the IkappaB kinase complex

1 reference

12 December 2020

tRNAGlu wobble uridine methylation by Trm9 identifies Elongator's key role for zymocin-induced cell death in yeast

1 reference

12 December 2020

Alternative splicing in disease and therapy

1 reference

12 December 2020

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia

1 reference

12 December 2020

1 reference

12 December 2020

Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays

1 reference

12 December 2020

Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis.

1 reference

12 December 2020

N(6)-Furfuryladenine, kinetin, protects against Fenton reaction-mediated oxidative damage to DNA

1 reference

12 December 2020

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

12 December 2020

Kinetin inhibits protein oxidation and glycoxidation in vitro

1 reference

12 December 2020

Human myosin V gene produces different transcripts in a cell type-specific manner

1 reference

12 December 2020

Splicing regulators: targets and drugs

1 reference

12 December 2020

Screening for familial dysautonomia in Israel: evidence for higher carrier rate among Polish Ashkenazi Jews

1 reference

12 December 2020

The I kappa B kinase (IKK) complex is tripartite and contains IKK gamma but not IKAP as a regular component.

1 reference

12 December 2020

Elp1p, the yeast homolog of the FD disease syndrome protein, negatively regulates exocytosis independently of transcriptional elongation

1 reference

12 December 2020

Rescue of a human mRNA splicing defect by the plant cytokinin kinetin

1 reference

12 December 2020

1 reference

12 December 2020

Cystic fibrosis patients with the 3272-26A-->G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane.

1 reference

12 December 2020

Comparative analysis detects dependencies among the 5' splice-site positions

1 reference

12 December 2020

Genome-wide detection of alternative splicing in expressed sequences of human genes

1 reference

12 December 2020

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects

1 reference

12 December 2020

Identification of the first non-Jewish mutation in familial Dysautonomia

1 reference

12 December 2020

Purification and characterization of the human elongator complex

1 reference

12 December 2020

A non-EST-based method for exon-skipping prediction

1 reference

12 December 2020

The splicing machinery is a genetic modifier of disease severity

1 reference

12 December 2020

Building specificity with nonspecific RNA-binding proteins

1 reference

12 December 2020

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

1 reference

12 December 2020

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

1 reference

12 December 2020

10.1007/S00109-006-0137-2

Identifiers

DOI

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18 September 2017

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