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Items: 1 to 20 of 51

1.
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis
Arthur Stefanski, Eduardo Pérez-Palma, Tobias Brünger, Ludovica Montanucci, Cornelius Gati, Chiara Klöckner, Katrine M Johannesen, Kimberly Goodspeed, Marie Macnee, Alexander T Deng, Ángel Aledo-Serrano, Artem Borovikov, Maina Kava, Arjan M Bouman, M J Hajianpour, Deb K Pal, Marc Engelen, Eveline E O Hagebeuk, Marwan Shinawi, Alexis R Heidlebaugh, Kathryn Oetjens, Trevor L Hoffman, Pasquale Striano, Amanda S Freed, Line Futtrup, Thomas Balslev, Anna Abulí, Leslie Danvoye, Damien Lederer, Tugce Balci, Maryam Nabavi Nouri, Elizabeth Butler, Sarah Drewes, Kalene van Engelen, Katherine B Howell, Jean Khoury, Patrick May, Marena Trinidad, Steven Froelich, Johannes R Lemke, Jacob Tiller, Amber N Freed, Jing-Qiong Kang, Arthur Wuster, Rikke S Møller, Dennis Lal
Brain. 2023 Dec; 146(12): 5198–5208. Published online 2023 Aug 30. doi: 10.1093/brain/awad292
PMCID:
PMC10689929
AbstractArticlePDF–574K
2.
Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1
Dolores Piniella, Ania Canseco, Silvia Vidal, Clara Xiol, Aránzazu Díaz de Bustamante, Itxaso Martí-Carrera, Judith Armstrong, Ugo Bastolla, Francisco Zafra
Int J Mol Sci. 2023 Jan; 24(2): 955. Published online 2023 Jan 4. doi: 10.3390/ijms24020955
PMCID:
PMC9862756
AbstractArticlePDF–21M
3.
Astrocytic GABA transporter 1 deficit in novel SLC6A1 variants mediated epilepsy: Connected from protein destabilization to seizures in mice and humans
Felicia Mermer, Sarah Poliquin, Shuizhen Zhou, Xiaodong Wang, Yifeng Ding, Fei Yin, Wangzhen Shen, Juexin Wang, Kathryn Rigsby, Dong Xu, Taralynn Mack, Gerald Nwosu, Carson Flamm, Matthew Stein, Jing-Qiong Kang
Neurobiol Dis. Author manuscript; available in PMC 2022 Oct 1.
Published in final edited form as: Neurobiol Dis. 2022 Oct 1; 172: 105810. Published online 2022 Jul 14. doi: 10.1016/j.nbd.2022.105810
PMCID:
PMC9472560
AbstractArticlePDF–2.7M
4.
Structural basis of GABA reuptake inhibition
Zenia Motiwala, Nanda Gowtham Aduri, Hamidreza Shaye, Gye Won Han, Jordy Homing Lam, Vsevolod Katritch, Vadim Cherezov, Cornelius Gati
Nature. Author manuscript; available in PMC 2022 Aug 22.
Published in final edited form as: Nature. 2022 Jun; 606(7915): 820–826. Published online 2022 Jun 8. doi: 10.1038/s41586-022-04814-x
Correction in:
Nature. 2022 Jul 15
PMCID:
PMC9394549
AbstractArticlePDF–4.1M
5.
Chr21 protein–protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer’s disease
Julia Viard, Yann Loe-Mie, Rachel Daudin, Malik Khelfaoui, Christine Plancon, Anne Boland, Francisco Tejedor, Richard L Huganir, Eunjoon Kim, Makoto Kinoshita, Guofa Liu, Volker Haucke, Thomas Moncion, Eugene Yu, Valérie Hindie, Henri Bléhaut, Clotilde Mircher, Yann Herault, Jean-François Deleuze, Jean-Christophe Rain, Michel Simonneau, Aude-Marie Lepagnol-Bestel
Life Sci Alliance. 2022 Dec; 5(12): e202101205. Published online 2022 Aug 1. doi: 10.26508/lsa.202101205
PMCID:
PMC9348576
AbstractArticlePDF–3.0M
6.
