PMC Links for Gene (Select 79135) - PMC

Ruchika Anand, Arun Kumar Kondadi, Jana Meisterknecht, Mathias Golombek, Oliver Nortmann, Julia Riedel, Leon Peifer-Weiß, Nahal Brocke-Ahmadinejad, David Schlütermann, Björn Stork, Thomas O Eichmann, Ilka Wittig, Andreas S Reichert

Life Sci Alliance. 2020 Oct; 3(10): e202000711. Published online 2020 Aug 11. doi: 10.26508/lsa.202000711

PMCID:: PMC7425215

Article PDF–2.8M

Select item 70150385.

Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases

Emmanuelle C. Genin, Sylvie Bannwarth, Françoise Lespinasse, Bernardo Ortega-Vila, Konstantina Fragaki, Kie Itoh, Elodie Villa, Sandra Lacas-Gervais, Manu Jokela, Mari Auranen, Emil Ylikallio, Alessandra Mauri-Crouzet, Henna Tyynismaa, Anna Vihola, Gaelle Augé, Charlotte Cochaud, Hiromi Sesaki, Jean-Ehrland Ricci, Bjarne Udd, Cristofol Vives-Bauza, Véronique Paquis-Flucklinger

Neurobiol Dis. Author manuscript; available in PMC 2020 Feb 12.

Published in final edited form as: Neurobiol Dis. 2018 Nov; 119: 159–171. Published online 2018 Aug 6. doi: 10.1016/j.nbd.2018.07.027

PMCID:: PMC7015038

Article PDF–2.1M

Select item 40015586.

Apolipoprotein O is mitochondrial and promotes lipotoxicity in heart

Annie Turkieh, Céline Caubère, Manon Barutaut, Franck Desmoulin, Romain Harmancey, Michel Galinier, Matthieu Berry, Camille Dambrin, Carlo Polidori, Louis Casteilla, François Koukoui, Philippe Rouet, Fatima Smih

J Clin Invest. 2014 May 1; 124(5): 2277–2286. Published online 2014 Apr 17. doi: 10.1172/JCI74668

PMCID:: PMC4001558

Article PDF–1.8M

Select item 71167907.

Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features

Cristiane Benincá, Vanessa Zanette, Michele Brischigliaro, Mark Johnson, Aurelio Reyes, Daniel Almeida do Valle, Alan J. Robinson, Andrea Degiorgi, Anna Yeates, Bruno Augusto Telles, Julien Prudent, Enrico Baruffini, Mara Lucia S. F. Santos, Ricardo Lehtonen R. de Souza, Erika Fernandez-Vizarra, Alexander J. Whitworth, Massimo Zeviani

J Med Genet. 2021 Mar; 58(3): 155–167. Published online 2020 May 21. doi: 10.1136/jmedgenet-2020-106861

PMCID:: PMC7116790

Article PDF–8.1M

Select item 43637038.

Detailed Analysis of the Human Mitochondrial Contact Site Complex Indicate a Hierarchy of Subunits

Christine Ott, Eva Dorsch, Martin Fraunholz, Sebastian Straub, Vera Kozjak-Pavlovic

PLoS One. 2015; 10(3): e0120213. Published online 2015 Mar 17. doi: 10.1371/journal.pone.0120213

PMCID:: PMC4363703

Article PDF–1.8M

Select item 44397399.

QIL1 is a novel mitochondrial protein required for MICOS complex stability and cristae morphology

Virginia Guarani, Elizabeth M McNeill, Joao A Paulo, Edward L Huttlin, Florian Fröhlich, Steven P Gygi, David Van Vactor, J Wade Harper

eLife. 2015; 4: e06265. Published online 2015 May 21. doi: 10.7554/eLife.06265

PMCID:: PMC4439739

Article PDF–8.2M

Select item 532861910.

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

Article PDF–2.7M

Select item 286078311.

Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer’s disease

J Chapuis, D Hot, F Hansmannel, O Kerdraon, S Ferreira, C Hubans, CA Maurage, L Huot, F Bensemain, G Laumet, AM Ayral, N Fievet, JJ Hauw, ST DeKosky, Y Lemoine, T Iwatsubo, F Wavrant-Devrièze, JF Dartigues, C Tzourio, L Buée, F Pasquier, C Berr, D Mann, C Lendon, A Alpérovitch, MI Kamboh, P Amouyel, JC Lambert

Mol Psychiatry. Author manuscript; available in PMC 2010 Apr 28.

Published in final edited form as: Mol Psychiatry. 2009 Nov; 14(11): 1004–1016. Published online 2009 Feb 10. doi: 10.1038/mp.2009.10

PMCID:: PMC2860783

Article PDF–1.3M

Select item 402382512.

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

Article PDF–5.5M

Select item 301344213.

Phosphoproteome Analysis of Functional Mitochondria Isolated from Resting Human Muscle Reveals Extensive Phosphorylation of Inner Membrane Protein Complexes and Enzymes

Xiaolu Zhao, Ileana R. León, Steffen Bak, Martin Mogensen, Krzysztof Wrzesinski, Kurt Højlund, Ole Nørregaard Jensen

Mol Cell Proteomics. 2011 Jan; 10(1): M110.000299. Published online 2010 Sep 10. doi: 10.1074/mcp.M110.000299

PMCID:: PMC3013442

Article PDF–310K

Select item 764232714.

