PMC Links for Gene (Select 112755) - PMC

Select item 65111021.

Clinical spectrum of STX1B-related epileptic disorders

Stefan Wolking, Patrick May, Davide Mei, Rikke S. Møller, Simona Balestrini, Katherine L. Helbig, Cecilia Desmettre Altuzarra, Nicolas Chatron, Charu Kaiwar, Katharina Stöhr, Peter Widdess-Walsh, Bryce A. Mendelsohn, Adam Numis, Maria R. Cilio, Wim Van Paesschen, Lene L. Svendsen, Stephanie Oates, Elaine Hughes, Sushma Goyal, Kathleen Brown, Margarita Sifuentes Saenz, Thomas Dorn, Hiltrud Muhle, Alistair T. Pagnamenta, Dimitris V. Vavoulis, Samantha J.L. Knight, Jenny C. Taylor, Maria Paola Canevini, Francesca Darra, Ralitza H. Gavrilova, Zöe Powis, Shan Tang, Justus Marquetand, Martin Armstrong, Duncan McHale, Eric W. Klee, Gerhard J. Kluger, Daniel H. Lowenstein, Sarah Weckhuysen, Deb K. Pal, Ingo Helbig, Renzo Guerrini, Rhys H. Thomas, Mark I. Rees, Gaetan Lesca, Sanjay M. Sisodiya, Yvonne G. Weber, Dennis Lal, Carla Marini, Holger Lerche, Julian Schubert

Neurology. 2019 Mar 12; 92(11): e1238–e1249. doi: 10.1212/WNL.0000000000007089

PMCID:: PMC6511102

Abstract Article PDF–648K

Select item 55772692.

Massive transcriptome sequencing of human spinal cord tissues provides new insights into motor neuron degeneration in ALS

Anna Maria D’Erchia, Angela Gallo, Caterina Manzari, Susanna Raho, David S. Horner, Matteo Chiara, Alessio Valletti, Italia Aiello, Francesca Mastropasqua, Loredana Ciaccia, Franco Locatelli, Francesco Pisani, Grazia Paola Nicchia, Maria Svelto, Graziano Pesole, Ernesto Picardi

Sci Rep. 2017; 7: 10046. Published online 2017 Aug 30. doi: 10.1038/s41598-017-10488-7

PMCID:: PMC5577269

Abstract Article PDF–2.6M

Select item 42578663.

High-density Genotyping of Immune Loci in Kawasaki Disease and IVIG Treatment Response in European-American Case-parent Trio Study

Aditi Shendre, Howard W. Wiener, Degui Zhi, Ana I Vazquez, Michael A. Portman, Sadeep Shrestha

Genes Immun. Author manuscript; available in PMC 2015 Jun 1.

Published in final edited form as: Genes Immun. 2014 Dec; 15(8): 534–542. Published online 2014 Aug 7. doi: 10.1038/gene.2014.47

PMCID:: PMC4257866

Abstract Article PDF–784K

Select item 85756854.

Syntaxin-1 and Insulinoma-Associated Protein 1 Expression in Breast Neoplasms with Neuroendocrine Features

Sándor Turkevi-Nagy, Ágnes Báthori, János Böcz, László Krenács, Gábor Cserni, Bence Kővári

Pathol Oncol Res. 2021; 27: 1610039. Published online 2021 Oct 26. doi: 10.3389/pore.2021.1610039

PMCID:: PMC8575685

Abstract Article PDF–2.4M

Select item 47608885.

Impact of GGCX, STX1B and FPGS Polymorphisms on Warfarin Dose Requirements in European‐Americans and Egyptians

IS Hamadeh, MH Shahin, SM Lima, F Oliveira, L Wilson, SI Khalifa, TY Langaee, RM Cooper‐DeHoff, LH Cavallari, JA Johnson

Clin Transl Sci. 2016 Feb; 9(1): 36–42. Published online 2016 Jan 19. doi: 10.1111/cts.12385

PMCID:: PMC4760888

Abstract Article PDF–488K

Select item 108832806.

Systematic discovery of protein interaction interfaces using AlphaFold and experimental validation

Chop Yan Lee, Dalmira Hubrich, Julia K Varga, Christian Schäfer, Mareen Welzel, Eric Schumbera, Milena Djokic, Joelle M Strom, Jonas Schönfeld, Johanna L Geist, Feyza Polat, Toby J Gibson, Claudia Isabelle Keller Valsecchi, Manjeet Kumar, Ora Schueler-Furman, Katja Luck

Mol Syst Biol. 2024 Feb; 20(2): 75–97. Published online 2024 Jan 15. doi: 10.1038/s44320-023-00005-6

PMCID:: PMC10883280

Abstract Article PDF–3.4M

Select item 41466737.

