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Items: 1 to 20 of 30

1.
Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency
Xiyue Zhou, Xiaoting Lou, Yuwei Zhou, Yaojun Xie, Xinyu Han, Qiyu Dong, Xiaojie Ying, Mahlatsi Refiloe Laurentinah, Luyi Zhang, Zhehui Chen, Dongxiao Li, Hezhi Fang, Jianxin Lyu, Yanling Yang, Ya Wang
J Hum Genet. 2023; 68(4): 239–246. Published online 2022 Dec 8. doi: 10.1038/s10038-022-01102-4
PMCID:
PMC10040336
AbstractArticlePDF–1.4M
2.
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype
Charlotte L. Alston, Alison G. Compton, Luke E. Formosa, Valentina Strecker, Monika Oláhová, Tobias B. Haack, Joél Smet, Katrien Stouffs, Peter Diakumis, Elżbieta Ciara, David Cassiman, Nadine Romain, John W. Yarham, Langping He, Boel De Paepe, Arnaud V. Vanlander, Sara Seneca, René G. Feichtinger, Rafal Płoski, Dariusz Rokicki, Ewa Pronicka, Ronald G. Haller, Johan L.K. Van Hove, Melanie Bahlo, Johannes A. Mayr, Rudy Van Coster, Holger Prokisch, Ilka Wittig, Michael T. Ryan, David R. Thorburn, Robert W. Taylor
Am J Hum Genet. 2016 Jul 7; 99(1): 217–227. Published online 2016 Jun 30. doi: 10.1016/j.ajhg.2016.05.021
PMCID:
PMC5005451
AbstractArticlePDF–1.7M
3.
Dynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative Diseases
Gabriele Giachin, Romain Bouverot, Samira Acajjaoui, Serena Pantalone, Montserrat Soler-López
Front Mol Biosci. 2016; 3: 43. Published online 2016 Aug 22. doi: 10.3389/fmolb.2016.00043
PMCID:
PMC4992684
AbstractArticlePDF–3.3M
4.
New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre
Ewa Pronicka, Dorota Piekutowska-Abramczuk, Elżbieta Ciara, Joanna Trubicka, Dariusz Rokicki, Agnieszka Karkucińska-Więckowska, Magdalena Pajdowska, Elżbieta Jurkiewicz, Paulina Halat, Joanna Kosińska, Agnieszka Pollak, Małgorzata Rydzanicz, Piotr Stawinski, Maciej Pronicki, Małgorzata Krajewska-Walasek, Rafał Płoski
J Transl Med. 2016; 14: 174. Published online 2016 Jun 12. doi: 10.1186/s12967-016-0930-9
PMCID:
PMC4903158
AbstractArticlePDF–1.3M
5.
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency
Laura Sánchez-Caballero, Benedetta Ruzzenente, Lucas Bianchi, Zahra Assouline, Giulia Barcia, Metodi D. Metodiev, Marlène Rio, Benoît Funalot, Mariël A.M. van den Brand, Sergio Guerrero-Castillo, Joery P. Molenaar, David Koolen, Ulrich Brandt, Richard J. Rodenburg, Leo G. Nijtmans, Agnès Rötig
Am J Hum Genet. 2016 Jul 7; 99(1): 208–216. Published online 2016 Jun 30. doi: 10.1016/j.ajhg.2016.05.022
PMCID:
PMC5005453
AbstractArticlePDF–2.0M
6.
Assembly factors for the membrane arm of human complex I
Byron Andrews, Joe Carroll, Shujing Ding, Ian M. Fearnley, John E. Walker
Proc Natl Acad Sci U S A. 2013 Nov 19; 110(47): 18934–18939. Published online 2013 Nov 4. doi: 10.1073/pnas.1319247110
PMCID:
PMC3839705
AbstractArticlePDF–807K
7.
