PMC Links for GEO Profiles (Select 109432668) - PMC

Select item 107439991.

DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients

Anna Skorczyk-Werner, Katarzyna Tońska, Aleksandra Maciejczuk, Katarzyna Nowomiejska, Magdalena Korwin, Monika Ołdak, Anna Wawrocka, Maciej R. Krawczyński

Int J Mol Sci. 2023 Dec; 24(24): 17496. Published online 2023 Dec 15. doi: 10.3390/ijms242417496

PMCID:: PMC10743999

Abstract Article PDF–968K

Select item 99501832.

CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment

Daphne J. Smits, Jordy Dekker, Rachel Schot, Brahim Tabarki, Amal Alhashem, Jeroen A. A. Demmers, Dick H. W. Dekkers, Antonio Romito, Peter J. van der Spek, Tjakko J. van Ham, Aida M. Bertoli-Avella, Grazia M. S. Mancini

Hum Genet. 2023; 142(3): 379–397. Published online 2022 Dec 20. doi: 10.1007/s00439-022-02511-3

PMCID:: PMC9950183

Abstract Article PDF–2.4M

Select item 95540853.

DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber’s hereditary optic neuropathy and optic atrophy

Sinja Kieninger, Ting Xiao, Nicole Weisschuh, Susanne Kohl, Klaus Rüther, Peter Michael Kroisel, Tobias Brockmann, Steffi Knappe, Ulrich Kellner, Wolf Lagrèze, Pascale Mazzola, Tobias B Haack, Bernd Wissinger, Felix Tonagel

J Med Genet. 2022 Oct; 59(10): 1027–1034. Published online 2022 Jan 28. doi: 10.1136/jmedgenet-2021-108235

PMCID:: PMC9554085

Abstract Article PDF–1.3M

Select item 81650304.

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

Abstract Article PDF–2.2M

Select item 79546005.

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

Sarah L. Stenton, Natalia L. Sheremet, Claudia B. Catarino, Natalia A. Andreeva, Zahra Assouline, Piero Barboni, Ortal Barel, Riccardo Berutti, Igor Bychkov, Leonardo Caporali, Mariantonietta Capristo, Michele Carbonelli, Maria L. Cascavilla, Peter Charbel Issa, Peter Freisinger, Sylvie Gerber, Daniele Ghezzi, Elisabeth Graf, Juliana Heidler, Maja Hempel, Elise Heon, Yulya S. Itkis, Elisheva Javasky, Josseline Kaplan, Robert Kopajtich, Cornelia Kornblum, Reka Kovacs-Nagy, Tatiana D. Krylova, Wolfram S. Kunz, Chiara La Morgia, Costanza Lamperti, Christina Ludwig, Pedro F. Malacarne, Alessandra Maresca, Johannes A. Mayr, Jana Meisterknecht, Tatiana A. Nevinitsyna, Flavia Palombo, Ben Pode-Shakked, Maria S. Shmelkova, Tim M. Strom, Francesca Tagliavini, Michal Tzadok, Amelie T. van der Ven, Catherine Vignal-Clermont, Matias Wagner, Ekaterina Y. Zakharova, Nino V. Zhorzholadze, Jean-Michel Rozet, Valerio Carelli, Polina G. Tsygankova, Thomas Klopstock, Ilka Wittig, Holger Prokisch

J Clin Invest. 2021 Mar 15; 131(6): e138267. Published online 2021 Mar 15. doi: 10.1172/JCI138267

PMCID:: PMC7954600

Abstract Article PDF–5.9M

Select item 71699836.

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 64594207.

The 7q11.23 Protein DNAJC30 is an Auxiliary Component of ATP Synthase and Links Mitochondria to Brain Development

Andrew T. N. Tebbenkamp, Luis Varela, Jinmyung Choi, Miguel I. Paredes, Alice M. Giani, Jae Eun Song, Matija Sestan-Pesa, Daniel Franjic, André M. M. Sousa, Zhong-Wu Liu, Mingfeng Li, Candace Bichsel, Marco Koch, Klara Szigeti-Buck, Fuchen Liu, Zhuo Li, Yuka I. Kawasawa, Constantinos D. Paspalas, Yann S. Mineur, Paolo Prontera, Giuseppe Merla, Marina R. Picciotto, Amy F. T. Arnsten, Tamas L. Horvath, Nenad Sestan

Cell. Author manuscript; available in PMC 2019 Apr 11.

Published in final edited form as: Cell. 2018 Nov 1; 175(4): 1088–1104.e23. doi: 10.1016/j.cell.2018.09.014

PMCID:: PMC6459420

Abstract Article PDF–3.5M

Select item 58269268.

