Specific correction of a splice defect in brain by nutritional supplementation. - Wikidata - wikimedia - TriplyDB

Specific correction of a splice defect in brain by nutritional supplementation.

Specific correction of a splice defect in brain by nutritional supplementation.

http://www.wikidata.org/entity/Q35288257

about

The effect of 6-thioguanine on alternative splicing and antisense-mediated exon skipping treatment for duchenne muscular dystrophy A neo-substrate that amplifies catalytic activity of parkinson's-disease-related kinase PINK1.mRNA transcript diversity creates new opportunities for pharmacological intervention.Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia.Familial Dysautonomia: Mechanisms and Models Long-term oral kinetin does not protect against α-synuclein-induced neurodegeneration in rodent models of Parkinson's disease.MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia.Emerging therapies for idiopathic pulmonary fibrosis, a progressive age-related disease.Genome-wide analysis of familial dysautonomia and kinetin target genes with patient olfactory ecto-mesenchymal stem cells.Emerging therapies for idiopathic pulmonary fibrosis, a progressive age-related disease.Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice.Morpholino Antisense Oligomers as a Potential Therapeutic Option for the Correction of Alternative Splicing in PMD, SPG2, and HEMS.

P2860

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P2860

Specific correction of a splice defect in brain by nutritional supplementation.

http://www.wikidata.org/entity/Q35288257

description

2011 nî lūn-bûn

@nan

2011 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի օգոստոսին հրատարակված գիտական հոդված

@hy

2011年の論文

@ja

2011年論文

@yue

2011年論文

@zh-hant

2011年論文

@zh-hk

2011年論文

@zh-mo

2011年論文

@zh-tw

2011年论文

@wuu

name

Specific correction of a splice defect in brain by nutritional supplementation.

@ast

Specific correction of a splice defect in brain by nutritional supplementation.

@en

type

label

Specific correction of a splice defect in brain by nutritional supplementation.

@ast

Specific correction of a splice defect in brain by nutritional supplementation.

@en

prefLabel

Specific correction of a splice defect in brain by nutritional supplementation.

@ast

Specific correction of a splice defect in brain by nutritional supplementation.

@en

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Human Molecular Genetics

P1476

Specific correction of a splice defect in brain by nutritional supplementation

@en

P2093

Cary S Gallagher

http://www.w3.org/2001/XMLSchema#string

David Kwok

http://www.w3.org/2001/XMLSchema#string

James Mull

http://www.w3.org/2001/XMLSchema#string

James Pickel

http://www.w3.org/2001/XMLSchema#string

Maire Leyne

http://www.w3.org/2001/XMLSchema#string

Matthew M Hims

http://www.w3.org/2001/XMLSchema#string

Ranjit S Shetty

http://www.w3.org/2001/XMLSchema#string

Susan A Slaugenhaupt

http://www.w3.org/2001/XMLSchema#string

P2860

Purification and characterization of the human elongator complex

IKAP is a scaffold protein of the IkappaB kinase complex

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

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

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

Familial dysautonomia is caused by mutations of the IKAP gene.

Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome

Elevated levels of two tRNA species bypass the requirement for elongator complex in transcription and exocytosis.

Identification of the first non-Jewish mutation in familial Dysautonomia

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

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4093-4101

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scholarly article

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10.1093/HMG/DDR333

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21

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20

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21821670

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3188989

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