مورد إلكتروني
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway
| العنوان: | The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway |
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| المؤلفون: | Lee, Hsien-Yang, Xu, Ying, Huang, Yong, Ahn, Andrew H., Auburger, Georg W. J., Pandolfo, Massimo, Kwieciński, Hubert, Grimes, David A., Lang, Anthony E., Nielsen, Jorgen E., Averyanov, Yuri, Servidei, Serenella, Friedman, Andrzej, Van Bogaert, Patrick, Abramowicz, Marc J., Bruno, Michiko K., Sorensen, Beatrice F., Tang, Ling, Fu, Ying-Hui, Ptáček, Louis J., Servidei, Serenella (ORCID:0000-0001-8478-2799) |
| بيانات النشر: | OXFORD UNIV PRESS 2004 |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | Paroxysmal non-kinesigenic dyskinesia (PNKD) is characterized by spontaneous hyperkinetic attacks that are precipitated by alcohol, coffee, stress and fatigue. We report mutations in the myofibrillogenesis regulator 1 (MR-1) gene causing PNKD in 50 individuals from eight families. The mutations cause changes (Ala to Val) in the N-terminal region of two MR-1L isoforms. The MR-1L isoform is specifically expressed in brain and is localized to the cell membrane while the MR-1S isoform is ubiquitously expressed and shows diffuse cytoplasmic and nuclear localization. Bioinformatic analysis reveals that the MR-1 gene is homologous to the hydroxyacylglutathione hydrolase (HAGH) gene. HAGH functions in a pathway to detoxify methylglyoxal, a compound present in coffee and alcoholic beverages and produced as a by-product of oxidative stress. Our results suggest a mechanism whereby alcohol, coffee and stress may act as precipitants of attacks in PNKD. Stress response pathways will be important areas for elucidation of episodic disease genetics where stress is a common precipitant of many common disorders like epilepsy, migraine and cardiac arrhythmias. © Oxford University Press 2004; all rights reserved. |
| مصطلحات الفهرس: | Animal, Central Nervous System, Chorea, Chromosome Mapping, Female, Human, In Situ Hybridization, Male, Mice, Muscle Protein, Mutation, Pedigree, Protein Isoform, Sequence Analysis, DNA, Stress, Physiological, Molecular Biology, Genetic, Genetics (clinical), Settore MED/26 - NEUROLOGIA, info:eu-repo/semantics/article |
| URL: | info:eu-repo/semantics/altIdentifier/pmid/15496428 info:eu-repo/semantics/altIdentifier/wos/WOS:000226055100012 volume:13 issue:24 firstpage:3161 lastpage:3170 numberofpages:10 issueyear:2004 journal:HUMAN MOLECULAR GENETICS |
| الإتاحة: | Open access content. Open access content |
| ملاحظة: | English |
| أرقام أخرى: | SYC oai:publicatt.unicatt.it:10807/115368 10.1093/hmg/ddh330 info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-19944407549 1105033187 |
| المصدر المساهم: | UNIV CATTOLICA DEL SACRO CUORE From OAIster®, provided by the OCLC Cooperative. |
| رقم الأكسشن: | edsoai.on1105033187 |
| قاعدة البيانات: | OAIster |
| الوصف غير متاح. |