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Select item 100528761.

The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion

Jana Schuettpelz, Alexandre Janer, Hana Antonicka, Eric A Shoubridge

Life Sci Alliance. 2023 Jun; 6(6): e202301914. Published online 2023 Mar 28. doi: 10.26508/lsa.202301914

PMCID:: PMC10052876

Abstract Article PDF–4.8M

Select item 55407512.

SLC25A46 mutations associated with Autosomal Recessive Cerebellar Ataxia in North African families

Monia B. Hammer, Jinhui Ding, Fanny Mochel, Ghada Eleuch-Fayache, Perrine Charles, Marie Coutelier, J. Raphael Gibbs, Sampath K. Arepalli, Sean B. Chong, Dena G. Hernandez, Elisa Majounie, Steven Clipman, Yosr Bouhlal, Houda Nehdi, Alexis Brice, Faycal Hentati, Giovanni Stevanin, Rim Amouri, Alexandra Durr, Andrew B. Singleton

Neurodegener Dis. Author manuscript; available in PMC 2018 May 31.

Published in final edited form as: Neurodegener Dis. 2017; 17(4-5): 208–212. Published online 2017 May 31. doi: 10.1159/000464445

PMCID:: PMC5540751

Abstract Article PDF–542K

Select item 50098083.

SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome

Alexandre Janer, Julien Prudent, Vincent Paupe, Somayyeh Fahiminiya, Jacek Majewski, Nicolas Sgarioto, Christine Des Rosiers, Anik Forest, Zhen‐Yuan Lin, Anne‐Claude Gingras, Grant Mitchell, Heidi M McBride, Eric A Shoubridge

EMBO Mol Med. 2016 Sep; 8(9): 1019–1038. Published online 2016 Jul 7. doi: 10.15252/emmm.201506159

PMCID:: PMC5009808

Abstract Article PDF–4.7M

Select item 58408784.

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

Jijun Wan, Janos Steffen, Michael Yourshaw, Hafsa Mamsa, Erik Andersen, Sabine Rudnik-Schöneborn, Kate Pope, Katherine B. Howell, Catriona A. McLean, Andrew J. Kornberg, Jörg Joseph, Paul J. Lockhart, Klaus Zerres, Monique M. Ryan, Stanley F. Nelson, Carla M. Koehler, Joanna C. Jen

Brain. 2016 Nov; 139(11): 2877–2890. Published online 2016 Aug 20. doi: 10.1093/brain/aww212

PMCID:: PMC5840878

Abstract Article PDF–1.2M

Select item 37294175.

Genetic variants predicting left ventricular hypertrophy in a diabetic population: a Go-DARTS study including meta-analysis

Helen M Parry, Louise A Donnelly, Natalie Van Zuydam, Alexander SF Doney, Douglas HJ Elder, Andrew D Morris, Alan D Struthers, Colin NA Palmer, Chim C Lang

Cardiovasc Diabetol. 2013; 12: 109. Published online 2013 Jul 23. doi: 10.1186/1475-2840-12-109

PMCID:: PMC3729417

Abstract Article PDF–727K

Select item 53803146.

Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health

Amandine Duchesne, Anne Vaiman, Johan Castille, Christian Beauvallet, Pauline Gaignard, Sandrine Floriot, Sabrina Rodriguez, Marthe Vilotte, Laurent Boulanger, Bruno Passet, Olivier Albaric, François Guillaume, Abdelhak Boukadiri, Laurence Richard, Maud Bertaud, Edouard Timsit, Raphaël Guatteo, Florence Jaffrézic, Pierre Calvel, Louise Helary, Rachid Mahla, Diane Esquerré, Christine Péchoux, Sophie Liuu, Jean-Michel Vallat, Didier Boichard, Abdelhamid Slama, Jean-Luc Vilotte

PLoS Genet. 2017 Apr; 13(4): e1006597. Published online 2017 Apr 4. doi: 10.1371/journal.pgen.1006597

PMCID:: PMC5380314

Abstract Article PDF–2.6M

Select item 45207377.

Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder

Alexander J. Abrams, Robert B. Hufnagel, Adriana Rebelo, Claudia Zanna, Neville Patel, Michael A. Gonzalez, Ion J. Campeanu, Laurie B. Griffin, Saskia Groenewald, Alleene V. Strickland, Feifei Tao, Fiorella Speziani, Lisa Abreu, Rebecca Schüle, Leonardo Caporali, Chiara La Morgia, Alessandra Maresca, Rocco Liguori, Raffaele Lodi, Zubair M. Ahmed, Kristen L. Sund, Xinjian Wang, Laura A. Krueger, Yanyan Peng, Carlos E. Prada, Cynthia A. Prows, Kevin Bove, Elizabeth K. Schorry, Anthony Antonellis, Holly H. Zimmerman, Omar A. Abdul-Rahman, Yaping Yang, Susan M. Downes, Jeffery Prince, Flavia Fontanesi, Antonio Barrientos, Andrea H. Nemeth, Valerio Carelli, Taosheng Huang, Stephan Zuchner, Julia E. Dallman

Nat Genet. Author manuscript; available in PMC 2016 Feb 1.