VIRMA mediates preferential m⁶A mRNA methylation in 3′UTR and near stop codon and associates with alternative polyadenylation

Yanan Yue, Jun Liu, Xiaolong Cui, Jie Cao, Guanzheng Luo, Zezhou Zhang, Tao Cheng, Minsong Gao, Xiao Shu, Honghui Ma, Fengqin Wang, Xinxia Wang, Bin Shen, Yizhen Wang, Xinhua Feng, Chuan He, Jianzhao Liu

Cell Discov. 2018; 4: 10. Published online 2018 Feb 27. doi: 10.1038/s41421-018-0019-0

PMCID:: PMC5826926

Abstract Article PDF–2.3M

Select item 55316119.

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 537173010.

Systematic protein–protein interaction mapping for clinically relevant human GPCRs

Kate Sokolina, Saranya Kittanakom, Jamie Snider, Max Kotlyar, Pascal Maurice, Jorge Gandía, Abla Benleulmi‐Chaachoua, Kenjiro Tadagaki, Atsuro Oishi, Victoria Wong, Ramy H Malty, Viktor Deineko, Hiroyuki Aoki, Shahreen Amin, Zhong Yao, Xavier Morató, David Otasek, Hiroyuki Kobayashi, Javier Menendez, Daniel Auerbach, Stephane Angers, Natasa Pržulj, Michel Bouvier, Mohan Babu, Francisco Ciruela, Ralf Jockers, Igor Jurisica, Igor Stagljar

Mol Syst Biol. 2017 Mar; 13(3): 918. Published online 2017 Mar 15. doi: 10.15252/msb.20167430

PMCID:: PMC5371730

Abstract Article PDF–4.1M

Select item 526093911.

Gsk3β and Tomm20 are substrates of the SCFFbxo7/PARK15 ubiquitin ligase associated with Parkinson's disease

Felipe Roberti Teixeira, Suzanne J. Randle, Shachi P. Patel, Tycho E.T. Mevissen, Grasilda Zenkeviciute, Tie Koide, David Komander, Heike Laman

Biochem J. 2016 Oct 15; 473(20): 3563–3580. Prepublished online 2016 Aug 8. Published online 2016 Oct 11. doi: 10.1042/BCJ20160387

PMCID:: PMC5260939

Abstract Article PDF–1.1M

Select item 501331512.

Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family

Xu Li, Kim My Tran, Kathryn E. Aziz, Alexey V. Sorokin, Junjie Chen, Wenqi Wang

Mol Cell Proteomics. 2016 Sep; 15(9): 3030–3044. Published online 2016 Jul 18. doi: 10.1074/mcp.M116.060277

PMCID:: PMC5013315

Abstract Article PDF–3.2M

Select item 464794113.

hORFeome v3.1: A resource of human open reading frames representing over 10,000 human genes

Philippe Lamesch, Ning Li, Stuart Milstein, Changyu Fan, Tong Hao, Gabor Szabo, Zhenjun Hu, Kavitha Venkatesan, Graeme Bethel, Paul Martin, Jane Rogers, Stephanie Lawlor, Stuart McLaren, Amélie Dricot, Heather Borick, Michael E. Cusick, Jean Vandenhaute, Ian Dunham, David E. Hill, Marc Vidal

Genomics. 2007 Mar; 89(3): 307–315. doi: 10.1016/j.ygeno.2006.11.012

PMCID:: PMC4647941

Abstract Article

Select item 461721114.

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 400459815.

Systematic identification of pathological lamin A interactors

Travis A. Dittmer, Nidhi Sahni, Nard Kubben, David E. Hill, Marc Vidal, Rebecca C. Burgess, Vassilis Roukos, Tom Misteli

Mol Biol Cell. 2014 May 1; 25(9): 1493–1510. doi: 10.1091/mbc.E14-02-0733

PMCID:: PMC4004598

Abstract Article PDF–3.5M

Select item 318838816.

Leveraging the power of next-generation sequencing to generate interactome datasets

Haiyuan Yu, Leah Tardivo, Stanley Tam, Evan Weiner, Fana Gebreab, Changyu Fan, Nenad Svrzikapa, Tomoko Hirozane-Kishikawa, Edward Rietman, Xinping Yang, Julie Sahalie, Kourosh Salehi-Ashtiani, Tong Hao, Michael E. Cusick, David E. Hill, Frederick P. Roth, Pascal Braun, Marc Vidal

Nat Methods. Author manuscript; available in PMC 2011 Dec 1.

Published in final edited form as: Nat Methods. 2011 Jun; 8(6): 478–480. Published online 2011 Apr 24. doi: 10.1038/nmeth.1597

PMCID:: PMC3188388

Abstract Article PDF–932K

Select item 294347617.

Genetic Variants in Nuclear-Encoded Mitochondrial Genes Influence AIDS Progression

Sher L. Hendrickson, James A. Lautenberger, Leslie Wei Chinn, Michael Malasky, Efe Sezgin, Lawrence A. Kingsley, James J. Goedert, Gregory D. Kirk, Edward D. Gomperts, Susan P. Buchbinder, Jennifer L. Troyer, Stephen J. O'Brien

PLoS One. 2010; 5(9): e12862. Published online 2010 Sep 21. doi: 10.1371/journal.pone.0012862