TMEM175 c.1178T>C ;(p.M393T)

Variant ID: 4-951947-T-C

NM_032326.2(TMEM175):c.1178T>C;(p.M393T)

This variant was identified in 90 publications

View GRCh38 version.




Publications:


Transmembrane Protein 175, a Lysosomal Ion Channel Related to Parkinson's Disease.

Biomolecules
Tang, Tuoxian T; Jian, Boshuo B; Liu, Zhenjiang Z
Publication Date: 2023-05-09

Variant appearance in text: TMEM175: M393T; rs34311866
PubMed Link: 37238672
Variant Present in the following documents:
  • Main text
  • biomolecules-13-00802.pdf
View BVdb publication page



Advances in Drug Discovery Targeting Lysosomal Membrane Proteins.

Pharmaceuticals (Basel, Switzerland)
Wang, Hongna H; Zhu, Yidong Y; Liu, Huiyan H; Liang, Tianxiang T; Wei, Yongjie Y
Publication Date: 2023-04-17

Variant appearance in text: TMEM175: M393T
PubMed Link: 37111358
Variant Present in the following documents:
  • Main text
  • pharmaceuticals-16-00601.pdf
View BVdb publication page



Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: TMEM175: M393T
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
View BVdb publication page



Genetics of Neurogenic Orthostatic Hypotension in Parkinson's Disease, Results from a Cross-Sectional In Silico Study.

Brain Sciences
Chevalier, Guenson G; Udovin, Lucas L; Otero-Losada, Matilde M; Bordet, Sofia S; Capani, Francisco F; Luo, Sheng S; Goetz, Christopher G CG; Perez-Lloret, Santiago S
Publication Date: 2023-03-17

Variant appearance in text: rs34311866
PubMed Link: 36979316
Variant Present in the following documents:
  • brainsci-13-00506.pdf
View BVdb publication page



Common and Rare Variants in TMEM175 Gene Concur to the Pathogenesis of Parkinson's Disease in Italian Patients.

Molecular Neurobiology
Palomba, Nicole Piera NP; Fortunato, Giorgio G; Pepe, Giuseppe G; Modugno, Nicola N; Pietracupa, Sara S; Damiano, Immacolata I; Mascio, Giada G; Carrillo, Federica F; Di Giovannantonio, Luca Giovanni LG; Ianiro, Laura L; Martinello, Katiuscia K; Volpato, Viola V; Desiato, Vincenzo V; Acri, Riccardo R; Storto, Marianna M; Nicoletti, Ferdinando F; Webber, Caleb C; Simeone, Antonio A; Fucile, Sergio S; Maglione, Vittorio V; Esposito, Teresa T
Publication Date: 2023-01-07

Variant appearance in text: TMEM175: M393T; rs34311866
PubMed Link: 36609826
Variant Present in the following documents:
  • Main text
  • 12035_2022_Article_3203.pdf
View BVdb publication page



Pathogenesis of α-Synuclein in Parkinson's Disease: From a Neuron-Glia Crosstalk Perspective.

International Journal Of Molecular Sciences
Yi, Shuanglong S; Wang, Linfang L; Wang, Honglei H; Ho, Margaret S MS; Zhang, Shiping S
Publication Date: 2022-11-25

Variant appearance in text: TMEM175: M393T
PubMed Link: 36499080
Variant Present in the following documents:
  • Main text
  • ijms-23-14753.pdf
View BVdb publication page



Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects.