Published in final edited form as: Nat Genet. 2015 Aug; 47(8): 926–932. Published online 2015 Jul 13. doi: 10.1038/ng.3354

PMCID:: PMC4520737

Abstract Article PDF–2.0M

Select item 53803108.

Novel insights into SLC25A46-related pathologies in a genetic mouse model

Maria Eirini Terzenidou, Aikaterini Segklia, Toshimi Kano, Florentia Papastefanaki, Alexandros Karakostas, Maria Charalambous, Fotis Ioakeimidis, Maria Papadaki, Ismini Kloukina, Margarita Chrysanthou-Piterou, Martina Samiotaki, George Panayotou, Rebecca Matsas, Eleni Douni

PLoS Genet. 2017 Apr; 13(4): e1006656. Published online 2017 Apr 4. doi: 10.1371/journal.pgen.1006656

PMCID:: PMC5380310

Abstract Article PDF–4.6M

Select item 42801839.

Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype

Manuel A. R. Ferreira, Melanie C. Matheson, Clara S. Tang, Raquel Granell, Wei Ang, Jennie Hui, Amy K. Kiefer, David L. Duffy, Svetlana Baltic, Patrick Danoy, Minh Bui, Loren Price, Peter D. Sly, Nicholas Eriksson, Pamela A. Madden, Michael J. Abramson, Patrick G. Holt, Andrew C. Heath, Michael Hunter, Bill Musk, Colin F. Robertson, Peter Le Souëf, Grant W. Montgomery, A. John Henderson, Joyce Y. Tung, Shyamali C. Dharmage, Matthew A. Brown, Alan James, Philip J. Thompson, Craig Pennell, Nicholas G. Martin, David M. Evans, David A. Hinds, John L. Hopper, the Australian Asthma Genetics Consortium Collaborators

J Allergy Clin Immunol. Author manuscript; available in PMC 2015 Jun 1.

Published in final edited form as: J Allergy Clin Immunol. 2014 Jun; 133(6): 1564–1571. Published online 2013 Dec 31. doi: 10.1016/j.jaci.2013.10.030

PMCID:: PMC4280183

Abstract Article PDF–350K

Select item 297556710.

Genetic Variants Associated With Cardiac Structure and Function: A Meta-analysis and Replication of Genome-wide Association Data

Dr. Ramachandran S. Vasan, Dr. Nicole L. Glazer, Dr. Janine F. Felix, Dr. Wolfgang Lieb, Dr. Philipp S. Wild, Dr. Stephan B. Felix, Dr. Norbert Watzinger, Dr. Martin G. Larson, Dr. Nicholas L. Smith, Dr. Abbas Dehghan, Dr. Anika Großhennig, Dr. Arne Schillert, Mr. Alexander Teumer, Dr. Reinhold Schmidt, Dr. Sekar Kathiresan, Dr. Thomas Lumley, Dr. Yurii S. Aulchenko, Dr. Inke R. König, Dr. Tanja Zeller, Dr. Georg Homuth, Dr. Maksim Struchalin, Dr. Jayashri Aragam, Dr. Joshua C. Bis, Dr. Fernando Rivadeneira, Dr. Jeanette Erdmann, Dr. Renate B. Schnabel, Dr. Marcus Dörr, Dr. Robert Zweiker, Dr. Lars Lind, Dr. Richard J. Rodeheffer, Dr. Karin Halina Greiser, Dr. Daniel Levy, Dr. Talin Haritunians, Dr. Jaap W. Deckers, Dr. Jan Stritzke, Dr. Karl J. Lackner, Dr. Uwe Völker, Dr. Erik Ingelsson, Dr. Iftikhar Kullo, Dr. Johannes Haerting, Dr. Christopher J. O’Donnell, Dr. Susan R. Heckbert, Dr. Bruno H. Stricker, Dr. Andreas Ziegler, Dr. Thorsten Reffelmann, Dr. Margaret M. Redfield, Dr. Karl Werdan, Dr. Gary F. Mitchell, Dr. Kenneth Rice, Dr. Donna K. Arnett, Dr. Albert Hofman, Dr. John S. Gottdiener, Dr. Andre G. Uitterlinden, Dr. Thomas Meitinger, Dr. Maria Blettner, Dr. Nele Friedrich, Dr. Thomas J. Wang, Dr. Bruce M. Psaty, Dr. Cornelia M. van Duijn, Dr. H.-Erich Wichmann, Dr. Thomas F. Munzel, Dr. Heyo K. Kroemer, Dr. Emelia J. Benjamin, Dr. Jerome I. Rotter, Dr. Jacqueline C. Witteman, Dr. Heribert Schunkert, Dr. Helena Schmidt, Dr. Henry Völzke, Dr. Stefan Blankenberg

JAMA. Author manuscript; available in PMC 2010 Nov 8.

