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Select item 95639361.

A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families

Mazhor Aldosary, Maysoon Alsagob, Hanan AlQudairy, Ana C. González-Álvarez, Stefan T. Arold, Mohammad Anas Dababo, Omar A. Alharbi, Rawan Almass, AlBandary AlBakheet, Dalia AlSarar, Alya Qari, Mysoon M. Al-Ansari, Monika Oláhová, Saif A. Al-Shahrani, Moeenaldeen AlSayed, Dilek Colak, Robert W. Taylor, Mohammed AlOwain, Namik Kaya

Cells. 2022 Oct; 11(19): 3154. Published online 2022 Oct 7. doi: 10.3390/cells11193154

PMCID:: PMC9563936

Abstract Article PDF–3.5M

Select item 83885612.

Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with Optic Atrophy, Global Developmental Delay, Epilepsy, Ataxia, and Choreoathetosis

Alissa M. D’Gama, Eleina England, Jill A. Madden, Jiahai Shi, Katherine R. Chao, Monica H. Wojcik, Alcy R. Torres, Wen-Hann Tan, Gerard T. Berry, Sanjay P. Prabhu, Pankaj B. Agrawal

Am J Med Genet A. Author manuscript; available in PMC 2022 Jan 1.

Published in final edited form as: Am J Med Genet A. 2021 Jan; 185(1): 203–207. Published online 2020 Oct 9. doi: 10.1002/ajmg.a.61910

PMCID:: PMC8388561

Abstract Article PDF–268K

Select item 82975373.

A ROD–CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY

Isabelle Meunier, Béatrice Bocquet, Majida Charif, Claire-Marie Dhaenens, Gael Manes, Patrizia Amati-Bonneau, Agathe Roubertie, Xavier Zanlonghi, Guy Lenaers

Retina. 2021 Aug; 41(8): 1771–1779. Published online 2020 Dec 14. doi: 10.1097/IAE.0000000000003054

PMCID:: PMC8297537

Abstract Article PDF–623K

Select item 58334894.

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

Majida Charif, Alessia Nasca, Kyle Thompson, Sylvie Gerber, Christine Makowski, Neda Mazaheri, Céline Bris, David Goudenège, Andrea Legati, Reza Maroofian, Gholamreza Shariati, Eleonora Lamantea, Sila Hopton, Anna Ardissone, Isabella Moroni, Melania Giannotta, Corinna Siegel, Tim M. Strom, Holger Prokisch, Catherine Vignal-Clermont, Sabine Derrien, Xavier Zanlonghi, Josseline Kaplan, Christian P. Hamel, Stephanie Leruez, Vincent Procaccio, Dominique Bonneau, Pascal Reynier, Frances E. White, Steven A. Hardy, Inês A. Barbosa, Michael A. Simpson, Roshni Vara, Yaumara Perdomo Trujillo, Hamind Galehdari, Charu Deshpande, Tobias B. Haack, Jean-Michel Rozet, Robert W. Taylor, Daniele Ghezzi, Patrizia Amati-Bonneau, Guy Lenaers

JAMA Neurol. 2018 Jan; 75(1): 105–113. Published online 2017 Nov 27. doi: 10.1001/jamaneurol.2017.2065

PMCID:: PMC5833489

Abstract Article

Select item 35904685.

RTN4IP1 Is Down-Regulated in Thyroid Cancer and Has Tumor-Suppressive Function

Reza Rahbari, Mio Kitano, Lisa Zhang, Swaroop Bommareddi, Electron Kebebew

J Clin Endocrinol Metab. 2013 Mar; 98(3): E446–E454. Published online 2013 Feb 7. doi: 10.1210/jc.2012-3180

PMCID:: PMC3590468

Abstract Article

Select item 108304216.