Nature Communications
Krohn, Lynne L; Heilbron, Karl K; Blauwendraat, Cornelis C; Reynolds, Regina H RH; Yu, Eric E; Senkevich, Konstantin K; Rudakou, Uladzislau U; Estiar, Mehrdad A MA; Gustavsson, Emil K EK; Brolin, Kajsa K; Ruskey, Jennifer A JA; Freeman, Kathryn K; Asayesh, Farnaz F; Chia, Ruth R; Arnulf, Isabelle I; Hu, Michele T M MTM; Montplaisir, Jacques Y JY; Gagnon, Jean-François JF; Desautels, Alex A; Dauvilliers, Yves Y; Gigli, Gian Luigi GL; Valente, Mariarosaria M; Janes, Francesco F; Bernardini, Andrea A; Högl, Birgit B; Stefani, Ambra A; Ibrahim, Abubaker A; Šonka, Karel K; Kemlink, David D; Oertel, Wolfgang W; Janzen, Annette A; Plazzi, Giuseppe G; Biscarini, Francesco F; Antelmi, Elena E; Figorilli, Michela M; Puligheddu, Monica M; Mollenhauer, Brit B; Trenkwalder, Claudia C; Sixel-Döring, Friederike F; Cochen De Cock, Valérie V; Monaca, Christelle Charley CC; Heidbreder, Anna A; Ferini-Strambi, Luigi L; Dijkstra, Femke F; Viaene, Mineke M; Abril, Beatriz B; Boeve, Bradley F BF; , ; Scholz, Sonja W SW; Ryten, Mina M; Bandres-Ciga, Sara S; Noyce, Alastair A; Cannon, Paul P; Pihlstrøm, Lasse L; Nalls, Mike A MA; Singleton, Andrew B AB; Rouleau, Guy A GA; Postuma, Ronald B RB; Gan-Or, Ziv Z
Publication Date: 2022-12-05

Variant appearance in text: rs34311866
PubMed Link: 36470867
Variant Present in the following documents:
  • Main text
  • 41467_2022_34732_MOESM1_ESM.pdf
  • 41467_2022_Article_34732.pdf
  • 41467_2022_34732_MOESM2_ESM.pdf
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs34311866
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Mechanism of 4-aminopyridine inhibition of the lysosomal channel TMEM175.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Oh, SeCheol S; Stix, Robyn R; Zhou, Wenchang W; Faraldo-Gómez, José D JD; Hite, Richard K RK
Publication Date: 2022-11

Variant appearance in text: TMEM175: M393T
PubMed Link: 36279431
Variant Present in the following documents:
  • pnas.202208882.pdf
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: TMEM175: M393T
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: TMEM175: M393T
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Genetic Analysis of Six Transmembrane Protein Family Genes in Parkinson's Disease in a Large Chinese Cohort.

Frontiers In Aging Neuroscience
Zhao, Yuwen Y; Zhang, Kailin K; Pan, Hongxu H; Wang, Yige Y; Zhou, Xiaoxia X; Xiang, Yaqin Y; Xu, Qian Q; Sun, Qiying Q; Tan, Jieqiong J; Yan, Xinxiang X; Li, Jinchen J; Guo, Jifeng J; Tang, Beisha B; Liu, Zhenhua Z
Publication Date: 2022

Variant appearance in text: rs34311866
PubMed Link: 35860667
Variant Present in the following documents:
  • Main text
  • fnagi-14-889057.pdf
View BVdb publication page



Pinpointing novel risk loci for Lewy body dementia and the shared genetic etiology with Alzheimer's disease and Parkinson's disease: a large-scale multi-trait association analysis.

Bmc Medicine
Guo, Ping P; Gong, Weiming W; Li, Yuanming Y; Liu, Lu L; Yan, Ran R; Wang, Yanjun Y; Zhang, Yanan Y; Yuan, Zhongshang Z
Publication Date: 2022-06-22

Variant appearance in text: rs34311866
PubMed Link: 35729600
Variant Present in the following documents:
  • Main text
View BVdb publication page



Differential ion dehydration energetics explains selectivity in the non-canonical lysosomal K+ channel TMEM175.

Elife
Oh, SeCheol S; Marinelli, Fabrizio F; Zhou, Wenchang W; Lee, Jooyeon J; Choi, Ho Jeong HJ; Kim, Min M; Faraldo-Gómez, José D JD; Hite, Richard K RK
Publication Date: 2022-05-24

Variant appearance in text: TMEM175: M393T
PubMed Link: 35608336
Variant Present in the following documents:
  • Main text
  • elife-75122.pdf
View BVdb publication page



pH regulates potassium conductance and drives a constitutive proton current in human TMEM175.

Science Advances
Zheng, Wang W; Shen, Chen C; Wang, Longfei L; Rawson, Shaun S; Xie, Wen Jun WJ; Nist-Lund, Carl C; Wu, Jason J; Shen, Zhangfei Z; Xia, Shiyu S; Holt, Jeffrey R JR; Wu, Hao H; Fu, Tian-Min TM
Publication Date: 2022-03-25

Variant appearance in text: TMEM175: M393T
PubMed Link: 35333573
Variant Present in the following documents:
  • Main text
  • sciadv.abm1568.pdf
View BVdb publication page



Predictors of RBD progression and conversion to synucleinopathies.

