JankovicV1, Main, Exploration, bibRecord, 000011

The EIF4G1 gene and Parkinson's disease.

Identifieur interne : 000011 ( Main/Exploration ); précédent : 000010; suivant : 000012

The EIF4G1 gene and Parkinson's disease.

Auteurs : H. Deng [République populaire de Chine] ; Y. Wu [République populaire de Chine] ; Joseph Jankovic [États-Unis]

Source :

Acta neurologica Scandinavica ; 2015.

RBID : pubmed:25765080

English descriptors

KwdEn :
- Eukaryotic Initiation Factor-4G (genetics), Humans, Mutation, Parkinson Disease (genetics).
MESH :
- chemical , genetics : Eukaryotic Initiation Factor-4G.
- genetics : Parkinson Disease.
- Humans, Mutation.

Abstract

Variants in the EIF4G1 gene have been recently identified to be responsible for autosomal dominant PD (PARK18), but its role in the PD-related neurodegeneration is unclear. Several EIF4G1 mutation/variants were found to be associated with PD, and functional studies have suggested that these variants may impair the ability of cells to rapidly and dynamically respond to stress, thus probably participating in the development of PD, and these indicated that EIF4G1 variants may play an important role in pathogenicity of PD, although the frequency is low. Further studies involving large sample size of patients with PD from diverse populations, as well as studies of EIF4G1 expression and in scaffold function, are warranted.

DOI: 10.1111/ane.12397
PubMed: 25765080

Affiliations:

Le document en format XML

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<country xml:lang="fr">République populaire de Chine</country>
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<author><name sortKey="Wu, Y" sort="Wu, Y" uniqKey="Wu Y" first="Y" last="Wu">Y. Wu</name>
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<author><name sortKey="Jankovic, J" sort="Jankovic, J" uniqKey="Jankovic J" first="J" last="Jankovic">Joseph Jankovic</name>
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<wicri:regionArea>Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX</wicri:regionArea>
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<author><name sortKey="Jankovic, J" sort="Jankovic, J" uniqKey="Jankovic J" first="J" last="Jankovic">Joseph Jankovic</name>
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<series><title level="j">Acta neurologica Scandinavica</title>
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<front><div type="abstract" xml:lang="en">Variants in the EIF4G1 gene have been recently identified to be responsible for autosomal dominant PD (PARK18), but its role in the PD-related neurodegeneration is unclear. Several EIF4G1 mutation/variants were found to be associated with PD, and functional studies have suggested that these variants may impair the ability of cells to rapidly and dynamically respond to stress, thus probably participating in the development of PD, and these indicated that EIF4G1 variants may play an important role in pathogenicity of PD, although the frequency is low. Further studies involving large sample size of patients with PD from diverse populations, as well as studies of EIF4G1 expression and in scaffold function, are warranted.</div>
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Serveur d'exploration autour de Joseph Jankovic

The EIF4G1 gene and Parkinson's disease.

The EIF4G1 gene and Parkinson's disease.

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	Serveur d'exploration autour de Joseph Jankovic
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