New Genetic Variants in CYP2B6 and SLC6A Support the Role of Oxidative Stress in Familial Ménière’s Disease
Sini Skarp, Johanna Korvala, Jouko Kotimäki, Martti Sorri, Minna Männikkö, Elina Hietikko
Genes (Basel) 2022 Jun; 13(6): 998. Published online 2022 Jun 1. doi: 10.3390/genes13060998
PMCID:
PMC9222295
AbstractArticlePDF–921K
7.
Genetic mosaicism, intrafamilial phenotypic heterogeneity, and molecular defects of a novel missense SLC6A1 mutation associated with epilepsy and ADHD
Sarah Poliquin, Inna Hughes, Wangzhen Shen, Felicia Mermer, Juexin Wang, Taralynn Mack, Dong Xu, Jing-Qiong Kang
Exp Neurol. Author manuscript; available in PMC 2022 May 18.
Published in final edited form as: Exp Neurol. 2021 Aug; 342: 113723. Published online 2021 May 5. doi: 10.1016/j.expneurol.2021.113723
PMCID:
PMC9116449
AbstractArticlePDF–1.0M
8.
Common molecular mechanisms of SLC6A1 variant-mediated neurodevelopmental disorders in astrocytes and neurons
Felicia Mermer, Sarah Poliquin, Kathryn Rigsby, Anuj Rastogi, Wangzhen Shen, Alejandra Romero-Morales, Gerald Nwosu, Patrick McGrath, Scott Demerast, Jason Aoto, Ganna Bilousova, Dennis Lal, Vivian Gama, Jing-Qiong Kang
Brain. 2021 Aug; 144(8): 2499–2512. Published online 2021 May 24. doi: 10.1093/brain/awab207
PMCID:
PMC8418336
AbstractArticlePDF–1.6M
9.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
10.
Current knowledge of SLC6A1-related neurodevelopmental disorders
Kimberly Goodspeed, Eduardo Pérez-Palma, Sumaiya Iqbal, Dominique Cooper, Annalisa Scimemi, Katrine M Johannesen, Arthur Stefanski, Scott Demarest, Katherine L Helbig, Jingqiong Kang, Frances C Shaffo, Brandon Prentice, Catherine A Brownstein, Byungchan Lim, Ingo Helbig, Emily De Los Reyes, Dianalee McKnight, Vincenzo Crunelli, Arthur J Campbell, Rikke S Møller, Amber Freed, Dennis Lal
Brain Commun. 2020; 2(2): fcaa170. Published online 2020 Oct 13. doi: 10.1093/braincomms/fcaa170
PMCID:
PMC7677605
AbstractArticlePDF–1.1M
11.
Molecular Dynamic Simulations to Probe Stereoselectivity of Tiagabine Binding with Human GAT1
Sadia Zafar, Ishrat Jabeen
Molecules. 2020 Oct; 25(20): 4745. Published online 2020 Oct 16. doi: 10.3390/molecules25204745
PMCID:
PMC7587590
AbstractArticlePDF–4.6M
12.
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies
Peter D. Galer, Shiva Ganesan, David Lewis-Smith, Sarah E. McKeown, Manuela Pendziwiat, Katherine L. Helbig, Colin A. Ellis, Annika Rademacher, Lacey Smith, Annapurna Poduri, Simone Seiffert, Sarah von Spiczak, Hiltrud Muhle, Andreas van Baalen, NCEE Study Group, EPGP Investigators, EuroEPINOMICS-RES Consortium, Genomics Research and Innovation Network, Rhys H. Thomas, Roland Krause, Yvonne Weber, Ingo Helbig
Am J Hum Genet. 2020 Oct 1; 107(4): 683–697. Published online 2020 Aug 26. doi: 10.1016/j.ajhg.2020.08.003
PMCID:
PMC7536581
AbstractArticlePDF–3.2M
13.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
14.