Current Neurology And Neuroscience Reports
de Natale, Edoardo Rosario ER; Wilson, Heather H; Politis, Marios M
Publication Date: 2022-02

Variant appearance in text: TMEM175: M393T
PubMed Link: 35274191
Variant Present in the following documents:
  • Main text
  • 11910_2022_Article_1171.pdf
View BVdb publication page



Establishing gene regulatory networks from Parkinson's disease risk loci.

Brain : A Journal Of Neurology
Farrow, Sophie L SL; Schierding, William W; Gokuladhas, Sreemol S; Golovina, Evgeniia E; Fadason, Tayaza T; Cooper, Antony A AA; O'Sullivan, Justin M JM
Publication Date: 2022-07-29

Variant appearance in text: rs34311866
PubMed Link: 35094046
Variant Present in the following documents:
  • Main text
  • awac022.pdf
View BVdb publication page



Alzheimer's Disease and Parkinson's Disease May Result from Reactivation of Embryologic Pathways Silenced at Birth.

Discovery Medicine
Lehrer, Steven S; Rheinstein, Peter H PH
Publication Date: 2021

Variant appearance in text: TMEM175: M393T
PubMed Link: 34965376
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.

Nature Genetics
van Rheenen, Wouter W; van der Spek, Rick A A RAA; Bakker, Mark K MK; van Vugt, Joke J F A JJFA; Hop, Paul J PJ; Zwamborn, Ramona A J RAJ; de Klein, Niek N; Westra, Harm-Jan HJ; Bakker, Olivier B OB; Deelen, Patrick P; Shireby, Gemma G; Hannon, Eilis E; Moisse, Matthieu M; Baird, Denis D; Restuadi, Restuadi R; Dolzhenko, Egor E; Dekker, Annelot M AM; Gawor, Klara K; Westeneng, Henk-Jan HJ; Tazelaar, Gijs H P GHP; van Eijk, Kristel R KR; Kooyman, Maarten M; Byrne, Ross P RP; Doherty, Mark M; Heverin, Mark M; Al Khleifat, Ahmad A; Iacoangeli, Alfredo A; Shatunov, Aleksey A; Ticozzi, Nicola N; Cooper-Knock, Johnathan J; Smith, Bradley N BN; Gromicho, Marta M; Chandran, Siddharthan S; Pal, Suvankar S; Morrison, Karen E KE; Shaw, Pamela J PJ; Hardy, John J; Orrell, Richard W RW; Sendtner, Michael M; Meyer, Thomas T; Başak, Nazli N; van der Kooi, Anneke J AJ; Ratti, Antonia A; Fogh, Isabella I; Gellera, Cinzia C; Lauria, Giuseppe G; Corti, Stefania S; Cereda, Cristina C; Sproviero, Daisy D; D'Alfonso, Sandra S; Sorarù, Gianni G; Siciliano, Gabriele G; Filosto, Massimiliano M; Padovani, Alessandro A; Chiò, Adriano A; Calvo, Andrea A; Moglia, Cristina C; Brunetti, Maura M; Canosa, Antonio A; Grassano, Maurizio M; Beghi, Ettore E; Pupillo, Elisabetta E; Logroscino, Giancarlo G; Nefussy, Beatrice B; Osmanovic, Alma A; Nordin, Angelica A; Lerner, Yossef Y; Zabari, Michal M; Gotkine, Marc M; Baloh, Robert H