Mitochondrial matrix RTN4IP1/OPA10 is an oxidoreductase for coenzyme Q synthesis

Isaac Park, Kwang-eun Kim, Jeesoo Kim, Ae-Kyeong Kim, Subin Bae, Minkyo Jung, Jinhyuk Choi, Pratyush Kumar Mishra, Taek-Min Kim, Chulhwan Kwak, Myeong-Gyun Kang, Chang-Mo Yoo, Ji Young Mun, Kwang-Hyeon Liu, Kyu-Sun Lee, Jong-Seo Kim, Jae Myoung Suh, Hyun-Woo Rhee

Nat Chem Biol. 2024; 20(2): 221–233. Published online 2023 Oct 26. doi: 10.1038/s41589-023-01452-w

PMCID:: PMC10830421

Abstract Article PDF–8.0M

Select item 46671337.

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Claire Angebault, Pierre-Olivier Guichet, Yasmina Talmat-Amar, Majida Charif, Sylvie Gerber, Lucas Fares-Taie, Naig Gueguen, François Halloy, David Moore, Patrizia Amati-Bonneau, Gael Manes, Maxime Hebrard, Béatrice Bocquet, Mélanie Quiles, Camille Piro-Mégy, Marisa Teigell, Cécile Delettre, Mireille Rossel, Isabelle Meunier, Markus Preising, Birgit Lorenz, Valerio Carelli, Patrick F. Chinnery, Patrick Yu-Wai-Man, Josseline Kaplan, Agathe Roubertie, Abdelhamid Barakat, Dominique Bonneau, Pascal Reynier, Jean-Michel Rozet, Pascale Bomont, Christian P. Hamel, Guy Lenaers

Am J Hum Genet. 2015 Nov 5; 97(5): 754–760. Published online 2015 Oct 22. doi: 10.1016/j.ajhg.2015.09.012

Correction in:: Am J Hum Genet. 2015 Nov 5; 97(5): 769.

PMCID:: PMC4667133

Abstract Article PDF–1.2M

Select item 39266718.

High throughput RNAi screening identifies ID1 as a synthetic sick/lethal gene interacting with the common TP53 mutation R175H

HIROO IMAI, SHUNSUKE KATO, YASUHIRO SAKAMOTO, YUICHI KAKUDO, HIDEKI SHIMODAIRA, CHIKASHI ISHIOKA

Oncol Rep. 2014 Mar; 31(3): 1043–1050. Published online 2013 Dec 30. doi: 10.3892/or.2013.2953

PMCID:: PMC3926671

Abstract Article PDF–692K

Select item 66200289.

Mitochondrial ClpP-mediated proteolysis induces selective cancer cell lethality

Jo Ishizawa, Sarah F. Zarabi, R. Eric Davis, Ondrej Halgas, Takenobu Nii, Yulia Jitkova, Ran Zhao, Jonathan St-Germain, Lauren E. Heese, Grace Egan, Vivian R. Ruvolo, Samir H. Barghout, Yuki Nishida, Rose Hurren, Wencai Ma, Marcela Gronda, Todd Link, Keith Wong, Mark Mabanglo, Kensuke Kojima, Gautam Borthakur, Neil MacLean, John Man Chun Ma, Andrew B. Leber, Mark D. Minden, Walid Houry, Hagop Kantarjian, Martin Stogniew, Brian Raught, Emil F. Pai, Aaron D. Schimmer, Michael Andreeff

Cancer Cell. Author manuscript; available in PMC 2020 May 13.

Published in final edited form as: Cancer Cell. 2019 May 13; 35(5): 721–737.e9. Published online 2019 May 2. doi: 10.1016/j.ccell.2019.03.014

PMCID:: PMC6620028

Abstract Article PDF–2.9M

Select item 499245610.

Mitochondrial protein interaction mapping identifies new regulators of respiratory chain function

Brendan J. Floyd, Emily M. Wilkerson, Mike T. Veling, Catie E. Minogue, Chuanwu Xia, Emily T. Beebe, Russell L. Wrobel, Holly Cho, Laura S. Kremer, Charlotte L. Alston, Katarzyna A. Gromek, Brendan K. Dolan, Arne Ulbrich, Jonathan A. Stefely, Sarah L. Bohl, Kelly M. Werner, Adam Jochem, Michael S. Westphall, Jarred W. Rensvold, Robert W. Taylor, Holger Prokisch, Jung-Ja P. Kim, Joshua J. Coon, David J. Pagliarini

Mol Cell. Author manuscript; available in PMC 2017 Aug 18.