Overexpression of SLC6A1 associates with drug resistance and poor prognosis in prostate cancer
Chaojiang Chen, Zhiduan Cai, Yangjia Zhuo, Ming Xi, Zhuoyuan Lin, Funeng Jiang, Zezhen Liu, Yueping Wan, Yu Zheng, Jianxin Li, Xing Zhou, Jianguo Zhu, Weide Zhong
BMC Cancer. 2020; 20: 289. Published online 2020 Apr 6. doi: 10.1186/s12885-020-06776-7
PMCID:
PMC7137497
AbstractArticlePDF–2.3M
15.
De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia
Elliott Rees, Jun Han, Joanne Morgan, Noa Carrera, Valentina Escott-Price, Andrew J. Pocklington, Madeleine Duffield, Lynsey Hall, Sophie E. Legge, Antonio F. Pardiñas, Alexander L. Richards, Julian Roth, Tatyana Lezheiko, Nikolay Kondratyev, Vasilii Kaleda, Vera Golimbet, Mara Parellada, Javier González-Peñas, Celso Arango, GROUP Investigators, Micha Gawlik, George Kirov, James T. R. Walters, Peter Holmans, Michael C. O’Donovan, Michael J. Owen
Nat Neurosci. Author manuscript; available in PMC 2020 Jul 13.
Published in final edited form as: Nat Neurosci. 2020 Feb; 23(2): 179–184. Published online 2020 Jan 13. doi: 10.1038/s41593-019-0565-2
PMCID:
PMC7007300
AbstractArticlePDF–628K
16.
Genome-wide CRISPR screening reveals genetic modifiers of mutant EGFR dependence in human NSCLC
Hao Zeng, Johnny Castillo-Cabrera, Mika Manser, Bo Lu, Zinger Yang, Vaik Strande, Damien Begue, Raffaella Zamponi, Shumei Qiu, Frederic Sigoillot, Qiong Wang, Alicia Lindeman, John S Reece-Hoyes, Carsten Russ, Debora Bonenfant, Xiaomo Jiang, Youzhen Wang, Feng Cong
eLife. 2019; 8: e50223. Published online 2019 Nov 19. doi: 10.7554/eLife.50223
PMCID:
PMC6927754
AbstractArticlePDF–5.1M
17.
Protein Kinase C Regulates the Interaction between a GABA Transporter and Syntaxin 1A
Matthew L. Beckman, Eve M. Bernstein, Michael W. Quick
J Neurosci. 1998 Aug 15; 18(16): 6103–6112. doi: 10.1523/JNEUROSCI.18-16-06103.1998
PMCID:
PMC6793212
AbstractArticlePDF–275K
18.
Identification of a Smad4/YY1-Recognizedand BMP2-Responsive Transcriptional RegulatoryModule in the Promoter of Mouse GABA Transporter Subtype I (Gat1) Gene
Minghui Yao, Gang Niu, Zhejin Sheng, Zhugang Wang, Jian Fei
J Neurosci. 2010 Mar 17; 30(11): 4062–4071. doi: 10.1523/JNEUROSCI.2964-09.2010
PMCID:
PMC6632294
AbstractArticlePDF–3.8M
19.
Blood-Brain Barrier: From Physiology to Disease and Back
Melanie D. Sweeney, Zhen Zhao, Axel Montagne, Amy R. Nelson, Berislav V. Zlokovic
Physiol Rev. 2019 Jan 1; 99(1): 21–78. Published online 2018 Oct 3. doi: 10.1152/physrev.00050.2017
PMCID:
PMC6335099
AbstractArticle
20.
LuTHy: a double‐readout bioluminescence‐based two‐hybrid technology for quantitative mapping of protein–protein interactions in mammalian cells
Philipp Trepte, Sabrina Kruse, Simona Kostova, Sheila Hoffmann, Alexander Buntru, Anne Tempelmeier, Christopher Secker, Lisa Diez, Aline Schulz, Konrad Klockmeier, Martina Zenkner, Sabrina Golusik, Kirstin Rau, Sigrid Schnoegl, Craig C Garner, Erich E Wanker
Mol Syst Biol. 2018 Jul; 14(7): e8071. Published online 2018 Jul 11. doi: 10.15252/msb.20178071
PMCID:
PMC6039870
AbstractArticlePDF–2.1M

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