RH; Bell, Shaughn S; Vourc'h, Patrick P; Corcia, Philippe P; Couratier, Philippe P; Millecamps, Stéphanie S; Meininger, Vincent V; Salachas, François F; Mora Pardina, Jesus S JS; Assialioui, Abdelilah A; Rojas-García, Ricardo R; Dion, Patrick A PA; Ross, Jay P JP; Ludolph, Albert C AC; Weishaupt, Jochen H JH; Brenner, David D; Freischmidt, Axel A; Bensimon, Gilbert G; Brice, Alexis A; Durr, Alexandra A; Payan, Christine A M CAM; Saker-Delye, Safa S; Wood, Nicholas W NW; Topp, Simon S; Rademakers, Rosa R; Tittmann, Lukas L; Lieb, Wolfgang W; Franke, Andre A; Ripke, Stephan S; Braun, Alice A; Kraft, Julia J; Whiteman, David C DC; Olsen, Catherine M CM; Uitterlinden, Andre G AG; Hofman, Albert A; Rietschel, Marcella M; Cichon, Sven S; Nöthen, Markus M MM; Amouyel, Philippe P; , ; , ; , ; , ; Traynor, Bryan J BJ; Singleton, Andrew B AB; Mitne Neto, Miguel M; Cauchi, Ruben J RJ; Ophoff, Roel A RA; Wiedau-Pazos, Martina M; Lomen-Hoerth, Catherine C; van Deerlin, Vivianna M VM; Grosskreutz, Julian J; Roediger, Annekathrin A; Gaur, Nayana N; Jörk, Alexander A; Barthel, Tabea T; Theele, Erik E; Ilse, Benjamin B; Stubendorff, Beatrice B; Witte, Otto W OW; Steinbach, Robert R; Hübner, Christian A CA; Graff, Caroline C; Brylev, Lev L; Fominykh, Vera V; Demeshonok, Vera V; Ataulina, Anastasia A; Rogelj, Boris B; Koritnik, Blaž B; Zidar, Janez J; Ravnik-Glavač, Metka M; Glavač, Damjan D; Stević, Zorica Z; Drory, Vivian V; Povedano, Monica M; Blair, Ian P IP; Kiernan, Matthew C MC; Benyamin, Beben B; Henderson, Robert D RD; Furlong, Sarah S; Mathers, Susan S; McCombe, Pamela A PA; Needham, Merrilee M; Ngo, Shyuan T ST; Nicholson, Garth A GA; Pamphlett, Roger R; Rowe, Dominic B DB; Steyn, Frederik J FJ; Williams, Kelly L KL; Mather, Karen A KA; Sachdev, Perminder S PS; Henders, Anjali K AK; Wallace, Leanne L; de Carvalho, Mamede M; Pinto, Susana S; Petri, Susanne S; Weber, Markus M; Rouleau, Guy A GA; Silani, Vincenzo V; Curtis, Charles J CJ; Breen, Gerome G; Glass, Jonathan D JD; Brown, Robert H RH; Landers, John E JE; Shaw, Christopher E CE; Andersen, Peter M PM; Groen, Ewout J N EJN; van Es, Michael A MA; Pasterkamp, R Jeroen RJ; Fan, Dongsheng D; Garton, Fleur C FC; McRae, Allan F AF; Davey Smith, George G; Gaunt, Tom R TR; Eberle, Michael A MA; Mill, Jonathan J; McLaughlin, Russell L RL; Hardiman, Orla O; Kenna, Kevin P KP; Wray, Naomi R NR; Tsai, Ellen E; Runz, Heiko H; Franke, Lude L; Al-Chalabi, Ammar A; Van Damme, Philip P; van den Berg, Leonard H LH; Veldink, Jan H JH
Publication Date: 2021-12