Degradation of the mitochondrial complex I assembly factor TMEM126B under chronic hypoxia
Dominik C. Fuhrmann, Ilka Wittig, Stefan Dröse, Tobias Schmid, Nathalie Dehne, Bernhard Brüne
Cell Mol Life Sci. 2018 Aug; 75(16): 3051–3067. Published online 2018 Feb 20. doi: 10.1007/s00018-018-2779-y
PMCID:
PMC11105659
AbstractArticlePDF–4.5M
8.
TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase and interact with assembly factors for complex I
Joe Carroll, Jiuya He, Shujing Ding, Ian M. Fearnley, John E. Walker
Proc Natl Acad Sci U S A. 2021 Mar 30; 118(13): e2100558118. Published online 2021 Mar 22. doi: 10.1073/pnas.2100558118
PMCID:
PMC8020751
AbstractArticlePDF–1.6M
9.
A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation
Karol Estrada, Michael Krawczak, Stefan Schreiber, Kate van Duijn, Lisette Stolk, Joyce B.J. van Meurs, Fan Liu, Brenda W.J.H. Penninx, Jan H. Smit, Nicole Vogelzangs, Jouke Jan Hottenga, Gonneke Willemsen, Eco J.C. de Geus, Mattias Lorentzon, Huberta von Eller-Eberstein, Paul Lips, Natascha Schoor, Victor Pop, Jules de Keijzer, Albert Hofman, Yurii S. Aulchenko, Ben A. Oostra, Claes Ohlsson, Dorret I. Boomsma, Andre G. Uitterlinden, Cornelia M. van Duijn, Fernando Rivadeneira, Manfred Kayser
Hum Mol Genet. 2009 Sep 15; 18(18): 3516–3524. Published online 2009 Jul 1. doi: 10.1093/hmg/ddp296
PMCID:
PMC2729669
AbstractArticlePDF–242K
10.
Genome-wide association with bone mass and geometry in the Framingham Heart Study
Douglas P Kiel, Serkalem Demissie, Josée Dupuis, Kathryn L Lunetta, Joanne M Murabito, David Karasik
BMC Med Genet. 2007; 8(Suppl 1): S14. Published online 2007 Sep 19. doi: 10.1186/1471-2350-8-S1-S14
PMCID:
PMC1995606
AbstractArticlePDF–344K
11.
TIMMDC1/C3orf1 Functions as a Membrane-Embedded Mitochondrial Complex I Assembly Factor through Association with the MCIA Complex
Virginia Guarani, Joao Paulo, Bo Zhai, Edward L. Huttlin, Steven P. Gygi, J. Wade Harper
Mol Cell Biol. 2014 Mar; 34(5): 847–861. doi: 10.1128/MCB.01551-13
PMCID:
PMC4023825
AbstractArticlePDF–5.5M
12.
Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
R.-M. Hu, Z.-G. Han, H.-D. Song, Y.-D. Peng, Q.-H. Huang, S.-X. Ren, Y.-J. Gu, C.-H. Huang, Y.-B. Li, C.-L. Jiang, G. Fu, Q.-H. Zhang, B.-W. Gu, M. Dai, Y.-F. Mao, G.-F. Gao, R. Rong, M. Ye, J. Zhou, S.-H. Xu, J. Gu, J.-X. Shi, W.-R. Jin, C.-K. Zhang, T.-M. Wu, G.-Y. Huang, Z. Chen, M.-D. Chen, J.-L. Chen
Proc Natl Acad Sci U S A. 2000 Aug 15; 97(17): 9543–9548. Published online 2000 Aug 8. doi: 10.1073/pnas.160270997
PMCID:
PMC16901
AbstractArticlePDF–801K
13.
Dependence of Human Colorectal Cells Lacking the FBW7 Tumor Suppressor on the Spindle Assembly Checkpoint
Melanie L. Bailey, Tejomayee Singh, Patricia Mero, Jason Moffat, Philip Hieter
Genetics. 2015 Nov; 201(3): 885–895. Published online 2015 Sep 8. doi: 10.1534/genetics.115.180653
PMCID:
PMC4649658
AbstractArticlePDF–1.8M
14.
