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https://www.readbyqxmd.com/read/27872751/novel-gene-tmem230-linked-to-parkinson-s-disease
#1
EDITORIAL
Diana A Olszewska, Conor Fearon, Tim Lynch
Mutations in six genes are known to cause Parkinson's disease (PD) (autosomal dominant: alpha-synuclein, LRRK2, VPS35 and autosomal recessive: Parkin, PINK1 and DJ1) and number of other genes are implicated. In a recent article Deng and colleagues studied a large four generation American family of European descent and linked mutations in a novel gene, transmembrane-protein 230 gene (TMEM230) with lewy body confirmed PD. The authors demonstrated that pathogenic TMEM230 variants in primary mouse neurons affected movement of synaptic vesicles suggesting that TMEM230 may slow vesicular transport...
2016: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/27869322/tmem230-stop-codon-mutation-is-rare-in-parkinson-s-disease-and-essential-tremor-in-eastern-china
#2
Ya-Chao He, Pei Huang, Qiong-Qiong Li, Qian Sun, Dun-Hui Li, Tian Wang, Jun-Yi Shen, Sheng-Di Chen
No abstract text is available yet for this article.
November 21, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27818000/lack-of-evidence-for-a-role-of-genetic-variation-in-tmem230-in-the-risk-for-parkinson-s-disease-in-the-caucasian-population
#3
Anamika Giri, Kin Y Mok, Iris Jansen, Manu Sharma, Christelle Tesson, Graziella Mangone, Suzanne Lesage, José M Bras, Josua Shulman, Una-Marie Sheerin, Mónica Díez-Fairen, Pau Pastor, María José Martí, Mario Ezquerra, Eduardo Tolosa, Leonor Correia-Guedes, Joaquim Ferreira, Najaf Amin, Cornelia M van Duijn, Jeroen van Rooij, André G Uitterlinden, Robert Kraaij, Michael Nalls, Javier Simón-Sánchez
Mutations in TMEM230 have recently been associated to Parkinson's disease (PD). To further understand the role of this gene in the Caucasian population, we interrogated our large repository of next generation sequencing data from unrelated PD cases and controls, as well as multiplex families with autosomal dominant PD. We identified 2 heterozygous missense variants in 2 unrelated PD cases and not in our control database (p.Y106H and p.I162V), and a heterozygous missense variant in 2 PD cases from the same family (p...
October 11, 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/27814995/tmem230-mutation-analysis-in-parkinson-s-disease-in-a-chinese-population
#4
Weiqian Yan, Beisha Tang, Xiaoxia Zhou, Lifang Lei, Kai Li, Qiying Sun, Qian Xu, Xinxiang Yan, Jifeng Guo, Zhenhua Liu
Mutations in TMEM230 were identified as a genetic factor for Parkinson's disease (PD) with typical clinical symptoms and Lewy bodies in a North American population, and a highly prevalent TMEM230 mutation, c.550_552delTAGinsCCCGGG (p.*184ProGlyext*5), was found in 7 Chinese families. In the present study, we investigated the prevalence of TMEM230 mutations in a large cohort of Chinese PD patients and healthy controls individuals from mainland China. We sequenced all exons and exon-intron boundaries of TMEM230 in Chinese Han population including 1235 patients with PD and 1252 healthy control individuals...
October 11, 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/27270108/identification-of-tmem230-mutations-in-familial-parkinson-s-disease
#5
Han-Xiang Deng, Yong Shi, Yi Yang, Kreshnik B Ahmeti, Nimrod Miller, Cao Huang, Lijun Cheng, Hong Zhai, Sheng Deng, Karen Nuytemans, Nicola J Corbett, Myung Jong Kim, Hao Deng, Beisha Tang, Ziquang Yang, Yanming Xu, Piu Chan, Bo Huang, Xiao-Ping Gao, Zhi Song, Zhenhua Liu, Faisal Fecto, Nailah Siddique, Tatiana Foroud, Joseph Jankovic, Bernardino Ghetti, Daniel A Nicholson, Dimitri Krainc, Onur Melen, Jeffery M Vance, Margaret A Pericak-Vance, Yong-Chao Ma, Ali H Rajput, Teepu Siddique
Parkinson's disease is the second most common neurodegenerative disorder without effective treatment. It is generally sporadic with unknown etiology. However, genetic studies of rare familial forms have led to the identification of mutations in several genes, which are linked to typical Parkinson's disease or parkinsonian disorders. The pathogenesis of Parkinson's disease remains largely elusive. Here we report a locus for autosomal dominant, clinically typical and Lewy body-confirmed Parkinson's disease on the short arm of chromosome 20 (20pter-p12) and identify TMEM230 as the disease-causing gene...
July 2016: Nature Genetics
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