Variant appearance in text: rs34311866
PubMed Link: 34873335
Variant Present in the following documents:
  • Main text
  • 41588_2021_973_MOESM1_ESM.pdf
  • 41588_2021_Article_973.pdf
View BVdb publication page



Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.

Nature Genetics
van Rheenen, Wouter W; van der Spek, Rick A A RAA; Bakker, Mark K MK; van Vugt, Joke J F A JJFA; Hop, Paul J PJ; Zwamborn, Ramona A J RAJ; de Klein, Niek N; Westra, Harm-Jan HJ; Bakker, Olivier B OB; Deelen, Patrick P; Shireby, Gemma G; Hannon, Eilis E; Moisse, Matthieu M; Baird, Denis D; Restuadi, Restuadi R; Dolzhenko, Egor E; Dekker, Annelot M AM; Gawor, Klara K; Westeneng, Henk-Jan HJ; Tazelaar, Gijs H P GHP; van Eijk, Kristel R KR; Kooyman, Maarten M; Byrne, Ross P RP; Doherty, Mark M; Heverin, Mark M; Al Khleifat, Ahmad A; Iacoangeli, Alfredo A; Shatunov, Aleksey A; Ticozzi, Nicola N; Cooper-Knock, Johnathan J; Smith, Bradley N BN; Gromicho, Marta M; Chandran, Siddharthan S; Pal, Suvankar S; Morrison, Karen E KE; Shaw, Pamela J PJ; Hardy, John J; Orrell, Richard W RW; Sendtner, Michael M; Meyer, Thomas T; Başak, Nazli N; van der Kooi, Anneke J AJ; Ratti, Antonia A; Fogh, Isabella I; Gellera, Cinzia C; Lauria, Giuseppe G; Corti, Stefania S; Cereda, Cristina C; Sproviero, Daisy D; D'Alfonso, Sandra S; Sorarù, Gianni G; Siciliano, Gabriele G; Filosto, Massimiliano M; Padovani, Alessandro A; Chiò, Adriano A; Calvo, Andrea A; Moglia, Cristina C; Brunetti, Maura M; Canosa, Antonio A; Grassano, Maurizio M; Beghi, Ettore E; Pupillo, Elisabetta E; Logroscino, Giancarlo G; Nefussy, Beatrice B; Osmanovic, Alma A; Nordin, Angelica A; Lerner, Yossef Y; Zabari, Michal M; Gotkine, Marc M; Baloh, Robert H RH; Bell, Shaughn S; Vourc'h, Patrick P; Corcia, Philippe P; Couratier, Philippe P; Millecamps, Stéphanie S; Meininger, Vincent V; Salachas, François F; Mora Pardina, Jesus S JS; Assialioui, Abdelilah A; Rojas-García, Ricardo R; Dion, Patrick A PA; Ross, Jay P JP; Ludolph, Albert C AC; Weishaupt, Jochen H JH; Brenner, David D; Freischmidt, Axel A; Bensimon, Gilbert G; Brice, Alexis A; Durr, Alexandra A; Payan, Christine A M CAM; Saker-Delye, Safa S; Wood, Nicholas W NW; Topp, Simon S; Rademakers, Rosa R; Tittmann, Lukas L; Lieb, Wolfgang W; Franke, Andre A; Ripke, Stephan S; Braun, Alice A; Kraft, Julia J; Whiteman, David C DC; Olsen, Catherine M CM; Uitterlinden, Andre G AG; Hofman, Albert A; Rietschel, Marcella M; Cichon, Sven S; Nöthen, Markus M MM; Amouyel, Philippe P; , ; , ; , ; , ; Traynor, Bryan J BJ; Singleton, Andrew B AB; Mitne Neto, Miguel M; Cauchi, Ruben J RJ; Ophoff, Roel A RA; Wiedau-Pazos, Martina M; Lomen-Hoerth, Catherine C; van Deerlin, Vivianna M VM; Grosskreutz, Julian J; Roediger, Annekathrin A; Gaur, Nayana N; Jörk, Alexander A; Barthel, Tabea T; Theele, Erik E; Ilse, Benjamin B; Stubendorff, Beatrice B; Witte, Otto W OW; Steinbach, Robert R; Hübner, Christian A CA; Graff, Caroline C; Brylev, Lev L; Fominykh, Vera V; Demeshonok, Vera V; Ataulina, Anastasia A; Rogelj, Boris B; Koritnik, Blaž B; Zidar, Janez J; Ravnik-Glavač, Metka M; Glavač, Damjan D; Stević, Zorica Z; Drory, Vivian V; Povedano, Monica M; Blair, Ian P IP; Kiernan, Matthew C MC; Benyamin, Beben B; Henderson, Robert D RD; Furlong, Sarah S; Mathers, Susan S; McCombe, Pamela A PA; Needham, Merrilee M; Ngo, Shyuan T ST; Nicholson, Garth A GA; Pamphlett, Roger R; Rowe, Dominic B DB; Steyn, Frederik J FJ; Williams, Kelly L KL; Mather, Karen A KA; Sachdev, Perminder S PS; Henders, Anjali K AK; Wallace, Leanne L; de Carvalho, Mamede M; Pinto, Susana S; Petri, Susanne S; Weber, Markus M; Rouleau, Guy A GA; Silani, Vincenzo V; Curtis, Charles J CJ; Breen, Gerome G; Glass, Jonathan D JD; Brown, Robert H RH; Landers, John E JE; Shaw, Christopher E CE; Andersen, Peter M PM; Groen, Ewout J N EJN; van Es, Michael A MA; Pasterkamp, R Jeroen RJ; Fan, Dongsheng D; Garton, Fleur C FC; McRae, Allan F AF; Davey Smith, George G; Gaunt, Tom R TR; Eberle, Michael A MA; Mill, Jonathan J; McLaughlin, Russell L RL; Hardiman, Orla O; Kenna, Kevin P KP; Wray, Naomi R NR; Tsai, Ellen E; Runz, Heiko H; Franke, Lude L; Al-Chalabi, Ammar A; Van Damme, Philip P; van den Berg, Leonard H LH; Veldink, Jan H JH
Publication Date: 2021-12