K48- and K63-linked ubiquitin chain interactome reveals branch- and length-specific ubiquitin interactors
Anita Waltho, Oliver Popp, Christopher Lenz, Lukas Pluska, Mahil Lambert, Volker Dötsch, Philipp Mertins, Thomas Sommer
Life Sci Alliance. 2024 Aug; 7(8): e202402740. Published online 2024 May 21. doi: 10.26508/lsa.202402740
PMCID:
PMC11109483
AbstractArticlePDF–2.9M
15.
Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism
Giulia Antoniali, Fabrizio Serra, Lisa Lirussi, Mikiei Tanaka, Chiara D’Ambrosio, Shiheng Zhang, Slobodanka Radovic, Emiliano Dalla, Yari Ciani, Andrea Scaloni, Mengxia Li, Silvano Piazza, Gianluca Tell
Nat Commun. 2017; 8: 797. Published online 2017 Oct 6. doi: 10.1038/s41467-017-00842-8
PMCID:
PMC5630600
AbstractArticlePDF–2.3M
16.
Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions
Yutaka Suzuki, Riu Yamashita, Matsuyuki Shirota, Yuta Sakakibara, Joe Chiba, Junko Mizushima-Sugano, Kenta Nakai, Sumio Sugano
Genome Res. 2004 Sep; 14(9): 1711–1718. doi: 10.1101/gr.2435604
PMCID:
PMC515316
AbstractArticlePDF–181K
17.
Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism
Michael Aregger, Keith A. Lawson, Maximillian Billmann, Michael Costanzo, Amy H. Y. Tong, Katherine Chan, Mahfuzur Rahman, Kevin R. Brown, Catherine Ross, Matej Usaj, Lucy Nedyalkova, Olga Sizova, Andrea Habsid, Judy Pawling, Zhen-Yuan Lin, Hala Abdouni, Cassandra J. Wong, Alexander Weiss, Patricia Mero, James W. Dennis, Anne-Claude Gingras, Chad L. Myers, Brenda J. Andrews, Charles Boone, Jason Moffat
Nat Metab. Author manuscript; available in PMC 2020 Dec 1.
Published in final edited form as: Nat Metab. 2020 Jun; 2(6): 499–513. Published online 2020 Jun 1. doi: 10.1038/s42255-020-0211-z
PMCID:
PMC7566881
AbstractArticlePDF–4.8M
18.
Substrate-Trapped Interactors of PHD3 and FIH Cluster in Distinct Signaling Pathways
Javier Rodriguez, Ruth Pilkington, Amaya Garcia Munoz, Lan K. Nguyen, Nora Rauch, Susan Kennedy, Naser Monsefi, Ana Herrero, Cormac T. Taylor, Alex von Kriegsheim
Cell Rep. 2016 Mar 22; 14(11): 2745–2760. Published online 2016 Mar 10. doi: 10.1016/j.celrep.2016.02.043
PMCID:
PMC4805855
AbstractArticlePDF–4.6M
19.
Interactions of Pathological Hallmark Proteins: TUBULIN POLYMERIZATION PROMOTING PROTEIN/p25, β-AMYLOID, AND α-SYNUCLEIN
Judit Oláh, Orsolya Vincze, Dezső Virók, Dóra Simon, Zsolt Bozsó, Natália Tőkési, István Horváth, Emma Hlavanda, János Kovács, Anna Magyar, Mária Szűcs, Ferenc Orosz, Botond Penke, Judit Ovádi
J Biol Chem. 2011 Sep 30; 286(39): 34088–34100. Published online 2011 Aug 8. doi: 10.1074/jbc.M111.243907
PMCID:
PMC3190826
AbstractArticlePDF–5.7M
20.
Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells
Giorgio Giurato, Giovanni Nassa, Annamaria Salvati, Elena Alexandrova, Francesca Rizzo, Tuula A. Nyman, Alessandro Weisz, Roberta Tarallo
Sci Data. 2018; 5: 180031. Published online 2018 Mar 6. doi: 10.1038/sdata.2018.31
PMCID:
PMC5839158
AbstractArticlePDF–1.9M

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