Published in final edited form as: Mol Cell. 2016 Aug 18; 63(4): 621–632. Published online 2016 Aug 4. doi: 10.1016/j.molcel.2016.06.033

PMCID:: PMC4992456

Abstract Article PDF–1.7M

Select item 631495711.

An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders

Siwei Chen, Robert Fragoza, Lambertus Klei, Yuan Liu, Jiebiao Wang, Kathryn Roeder, Bernie Devlin, Haiyuan Yu

Nat Genet. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: Nat Genet. 2018 Jul; 50(7): 1032–1040. Published online 2018 Jun 11. doi: 10.1038/s41588-018-0130-z

PMCID:: PMC6314957

Abstract Article PDF–1.3M

Select item 294347612.

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

PMCID:: PMC2943476

Abstract Article PDF–461K

Select item 318838813.

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 674264614.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 586483215.

An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations

Xiaonan Liu, Kari Salokas, Fitsum Tamene, Yaming Jiu, Rigbe G. Weldatsadik, Tiina Öhman, Markku Varjosalo

Nat Commun. 2018; 9: 1188. Published online 2018 Mar 22. doi: 10.1038/s41467-018-03523-2

PMCID:: PMC5864832

Abstract Article PDF–4.5M

Select item 289646416.

Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score

Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl

Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159

Correction in:: Mol Med. 2012; 18(1): 729.

PMCID:: PMC2896464

Abstract Article PDF–2.4M

Select item 426658817.

A proteome-scale map of the human interactome network

Thomas Rolland, Murat Taşan, Benoit Charloteaux, Samuel J. Pevzner, Quan Zhong, Nidhi Sahni, Song Yi, Irma Lemmens, Celia Fontanillo, Roberto Mosca, Atanas Kamburov, Susan D. Ghiassian, Xinping Yang, Lila Ghamsari, Dawit Balcha, Bridget E. Begg, Pascal Braun, Marc Brehme, Martin P. Broly, Anne-Ruxandra Carvunis, Dan Convery-Zupan, Roser Corominas, Jasmin Coulombe-Huntington, Elizabeth Dann, Matija Dreze, Amélie Dricot, Changyu Fan, Eric Franzosa, Fana Gebreab, Bryan J. Gutierrez, Madeleine F. Hardy, Mike Jin, Shuli Kang, Ruth Kiros, Guan Ning Lin, Katja Luck, Andrew MacWilliams, Jörg Menche, Ryan R. Murray, Alexandre Palagi, Matthew M. Poulin, Xavier Rambout, John Rasla, Patrick Reichert, Viviana Romero, Elien Ruyssinck, Julie M. Sahalie, Annemarie Scholz, Akash A. Shah, Amitabh Sharma, Yun Shen, Kerstin Spirohn, Stanley Tam, Alexander O. Tejeda, Shelly A. Wanamaker, Jean-Claude Twizere, Kerwin Vega, Jennifer Walsh, Michael E. Cusick, Yu Xia, Albert-László Barabási, Lilia M. Iakoucheva, Patrick Aloy, Javier De Las Rivas, Jan Tavernier, Michael A. Calderwood, David E. Hill, Tong Hao, Frederick P. Roth, Marc Vidal

Cell. Author manuscript; available in PMC 2015 Nov 20.

Published in final edited form as: Cell. 2014 Nov 20; 159(5): 1212–1226. doi: 10.1016/j.cell.2014.10.050

PMCID:: PMC4266588

Abstract Article PDF–3.1M

Select item 1023742218.

TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing

Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan

Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233

PMCID:: PMC10237422

Abstract Article PDF–23M

Select item 461721119.

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 716998320.

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