Variant appearance in text: rs34311866
PubMed Link: 34873335
Variant Present in the following documents:
  • Main text
  • 41588_2021_973_MOESM1_ESM.pdf
  • 41588_2021_Article_973.pdf
View BVdb publication page



The Emerging Roles of Autophagy in Human Diseases.

Biomedicines
Lei, Yuchen Y; Klionsky, Daniel J DJ
Publication Date: 2021-11-09

Variant appearance in text: TMEM175: M393T
PubMed Link: 34829881
Variant Present in the following documents:
  • Main text
View BVdb publication page



Replication of chromosomal loci involved in Parkinson's disease: A quantitative synthesis of GWAS.

Toxicology Reports
Rikos, Dimitrios D; Siokas, Vasileios V; Burykina, Tatyana I TI; Drakoulis, Nikolaos N; Dardiotis, Efthimios E; Zintzaras, Elias E
Publication Date: 2021

Variant appearance in text: rs34311866
PubMed Link: 34712594
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: TMEM175: M393T; rs34311866
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: TMEM175: M393T; rs34311866
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
  • mmc2.xlsx, sheet 11
View BVdb publication page



Translocation of TMEM175 Lysosomal Potassium Channel to the Plasma Membrane by Dynasore Compounds.

International Journal Of Molecular Sciences
Pergel, Enikő E; Veres, Irén I; Csigi, Gergely Imre GI; Czirják, Gábor G
Publication Date: 2021-09-29

Variant appearance in text: TMEM175: M393T
PubMed Link: 34638858
Variant Present in the following documents:
  • Main text
  • ijms-22-10515.pdf
View BVdb publication page



Understanding the Potential of Genome Editing in Parkinson's Disease.

International Journal Of Molecular Sciences
Arango, David D; Bittar, Amaury A; Esmeral, Natalia P NP; Ocasión, Camila C; Muñoz-Camargo, Carolina C; Cruz, Juan C JC; Reyes, Luis H LH; Bloch, Natasha I NI
Publication Date: 2021-08-26

Variant appearance in text: TMEM175: M393T
PubMed Link: 34502143
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of low-pass genome sequencing in polygenic risk score calculation for Parkinson's disease.

Human Genomics
Kim, Sungjae S; Shin, Jong-Yeon JY; Kwon, Nak-Jung NJ; Kim, Chang-Uk CU; Kim, Changhoon C; Lee, Chong Sik CS; Seo, Jeong-Sun JS
Publication Date: 2021-08-28

Variant appearance in text: rs34311866
PubMed Link: 34454617
Variant Present in the following documents:
  • Main text
  • 40246_2021_Article_357.pdf
View BVdb publication page



An Emerging Role for Phosphoinositides in the Pathophysiology of Parkinson's Disease.

Journal Of Parkinson'S Disease
Schechter, Meir M; Sharon, Ronit R
Publication Date: 2021

Variant appearance in text: rs34311866
PubMed Link: 34151859
Variant Present in the following documents:
  • Main text
  • jpd-11-jpd212684.pdf
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Imputation and Reanalysis of ExomeChip Data Identifies Novel, Conditional and Joint Genetic Effects on Parkinson's Disease Risk.

Genes
Rodrigo, Linduni M LM; Nyholt, Dale R DR
Publication Date: 2021-05-04

Variant appearance in text: rs34311866
PubMed Link: 34064523
Variant Present in the following documents:
  • Main text
  • genes-12-00689.pdf
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Accelerating Medicines Partnership: Parkinson's Disease. Genetic Resource.