A trimeric Rab7 GEF controls NPC1-dependent lysosomal cholesterol export

Dick J. H. van den Boomen, Agata Sienkiewicz, Ilana Berlin, Marlieke L. M. Jongsma, Daphne M. van Elsland, J. Paul Luzio, Jacques J. C. Neefjes, Paul J. Lehner

Nat Commun. 2020; 11: 5559. Published online 2020 Nov 3. doi: 10.1038/s41467-020-19032-0

PMCID:: PMC7642327

Article PDF–12M

Select item 962912115.

Therapeutic targeting of the USP2-E2F4 axis inhibits autophagic machinery essential for zinc homeostasis in cancer progression

Wenjing Xiao, Jianqun Wang, Xiaojing Wang, Shuang Cai, Yanhua Guo, Lin Ye, Dan Li, Anpei Hu, Shikai Jin, Boling Yuan, Yi Zhou, Qilan Li, Qiangsong Tong, Liduan Zheng

Autophagy. 2022; 18(11): 2615–2635. Published online 2022 Mar 6. doi: 10.1080/15548627.2022.2044651

PMCID:: PMC9629121

Article PDF–8.1M

Select item 499245616.

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

Article PDF–1.7M

Select item 933831317.

HSF1 phosphorylation establishes an active chromatin state via the TRRAP–TIP60 complex and promotes tumorigenesis

Mitsuaki Fujimoto, Ryosuke Takii, Masaki Matsumoto, Mariko Okada, Keiich I. Nakayama, Ryuichiro Nakato, Katsunori Fujiki, Katsuhiko Shirahige, Akira Nakai

Nat Commun. 2022; 13: 4355. Published online 2022 Jul 29. doi: 10.1038/s41467-022-32034-4

PMCID:: PMC9338313

Article PDF–2.8M

Select item 40369718.

The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment

Hilary F. Clark, Austin L. Gurney, Evangeline Abaya, Kevin Baker, Daryl Baldwin, Jennifer Brush, Jian Chen, Bernard Chow, Clarissa Chui, Craig Crowley, Bridget Currell, Bethanne Deuel, Patrick Dowd, Dan Eaton, Jessica Foster, Christopher Grimaldi, Qimin Gu, Philip E. Hass, Sherry Heldens, Arthur Huang, Hok Seon Kim, Laura Klimowski, Yisheng Jin, Stephanie Johnson, James Lee, Lhney Lewis, Dongzhou Liao, Melanie Mark, Edward Robbie, Celina Sanchez, Jill Schoenfeld, Somasekar Seshagiri, Laura Simmons, Jennifer Singh, Victoria Smith, Jeremy Stinson, Alicia Vagts, Richard Vandlen, Colin Watanabe, David Wieand, Kathryn Woods, Ming-Hong Xie, Daniel Yansura, Sothy Yi, Guoying Yu, Jean Yuan, Min Zhang, Zemin Zhang, Audrey Goddard, William I. Wood, Paul Godowski

Genome Res. 2003 Oct; 13(10): 2265–2270. doi: 10.1101/gr.1293003

Correction in:: Genome Res. 2003 Dec; 13(12): 2759.

PMCID:: PMC403697

Article PDF–120K

Select item 294516819.

Variation at the NFATC2 Locus Increases the Risk of Thiazolidinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study

Swneke D. Bailey, Changchun Xie, Ron Do, Alexandre Montpetit, Rafael Diaz, Viswanathan Mohan, Bernard Keavney, Salim Yusuf, Hertzel C. Gerstein, James C. Engert, Sonia Anand, on behalf of the DREAM investigators

Diabetes Care. 2010 Oct; 33(10): 2250–2253. Published online 2010 Jul 13. doi: 10.2337/dc10-0452

PMCID:: PMC2945168

Article PDF–153K

Select item 277583220.

Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip

Philippa J. Talmud, Fotios Drenos, Sonia Shah, Tina Shah, Jutta Palmen, Claudio Verzilli, Tom R. Gaunt, Jacky Pallas, Ruth Lovering, Kawah Li, Juan Pablo Casas, Reecha Sofat, Meena Kumari, Santiago Rodriguez, Toby Johnson, Stephen J. Newhouse, Anna Dominiczak, Nilesh J. Samani, Mark Caulfield, Peter Sever, Alice Stanton, Denis C. Shields, on behalf of the ASCOT investigators, Sandosh Padmanabhan, Olle Melander, Claire Hastie, Christian Delles, on behalf of the NORDIL investigators, Shah Ebrahim, Michael G. Marmot, George Davey Smith, Debbie A. Lawlor, Patricia B. Munroe, for the BRIGHT Consortium, Ian N. Day, Mika Kivimaki, John Whittaker, Steve E. Humphries, Aroon D. Hingorani

Am J Hum Genet. 2009 Nov 13; 85(5): 628–642. doi: 10.1016/j.ajhg.2009.10.014

PMCID:: PMC2775832

Article PDF–2.8M

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