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson’s disease

Mike A Nalls, Nathan Pankratz, Christina M. Lill, Chuong B Do, Dena G. Hernandez, Mohamad Saad, Anita L. DeStefano, Eleanna Kara, Jose Bras, Manu Sharma, Claudia Schulte, Margaux F. Keller, Sampath Arepalli, Christopher Letson, Connor Edsall, Hreinn Stefansson, Xinmin Liu, Hannah Pliner, Joseph H. Lee, Rong Cheng, International Parkinson’s Disease Genomics Consortium (IPDGC), Parkinson’s Study Group (PSG) Parkinson’s Research: The Organized GENetics Initiative (PROGENI), 23andMe, Gene PD, NeuroGenetics Research Consortium (NGRC), Hussman Institute of Human Genomics (HIHG), The Ashkenazi Jewish Dataset Investigator, Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE), North American Brain Expression Consortium (NABEC), United Kingdom Brain Expression Consortium (UKBEC), Greek Parkinson’s Disease Consortium, Alzheimer Genetic Analysis Group, M. Arfan Ikram, John P.A. Ioannidis, Georgios M. Hadjigeorgiou, Joshua C. Bis, Maria Martinez, Joel S. Perlmutter, Alison Goate, Karen Marder, Brian Fiske, Margaret Sutherland, Georgia Xiromerisiou, Richard H. Myers, Lorraine N Clark, Kari Stefansson, John A. Hardy, Peter Heutink, Honglei Chen, Nicholas W. Wood, Henry Houlden, Haydeh Payami, Alexis Brice, William K Scott, Thomas Gasser, Lars Bertram, Nicholas Eriksson, Tatiana Foroud, Andrew B. Singleton

Nat Genet. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: Nat Genet. 2014 Sep; 46(9): 989–993. Published online 2014 Jul 27. doi: 10.1038/ng.3043

PMCID:: PMC4146673

Abstract Article PDF–487K

Select item 40681588.

VAPB/ALS8 interacts with FFAT-like proteins including the p97 cofactor FAF1 and the ASNA1 ATPase

Yorann Baron, Patrick G Pedrioli, Kshitiz Tyagi, Clare Johnson, Nicola T Wood, Daniel Fountaine, Melanie Wightman, Gabriela Alexandru

BMC Biol. 2014; 12: 39. Published online 2014 May 29. doi: 10.1186/1741-7007-12-39

PMCID:: PMC4068158

Abstract Article PDF–2.8M

Select item 18663529.

Huntingtin Interacting Proteins Are Genetic Modifiers of Neurodegeneration

Linda S Kaltenbach, Eliana Romero, Robert R Becklin, Rakesh Chettier, Russell Bell, Amit Phansalkar, Andrew Strand, Cameron Torcassi, Justin Savage, Anthony Hurlburt, Guang-Ho Cha, Lubna Ukani, Cindy Lou Chepanoske, Yuejun Zhen, Sudhir Sahasrabudhe, James Olson, Cornelia Kurschner, Lisa M Ellerby, John M Peltier, Juan Botas, Robert E Hughes

PLoS Genet. 2007 May; 3(5): e82. Published online 2007 May 11. doi: 10.1371/journal.pgen.0030082

PMCID:: PMC1866352

Abstract Article PDF–1.2M

Select item 885704910.

Tau interactome maps synaptic and mitochondrial processes associated with neurodegeneration

Tara E. Tracy, Jesus Madero-Pérez, Danielle L. Swaney, Timothy S. Chang, Michelle Moritz, Csaba Konrad, Michael E. Ward, Erica Stevenson, Ruth Hüttenhain, Grant Kauwe, Maria Mercedes, Lauren Sweetland-Martin, Xu Chen, Sue-Ann Mok, Man Ying Wong, Maria Telpoukhovskaia, Sang-Won Min, Chao Wang, Peter Dongmin Sohn, Jordie Martin, Yungui Zhou, Wenjie Luo, John Q. Trojanowski, Virginia M.Y. Lee, Shiaoching Gong, Giovanni Manfredi, Giovanni Coppola, Nevan J. Krogan, Daniel H. Geschwind, Li Gan

Cell. Author manuscript; available in PMC 2022 Feb 19.

Published in final edited form as: Cell. 2022 Feb 17; 185(4): 712–728.e14. Published online 2022 Jan 20. doi: 10.1016/j.cell.2021.12.041

PMCID:: PMC8857049

Abstract Article PDF–3.6M

Select item 677813711.

The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis

Luisa Capalbo, Zuni I. Bassi, Marco Geymonat, Sofia Todesca, Liviu Copoiu, Anton J. Enright, Giuliano Callaini, Maria Giovanna Riparbelli, Lu Yu, Jyoti S. Choudhary, Enrico Ferrero, Sally Wheatley, Max E. Douglas, Masanori Mishima, Pier Paolo D’Avino

Nat Commun. 2019; 10: 4513. Published online 2019 Oct 4. doi: 10.1038/s41467-019-12507-9

PMCID:: PMC6778137

Abstract Article PDF–7.8M

Select item 461721112.

The BioPlex Network: A Systematic Exploration of the Human Interactome

Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2016 Jul 16.

Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043

PMCID:: PMC4617211

Abstract Article PDF–2.2M

Select item 716998313.

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

Abstract Article PDF–5.4M

Select item 553161114.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 816503015.

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