Movement Disorders : Official Journal Of The Movement Disorder Society
Iwaki, Hirotaka H; Leonard, Hampton L HL; Makarious, Mary B MB; Bookman, Matt M; Landin, Barry B; Vismer, David D; Casey, Bradford B; Gibbs, J Raphael JR; Hernandez, Dena G DG; Blauwendraat, Cornelis C; Vitale, Daniel D; Song, Yeajin Y; Kumar, Dinesh D; Dalgard, Clifton L CL; Sadeghi, Mahdiar M; Dong, Xianjun X; Misquitta, Leonie L; Scholz, Sonja W SW; Scherzer, Clemens R CR; Nalls, Mike A MA; Biswas, Shameek S; Singleton, Andrew B AB; , ; , ; ,
Publication Date: 2021-08

Variant appearance in text: TMEM175: M393T; rs34311866
PubMed Link: 33960523
Variant Present in the following documents:
  • Main text
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Variable Effects of PD-Risk Associated SNPs and Variants in Parkinsonism-Associated Genes on Disease Phenotype in a Community-Based Cohort.

Frontiers In Neurology
Markopoulou, Katerina K; Chase, Bruce A BA; Premkumar, Ashvini P AP; Schoneburg, Bernadette B; Kartha, Ninith N; Wei, Jun J; Yu, Hongjie H; Epshteyn, Alexander A; Garduno, Lisette L; Pham, Anna A; Vazquez, Rosa R; Frigerio, Roberta R; Maraganore, Demetrius D
Publication Date: 2021

Variant appearance in text: rs34311866
PubMed Link: 33935957
Variant Present in the following documents:
  • Main text
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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: TMEM175: Met393Thr; rs34311866
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: TMEM175: 1178T>C; M393T; rs34311866
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 3
  • pone.0249324.s003.xlsx, sheet 2
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Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets.

Jama Neurology
Kia, Demis A DA; Zhang, David D; Guelfi, Sebastian S; Manzoni, Claudia C; Hubbard, Leon L; Reynolds, Regina H RH; Botía, Juan J; Ryten, Mina M; Ferrari, Raffaele R; Lewis, Patrick A PA; Williams, Nigel N; Trabzuni, Daniah D; Hardy, John J; Wood, Nicholas W NW; ,
Publication Date: 2021-04-01

Variant appearance in text: rs34311866
PubMed Link: 33523105
Variant Present in the following documents:
  • Main text
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Allele-specific expression of Parkinson's disease susceptibility genes in human brain.

Scientific Reports
Langmyhr, Margrete M; Henriksen, Sandra Pilar SP; Cappelletti, Chiara C; van de Berg, Wilma D J WDJ; Pihlstrøm, Lasse L; Toft, Mathias M
Publication Date: 2021-01-12

Variant appearance in text: rs34311866
PubMed Link: 33436766
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_79990.pdf
  • 41598_2020_79990_MOESM1_ESM.pdf
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When Friendship Turns Sour: Effective Communication Between Mitochondria and Intracellular Organelles in Parkinson's Disease.

Frontiers In Cell And Developmental Biology
Lin, Tsu-Kung TK; Lin, Kai-Jung KJ; Lin, Kai-Lieh KL; Liou, Chia-Wei CW; Chen, Shang-Der SD; Chuang, Yao-Chung YC; Wang, Pei-Wen PW; Chuang, Jiin-Haur JH; Wang, Tzu-Jou TJ
Publication Date: 2020

Variant appearance in text: TMEM175: M393T
PubMed Link: 33330511
Variant Present in the following documents:
  • fcell-08-607392.pdf
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An omics-based strategy using coenzyme Q10 in patients with Parkinson's disease: concept evaluation in a double-blind randomized placebo-controlled parallel group trial.

Neurological Research And Practice
Prasuhn, Jannik J; Brüggemann, Norbert N; Hessler, Nicole N; Berg, Daniela D; Gasser, Thomas T; Brockmann, Kathrin K; Olbrich, Denise D; Ziegler, Andreas A; König, Inke R IR; Klein, Christine C; Kasten, Meike M
Publication Date: 2019

Variant appearance in text: rs34311866
PubMed Link: 33324897
Variant Present in the following documents:
  • Main text
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Precision medicine in Parkinson's disease patients with LRRK2 and GBA risk variants - Let's get even more personal.

Translational Neurodegeneration
von Linstow, Christian U CU; Gan-Or, Ziv Z; Brundin, Patrik P
Publication Date: 2020-10-16

Variant appearance in text: TMEM175: M393T
PubMed Link: 33066808
Variant Present in the following documents:
  • 40035_2020_Article_218.pdf
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The Parkinson's Disease Genome-Wide Association Study Locus Browser.

