| Transmembrane protein TMEM230, regulator of metalloproteins and motor proteins in gliomas and gliosis. | Transmembrane protein TMEM230, regulator of metalloproteins and motor proteins in gliomas and gliosis.
Cocola C, Abeni E, Martino V, Piscitelli E, Morara S, Pelucchi P, Mosca E, Chiodi A, Mohamed T, Palizban M, De Petro G, Porta G, Greve B, Noghero A, Magnaghi V, Bellipanni G, Kehler J, Götte M, Bussolino F, Milanesi L, Zucchi I, Reinbold R. | 07/29/2024 |
| Loci on chromosome 20 interact with rs16969968 to influence cigarettes per day in European ancestry individuals. | Loci on chromosome 20 interact with rs16969968 to influence cigarettes per day in European ancestry individuals.
Romero Villela PN, Evans LM, Palviainen T, Border R, Kaprio J, Palmer RHC, Keller MC, Ehringer MA., | 06/20/2024 |
| Transmembrane Protein TMEM230, Regulator of Glial Cell Vascular Mimicry and Endothelial Cell Angiogenesis in High-Grade Heterogeneous Infiltrating Gliomas and Glioblastoma. | Transmembrane Protein TMEM230, Regulator of Glial Cell Vascular Mimicry and Endothelial Cell Angiogenesis in High-Grade Heterogeneous Infiltrating Gliomas and Glioblastoma.
Cocola C, Abeni E, Martino V, Piscitelli E, Pelucchi P, Mosca E, Chiodi A, Mohamed T, Palizban M, Porta G, Palizban H, Nano G, Acquati F, Bruno A, Greve B, Gerovska D, Magnaghi V, Mazzaccaro D, Bertalot G, Kehler J, Balbino C, Arauzo-Bravo MJ, Götte M, Zucchi I, Reinbold RA., Free PMC Article | 05/13/2024 |
| This study did not detect the identified familial PD-linked *184ProGlyext*5 mutation. | Sequencing TMEM230 in Chinese patients with sporadic or familial Parkinson's disease.
Yang X, An R, Xi J, Zheng J, Chen Y, Huang H, Tian S, Zhao Q, Ning P, Xu Y. | 09/14/2022 |
| Controversy of TMEM230 Associated with Parkinson's Disease. | Controversy of TMEM230 Associated with Parkinson's Disease.
Wang X, Whelan E, Liu Z, Liu CF, Smith WW. | 08/21/2021 |
| Analysis of the TMEM230 gene in familial Parkinson's disease from south Italy. | Analysis of the TMEM230 gene in familial Parkinson's disease from south Italy.
Procopio R, Gagliardi M, Nicoletti G, Morelli M, Annesi G, Quattrone A. | 09/12/2020 |
| No pathogenic TMEM230 variants were detect in patient with multiple system atrophy. | Analysis of the TMEM230 gene in patients with multiple system atrophy.
Procopio R, Gagliardi M, Brighina L, Nicoletti G, Morelli M, Piatti M, Annesi G, Quattrone A. | 07/20/2019 |
| The findings of this study suggested that TMEM230 mutations may not play a role in the development of familial Parkinson's disease. | Genetic analysis of TMEM230 in Japanese patients with familial Parkinson's disease.
Conedera SA, Li Y, Funayama M, Yoshino H, Nishioka K, Hattori N. | 04/20/2019 |
| TMEM230 mutations are very rare in the autosomal dominant inherited Parkinson's disease Han Chinese population. | TMEM230 Mutations Are Rare in Han Chinese Patients with Autosomal Dominant Parkinson's Disease.
Wei Q, Ou R, Zhou Q, Chen Y, Cao B, Gu X, Zhao B, Wu Y, Song W, Shang HF. | 02/16/2019 |
| Findings suggest that the incidence of pathogenic variations in TMEM230 is very low and, therefore, TMEM230 do not play a major role in familial and sporadic Parkinson's disease patients in southern Spanish population which can have important implication in clinical investigation. | TMEM230 in Parkinson's disease in a southern Spanish population.
Tejera-Parrado C, Jesús S, López-Ruíz A, Buiza-Rueda D, Bonilla-Toribio M, Bernal-Bernal I, Periñán MT, Vargas-González L, Gómez-Garre P, Mir P., Free PMC Article | 12/1/2018 |
| These results suggest that TMEM230 mutations are not a frequent cause of PD with AD inheritance in the Italian population. | Mutations in TMEM230 are rare in autosomal dominant Parkinson's disease.
Buongarzone G, Monfrini E, Franco G, Trezzi I, Borellini L, Frattini E, Melzi V, Di Caprio AC, Ronchi D, Monzio Compagnoni G, Cogiamanian F, Ardolino G, Bresolin N, Comi GP, Corti S, Di Fonzo A. | 11/24/2018 |
| TMEM230 mutations are rare in Chinese patients with familial PD. | Genetic analysis of the TMEM230 gene in Chinese patients with familial Parkinson disease.
Wu H, Zheng X, Cen Z, Xie F, Chen Y, Lu X, Luo W. | 11/3/2018 |
| This study suggest that mutations in TMEM230 are not a common cause of Parkinson's disease. | Mutations in TMEM230 are not a common cause of Parkinson's disease.
