JankovicV1, PubMed, Corpus, bibRecord, 000118

GIGYF2 Asn56Ser and Asn457Thr mutations in Parkinson disease patients.

Identifieur interne : 000118 ( PubMed/Corpus ); précédent : 000117; suivant : 000119

GIGYF2 Asn56Ser and Asn457Thr mutations in Parkinson disease patients.

Auteurs : Yi Guo ; Joseph Jankovic ; Shaihong Zhu ; Weidong Le ; Zhi Song ; Wenjie Xie ; Daoguang Liao ; Huarong Yang ; Hao Deng

Source :

Neuroscience letters ; 2009.

RBID : pubmed:19429085

English descriptors

KwdEn :
- Carrier Proteins (genetics), European Continental Ancestry Group (genetics), Female, Humans, Male, Middle Aged, Mutation, North America, Parkinson Disease (genetics), Polymerase Chain Reaction, Polymorphism, Single-Stranded Conformational.
MESH :
- chemical , genetics : Carrier Proteins.
- geographic : North America.
- genetics : European Continental Ancestry Group, Parkinson Disease.
- Female, Humans, Male, Middle Aged, Mutation, Polymerase Chain Reaction, Polymorphism, Single-Stranded Conformational.

Abstract

Parkinson disease (PD) is one of the most common neurodegenerative disorders with major clinical features of bradykinesia, rigidity, resting tremor, and postural instability. At least thirteen gene loci responsible for PD or parkinsonism have been found and nine causative genes have been identified. Recently, Asn56Ser or Asn457Thr mutations in the Grb10-Interacting GYF Protein-2 gene (GIGYF2) were found to occur in about 2.4% familial PD Italian and French patients. We conducted genetic examination of Asn56Ser or Asn457Thr mutations, but none was found in 310 PD patients from North America. We did identify a non-disease-associated polymorphism Pro460Thr. Our results suggest that the GIGYF2 Asn56Ser and Asn457Thr mutations are a rare cause of PD in North American Caucasian population.

DOI: 10.1016/j.neulet.2009.03.039
PubMed: 19429085

Links to Exploration step

pubmed:19429085

Le document en format XML

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<author><name sortKey="Guo, Yi" sort="Guo, Yi" uniqKey="Guo Y" first="Yi" last="Guo">Yi Guo</name>
<affiliation><nlm:affiliation>Department of Medical Information, Xiangya School of Medicine, Central South University, Changsha, China.</nlm:affiliation>
</affiliation>
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<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
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<author><name sortKey="Zhu, Shaihong" sort="Zhu, Shaihong" uniqKey="Zhu S" first="Shaihong" last="Zhu">Shaihong Zhu</name>
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<author><name sortKey="Le, Weidong" sort="Le, Weidong" uniqKey="Le W" first="Weidong" last="Le">Weidong Le</name>
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<author><name sortKey="Song, Zhi" sort="Song, Zhi" uniqKey="Song Z" first="Zhi" last="Song">Zhi Song</name>
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<author><name sortKey="Xie, Wenjie" sort="Xie, Wenjie" uniqKey="Xie W" first="Wenjie" last="Xie">Wenjie Xie</name>
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<author><name sortKey="Liao, Daoguang" sort="Liao, Daoguang" uniqKey="Liao D" first="Daoguang" last="Liao">Daoguang Liao</name>
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<author><name sortKey="Yang, Huarong" sort="Yang, Huarong" uniqKey="Yang H" first="Huarong" last="Yang">Huarong Yang</name>
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<author><name sortKey="Deng, Hao" sort="Deng, Hao" uniqKey="Deng H" first="Hao" last="Deng">Hao Deng</name>
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<term>Middle Aged</term>
<term>Mutation</term>
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<term>Parkinson Disease (genetics)</term>
<term>Polymerase Chain Reaction</term>
<term>Polymorphism, Single-Stranded Conformational</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Carrier Proteins</term>
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<keywords scheme="MESH" xml:lang="en"><term>Female</term>
<term>Humans</term>
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<front><div type="abstract" xml:lang="en">Parkinson disease (PD) is one of the most common neurodegenerative disorders with major clinical features of bradykinesia, rigidity, resting tremor, and postural instability. At least thirteen gene loci responsible for PD or parkinsonism have been found and nine causative genes have been identified. Recently, Asn56Ser or Asn457Thr mutations in the Grb10-Interacting GYF Protein-2 gene (GIGYF2) were found to occur in about 2.4% familial PD Italian and French patients. We conducted genetic examination of Asn56Ser or Asn457Thr mutations, but none was found in 310 PD patients from North America. We did identify a non-disease-associated polymorphism Pro460Thr. Our results suggest that the GIGYF2 Asn56Ser and Asn457Thr mutations are a rare cause of PD in North American Caucasian population.</div>
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Serveur d'exploration autour de Joseph Jankovic

GIGYF2 Asn56Ser and Asn457Thr mutations in Parkinson disease patients.

GIGYF2 Asn56Ser and Asn457Thr mutations in Parkinson disease patients.

Source :

English descriptors

Abstract

Links to Exploration step

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