Published in final edited form as: JAMA. 2009 Jul 8; 302(2): 168–178. doi: 10.1001/jama.2009.978-a

PMCID:: PMC2975567

Abstract Article PDF–1.3M

Select item 532861911.

Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria

Janos Steffen, Ajay A. Vashisht, Jijun Wan, Joanna C. Jen, Steven M. Claypool, James A. Wohlschlegel, Carla M. Koehler

Mol Biol Cell. 2017 Mar 1; 28(5): 600–612. doi: 10.1091/mbc.E16-07-0545

PMCID:: PMC5328619

Abstract Article PDF–2.7M

Select item 492242012.

Meta-analysis of genome-wide association studies identifies 10 loci influencing allergic sensitization

Klaus Bønnelykke, Melanie C Matheson, Tune H Pers, Raquel Granell, David P Strachan, Alexessander Couto Alves, Allan Linneberg, John A Curtin, Nicole M Warrington, Marie Standl, Marjan Kerkhof, Ingileif Jonsdottir, Blazenka K Bukvic, Marika Kaakinen, Patrick Sleimann, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Katharina Schramm, Svetlana Baltic, Eskil Kreiner-Møller, Angela Simpson, Beate St Pourcain, Lachlan Coin, Jennie Hui, Eugene H Walters, Carla M T Tiesler, David L Duffy, Graham Jones, AAGC, Susan M Ring, Wendy L McArdle, Loren Price, Colin F Robertson, Juha Pekkanen, Clara S Tang, Elisabeth Thiering, Grant W Montgomery, Anna-Liisa Hartikainen, Shyamali C Dharmage, Lise L Husemoen, Christian Herder, John P Kemp, Paul Elliot, Alan James, Melanie Waldenberger, Michael J Abramson, Benjamin P Fairfax, Julian C Knight, Ramneek Gupta, Philip J Thompson, Patrick Holt, Peter Sly, Joel N Hirschhorn, Mario Blekic, Stephan Weidinger, Hakon Hakonarsson, Kari Stefansson, Joachim Heinrich, Dirkje S Postma, Adnan Custovic, Craig E Pennell, Marjo-Riitta Jarvelin, Gerard H Koppelman, Nicholas Timpson, Manuel A Ferreira, Hans Bisgaard, A John Henderson

Nat Genet. Author manuscript; available in PMC 2016 Jun 27.

Published in final edited form as: Nat Genet. 2013 Aug; 45(8): 902–906. Published online 2013 Jun 30. doi: 10.1038/ng.2694

PMCID:: PMC4922420

Abstract Article PDF–937K

Select item 683439113.

Integrated proteogenetic analysis reveals the landscape of a mitochondrial-autophagosome synapse during PARK2-dependent mitophagy

Jin-Mi Heo, Nathan J. Harper, Joao A. Paulo, Mamie Li, Qikai Xu, Margaret Coughlin, Stephen J. Elledge, J. Wade Harper

Sci Adv. 2019 Nov; 5(11): eaay4624. Published online 2019 Nov 6. doi: 10.1126/sciadv.aay4624

PMCID:: PMC6834391

Abstract Article PDF–2.6M

Select item 583958514.

Identification of proteins interacting with the mitochondrial small heat shock protein Hsp22 of Drosophila melanogaster: Implication in mitochondrial homeostasis

Afrooz Dabbaghizadeh, Geneviève Morrow, Yasmine Ould Amer, Etienne Hebert Chatelain, Nicolas Pichaud, Robert M. Tanguay

PLoS One. 2018; 13(3): e0193771. Published online 2018 Mar 6. doi: 10.1371/journal.pone.0193771

PMCID:: PMC5839585

Abstract Article PDF–15M

Select item 294347615.

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 464794116.

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 586483217.

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 948193318.

ALS-linked loss of Cyclin-F function affects HSP90

Alexander Siebert, Vanessa Gattringer, Jochen H Weishaupt, Christian Behrends

Life Sci Alliance. 2022 Dec; 5(12): e202101359. Published online 2022 Sep 16. doi: 10.26508/lsa.202101359

PMCID:: PMC9481933

Abstract Article PDF–3.5M

Select item 347780419.

A Census of Human Soluble Protein Complexes

Pierre C. Havugimana, G. Traver Hart, Tamás Nepusz, Haixuan Yang, Andrei L. Turinsky, Zhihua Li, Peggy I. Wang, Daniel R. Boutz, Vincent Fong, Sadhna Phanse, Mohan Babu, Stephanie A. Craig, Pingzhao Hu, Cuihong Wan, James Vlasblom, Vaqaarun-Nisa Dar, Alexander Bezginov, Gregory W. Clark, Gabriel C. Wu, Shoshana J. Wodak, Elisabeth R.M. Tillier, Alberto Paccanaro, Edward M. Marcotte, Andrew Emili

Cell. Author manuscript; available in PMC 2013 Aug 31.

Published in final edited form as: Cell. 2012 Aug 31; 150(5): 1068–1081. doi: 10.1016/j.cell.2012.08.011