Quadri M, Breedveld GJ, Chang HC, Yeh TH, Guedes LC, Toni V, Fabrizio E, De Mari M, Thomas A, Tassorelli C, Rood JP, Saddi V, Chien HF, Kievit AJ, Boon AJ, Stocchi F, Lopiano L, Abbruzzese G, Cortelli P, Meco G, Cossu G, Barbosa ER, Ferreira JJ, International Parkinsonism Genetics Network, Lu CS, Bonifati V. | 10/20/2018 |
| the TMEM230 stop codon mutation is rare in Parkinson's disease and essential tremor patients from China, especially eastern China. | TMEM230 stop codon mutation is rare in parkinson's disease and essential tremor in eastern China.
He YC, Huang P, Li QQ, Sun Q, Li DH, Wang T, Shen JY, Chen SD. | 10/20/2018 |
| Study did not detect any potential functional exonic TMEM230 variants in sporadic multiple system atrophy in a Han Chinese cohort. | Sequence TMEM230 gene in patients with multiple system atrophy in a southwest Chinese population: A pilot study.
Yang X, An R, Xi J, Zhen J, Chen Y, Huang H, Tian S, Zhao Q, Ning P, Xu Y. | 09/29/2018 |
| These results suggest that TMEM230 gene mutations may be rare in Chinese populations, and the variability of TMEM230 gene may not be a main factor for sporadic Parkinson's disease patients in Chinese Han populations. | Genetic analysis of the TMEM230 gene in Chinese Han patients with Parkinson's disease.
Shi CH, Li F, Shi MM, Yang ZH, Mao CY, Zhang SY, Wang H, Cheng Y, Yang J, Wu J, Xu YM., Free PMC Article | 09/8/2018 |
| These findings identifying TMEM230 as a component of granulovacuolar degeneration and dystrophic neurites suggest TMEM230 dysregulation as a likely mechanism playing an important role in the pathogenesis of Alzheimer's Disease. | TMEM230 Accumulation in Granulovacuolar Degeneration Bodies and Dystrophic Neurites of Alzheimer's Disease.
Siedlak SL, Jiang Y, Huntley ML, Wang L, Gao J, Xie F, Liu J, Su B, Perry G, Wang X. | 05/26/2018 |
| The identification of TMEM230 mutations in Parkinson's disease is potentially an important finding. | TMEM230: How does it fit in the etiology and pathogenesis of Parkinson's disease?
Mandemakers W, Quadri M, Stamelou M, Bonifati V. | 05/5/2018 |
| TMEM230 mutation might be a rare cause of Chinese familial and sporadic Parkinson's-disease patients. | Screening for TMEM230 mutations in young-onset Parkinson's disease.
Ma D, Foo JN, Yulin Ng E, Zhao Y, Liu JJ, Tan EK. | 02/17/2018 |
| Mutation in TMEM230 gene is not associated with Parkinson's disease. | Lack of TMEM230 mutations in patients with familial and sporadic Parkinson's disease in a Taiwanese population.
Fan TS, Lin CH, Lin HI, Chen ML, Wu RM. | 02/10/2018 |
| TMEM230 mutation may not be a common genetic factor for Chinese familial and sporadic PD patients. | TMEM230 mutation analysis in Parkinson's disease in a Chinese population.
Yan W, Tang B, Zhou X, Lei L, Li K, Sun Q, Xu Q, Yan X, Guo J, Liu Z. | 11/18/2017 |
| No variants in the TMEM230 region were found associated with PD, age at onset, or cerebrospinal fluid alpha-synuclein levels | TMEM230 in Parkinson's disease.
Ibanez L, Dube U, Budde J, Black K, Medvedeva A, Davis AA, Perlmutter JS, Benitez BA, Cruchaga C., Free PMC Article | 11/18/2017 |
| Mutations in TMEM230 is associated to Parkinson's disease (PD). | Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population.
Giri A, Mok KY, Jansen I, Sharma M, Tesson C, Mangone G, Lesage S, Bras JM, Shulman JM, Sheerin UM, International Parkinson's Disease Consortium (IPDGC), Díez-Fairen M, Pastor P, Martí MJ, Ezquerra M, Tolosa E, Correia-Guedes L, Ferreira J, Amin N, van Duijn CM, van Rooij J, Uitterlinden AG, Kraaij R, Nalls M, Simón-Sánchez J., Free PMC Article | 10/7/2017 |
| TMEM230 mutation is associated with Parkinson's disease. | Identification of TMEM230 mutations in familial Parkinson's disease.
Deng HX, Shi Y, Yang Y, Ahmeti KB, Miller N, Huang C, Cheng L, Zhai H, Deng S, Nuytemans K, Corbett NJ, Kim MJ, Deng H, Tang B, Yang Z, Xu Y, Chan P, Huang B, Gao XP, Song Z, Liu Z, Fecto F, Siddique N, Foroud T, Jankovic J, Ghetti B, Nicholson DA, Krainc D, Melen O, Vance JM, Pericak-Vance MA, Ma YC, Rajput AH, Siddique T., Free PMC Article | 09/9/2017 |
| knockdown of another Parkinson's disease (PD) gene, LRRK2, which phosphorylates Rab8a, similarly impairs retromer trafficking, secretory autophagy and Golgi-derived vesicle secretion, thus demonstrating converging roles of two PD genes TMEM230 and LRRK2 on Rab8a function, and suggesting that retromer and secretory dysfunction play an important role in PD pathogenesis. | The Parkinson's disease-linked protein TMEM230 is required for Rab8a-mediated secretory vesicle trafficking and retromer trafficking.
Kim MJ, Deng HX, Wong YC, Siddique T, Krainc D., Free PMC Article | 06/24/2017 |