Movement Disorders : Official Journal Of The Movement Disorder Society
Grenn, Francis P FP; Kim, Jonggeol J JJ; Makarious, Mary B MB; Iwaki, Hirotaka H; Illarionova, Anastasia A; Brolin, Kajsa K; Kluss, Jillian H JH; Schumacher-Schuh, Artur F AF; Leonard, Hampton H; Faghri, Faraz F; Billingsley, Kimberley K; Krohn, Lynne L; Hall, Ashley A; Diez-Fairen, Monica M; Periñán, Maria Teresa MT; Foo, Jia Nee JN; Sandor, Cynthia C; Webber, Caleb C; Fiske, Brian K BK; Gibbs, J Raphael JR; Nalls, Mike A MA; Singleton, Andrew B AB; Bandres-Ciga, Sara S; Reed, Xylena X; Blauwendraat, Cornelis C; ,
Publication Date: 2020-11

Variant appearance in text: TMEM175: M393T
PubMed Link: 32864809
Variant Present in the following documents:
  • MDS-35-2056.pdf
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Dream enactment behavior: review for the clinician.

Journal Of Clinical Sleep Medicine : Jcsm : Official Publication Of The American Academy Of Sleep Medicine
Baltzan, Marc M; Yao, Chun C; Rizzo, Dorrie D; Postuma, Ron R
Publication Date: 2020-11-15

Variant appearance in text: TMEM175: M393T
PubMed Link: 32741444
Variant Present in the following documents:
  • Main text
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Prediction of age at onset in Parkinson's disease using objective specific neuroimaging genetics based on a sparse canonical correlation analysis.

Scientific Reports
Won, Ji Hye JH; Kim, Mansu M; Youn, Jinyoung J; Park, Hyunjin H
Publication Date: 2020-07-15

Variant appearance in text: rs34311866
PubMed Link: 32669683
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_68301.pdf
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Gating and selectivity mechanisms for the lysosomal K+ channel TMEM175.

Elife
Oh, SeCheol S; Paknejad, Navid N; Hite, Richard K RK
Publication Date: 2020-03-31

Variant appearance in text: TMEM175: m393t
PubMed Link: 32228865
Variant Present in the following documents:
  • elife-53430.pdf
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Fine-Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies.

Annals Of Neurology
Krohn, Lynne L; Wu, Richard Y J RYJ; Heilbron, Karl K; Ruskey, Jennifer A JA; Laurent, Sandra B SB; Blauwendraat, Cornelis C; Alam, Armaghan A; Arnulf, Isabelle I; Hu, Michele T M MTM; Dauvilliers, Yves Y; Högl, Birgit B; Toft, Mathias M; Bjørnarå, Kari Anne KA; Stefani, Ambra A; Holzknecht, Evi E; Monaca, Christelle Charley CC; Abril, Beatriz B; Plazzi, Giuseppe G; Antelmi, Elena E; Ferini-Strambi, Luigi L; Young, Peter P; Heidbreder, Anna A; Cochen De Cock, Valérie V; Mollenhauer, Brit B; Sixel-Döring, Friederike F; Trenkwalder, Claudia C; Sonka, Karel K; Kemlink, David D; Figorilli, Michela M; Puligheddu, Monica M; Dijkstra, Femke F; Viaene, Mineke M; Oertel, Wolfang W; Toffoli, Marco M; Gigli, Gian Luigi GL; Valente, Mariarosaria M; Gagnon, Jean-François JF; Nalls, Mike A MA; Singleton, Andrew B AB; , ; Desautels, Alex A; Montplaisir, Jacques Y JY; Cannon, Paul P; Ross, Owen A OA; Boeve, Bradley F BF; Dupré, Nicolas N; Fon, Edward A EA; Postuma, Ronald B RB; Pihlstrøm, Lasse L; Rouleau, Guy A GA; Gan-Or, Ziv Z
Publication Date: 2020-04

Variant appearance in text: TMEM175: M393T
PubMed Link: 31976583
Variant Present in the following documents:
  • Main text
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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02

Variant appearance in text: TMEM175: Met393Thr
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 8
  • Supplementary_Data2.xlsx, sheet 9
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