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https://www.readbyqxmd.com/read/28568905/tmem230-how-does-it-fit-in-the-etiology-and-pathogenesis-of-parkinson-s-disease
#1
REVIEW
Wim Mandemakers, Marialuisa Quadri, Maria Stamelou, Vincenzo Bonifati
Mutations in the transmembrane protein 230 (TMEM230) gene were recently identified in a large Canadian pedigree and 7 smaller Chinese families, nominating TMEM230 as the third gene causing a Mendelian form of late onset Parkinson's disease (PD) with typical Lewy-body pathology (after synuclein alpha (SNCA) and leucine rich repeat kinase 2 (LRRK2)). The protein encoded by TMEM230 remains largely uncharacterized, but initial evidence points to roles in the trafficking of recycling vesicles, retromers, and endosomes, suggesting intriguing links to the pathways targeted by other PD-causing genes...
June 1, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28542953/zebrafish-tmem230a-cooperates-with-the-delta-notch-signaling-pathway-to-modulate-endothelial-cell-number-in-angiogenic-vessels
#2
Silvia Carra, Lorenzo Sangiorgio, Paride Pelucchi, Solei Cermenati, Alessandra Mezzelani, Valentina Martino, Mira Palizban, Alberto Albertini, Martin Götte, James Kehler, Gianluca Deflorian, Monica Beltrame, Antonio Giordano, Rolland Reinbold, Franco Cotelli, Gianfranco Bellipanni, Ileana Zucchi
During embryonic development, new arteries and veins form from preexisting vessels in response to specific angiogenic signals. Angiogenic signaling is complex since not all endothelial cells exposed to angiogenic signals respond equally. Some cells will be selected to become tip cells and acquire migration and proliferation capacity necessary for vessel growth while others, the stalk cells become trailer cells that stay connected with pre-existing vessels and act as a linkage to new forming vessels. Additionally, stalk and tip cells have the capacity to interchange their roles...
May 25, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28527219/tmem230-accumulation-in-granulovacuolar-degeneration-bodies-and-dystrophic-neurites-of-alzheimer-s-disease
#3
Sandra L Siedlak, Yingfei Jiang, Mikayla L Huntley, Luwen Wang, Ju Gao, Fei Xie, Jingyi Liu, Bo Su, George Perry, Xinglong Wang
Transmembrane Protein 230 (TMEM230) is a newly identified protein associated with Parkinson's disease (PD) found in Lewy bodies and Lewy neurites of patients with PD or dementia with Lewy body disease. However, TMEM230 has not yet been investigated in the most common neurodegenerative disorder, Alzheimer's disease (AD). Here, we demonstrate that the expression of TMEM230 is specifically increased in neurons in AD patients. Importantly, both granulovacuolar degeneration (GVD) and dystrophic neurites (DNs), two prominent characteristic pathological structures associated with AD, contain TMEM230 aggregates...
May 17, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28457580/tmem230-in-parkinson-s-disease
#4
Laura Ibanez, Umber Dube, John Budde, Kathleen Black, Alexandra Medvedeva, Albert A Davis, Joel S Perlmutter, Bruno A Benitez, Carlos Cruchaga
A study on familial Parkinson disease (PD) described 4 variants in the gene TMEM230 (Chr. 20p13) as the cause of PD. The aim of this study was to test if variants in the TMEM230 gene are associated with PD in 2 independent American European data sets. No variants in the TMEM230 region were found associated with PD, age at onset, or cerebrospinal fluid α-synuclein levels.
March 16, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28455698/tmem230-mutations-are-rare-in-han-chinese-patients-with-autosomal-dominant-parkinson-s-disease
#5
Qianqian Wei, Ruwei Ou, Qingqing Zhou, Yongping Chen, Bei Cao, Xiaojing Gu, Bi Zhao, Ying Wu, Wei Song, Hui-Fang Shang
Mutations in the gene encoding the transmembrane protein 230 (TMEM230) have been reported in patients with familial, autosomal dominant inherited Parkinson's disease (ADPD). The aim of the present study was to explore the role and the prevalence of TMEM230 mutations in Chinese patients with ADPD. A cohort of 120 patients with ADPD and 650 healthy controls (HCs) from the Department of Neurology, West China Hospital of Sichuan University was screened. The entire coding exons of TREM230 in all the patients, as well as exon 5 of this gene in the 650 HCs, were directly sequenced with the Sanger sequencing approach...
April 28, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28446760/genetic-analysis-of-the-tmem230-gene-in-chinese-han-patients-with-parkinson-s-disease
#6
Chang-He Shi, Fang Li, Meng-Meng Shi, Zhi-Hua Yang, Cheng-Yuan Mao, Shu-Yu Zhang, Hui Wang, Yuan Cheng, Jing Yang, Jun Wu, Yu-Ming Xu
TMEM230 mutations have been recently reported to cause autosomal dominant Parkinson's disease (PD). However, there are limited studies from different ethnic populations to support the role of TMEM230 in sporadic PD. In this study, we performed a comprehensive TMEM230 mutation screening in 550 sporadic PD patients and 560 controls to elaborate the genetic contribution of TMEM230 to sporadic PD. Overall, we did not find any pathogenic mutations in the coding sequence, while we identified four variants (c.68 + 182G > A, c...
April 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28115417/the-parkinson-s-disease-linked-protein-tmem230-is-required-for-rab8a-mediated-secretory-vesicle-trafficking-and-retromer-trafficking
#7
Myung Jong Kim, Han-Xiang Deng, Yvette C Wong, Teepu Siddique, Dimitri Krainc
TMEM230 is a newly identified Parkinson's disease (PD) gene encoding a transmembrane protein whose cellular and pathogenic roles remain largely unknown. Here, we demonstrate that loss of TMEM230 disrupts retromer cargo CI-M6PR (cation-independent mannose 6-phosphate receptor) trafficking and autophagic cargo degradation rates. TMEM230 depletion further inhibits extracellular secretion of the autophagic cargo p62 and immature lysosomal hydrolases in Golgi-derived vesicles leading to their intracellular accumulation, and is specifically mediated by loss of the small GTPase Rab8a...
February 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28090676/mutations-in-tmem230-are-not-a-common-cause-of-parkinson-s-disease
#8
LETTER
Marialuisa Quadri, Guido J Breedveld, Hsiu-Chen Chang, Tu-Hsueh Yeh, Leonor Correia Guedes, Vincenzo Toni, Edito Fabrizio, Michele De Mari, Astrid Thomas, Cristina Tassorelli, Janneke P M A Rood, Valeria Saddi, Hsin Fen Chien, Anneke J A Kievit, Agnita J W Boon, Fabrizio Stocchi, Leonardo Lopiano, Giovanni Abbruzzese, Pietro Cortelli, Giuseppe Meco, Giovanni Cossu, Egberto Reis Barbosa, Joaquim J Ferreira, Chin-Song Lu, Vincenzo Bonifati
No abstract text is available yet for this article.
February 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27872751/novel-gene-tmem230-linked-to-parkinson-s-disease
#9
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
#10
LETTER
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.
February 2017: 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
#11
Anamika Giri, Kin Y Mok, Iris Jansen, Manu Sharma, Christelle Tesson, Graziella Mangone, Suzanne Lesage, José M Bras, Joshua M 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...
February 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/27814995/tmem230-mutation-analysis-in-parkinson-s-disease-in-a-chinese-population
#12
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...
January 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/27270108/identification-of-tmem230-mutations-in-familial-parkinson-s-disease
#13
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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