PMC Links for Protein (Select 27923741) - PMC

Select item 50124271.

Cerebellar Ataxia and Coenzyme Q Deficiency Through Loss of Unorthodox Kinase Activity

Jonathan A. Stefely, Floriana Licitra, Leila Laredj, Andrew G. Reidenbach, Zachary A. Kemmerer, Anais Grangeray, Tiphaine Jaeg-Ehret, Catherine E. Minogue, Arne Ulbrich, Paul D. Hutchins, Emily M. Wilkerson, Zheng Ruan, Deniz Aydin, Alexander S. Hebert, Xiao Guo, Elyse C. Freiberger, Laurence Reutenauer, Adam Jochem, Maya Chergova, Isabel E. Johnson, Danielle C. Lohman, Matthew J. P. Rush, Nicholas W. Kwiecien, Pankaj K. Singh, Anna I. Schlagowski, Brendan J. Floyd, Ulrika Forsman, Pavel J. Sindelar, Michael S. Westphall, Fabien Pierrel, Joffrey Zoll, Matteo Dal Peraro, Natarajan Kannan, Craig A. Bingman, Joshua J. Coon, Philippe Isope, Hélène Puccio, 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): 608–620. Published online 2016 Aug 4. doi: 10.1016/j.molcel.2016.06.030

PMCID:: PMC5012427

Abstract Article PDF–2.2M

Select item 49924562.

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 49506733.

Cerebellar ataxia and severe muscle CoQ₁₀ deficiency in a patient with a novel mutation in ADCK3

E. Barca, O. Musumeci, F. Montagnese, S. Marino, F. Granata, D. Nunnari, L. Peverelli, S. DiMauro, C.M. Quinzii, A. Toscano

Clin Genet. Author manuscript; available in PMC 2017 Aug 1.

Published in final edited form as: Clin Genet. 2016 Aug; 90(2): 156–160. Published online 2016 Feb 16. doi: 10.1111/cge.12742

PMCID:: PMC4950673

Abstract Article PDF–195K

Select item 42894734.

Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis

Jonathan A. Stefely, Andrew G. Reidenbach, Arne Ulbrich, Krishnadev Oruganty, Brendan J. Floyd, Adam Jochem, Jaclyn M. Saunders, Isabel E. Johnson, Catherine E. Minogue, Russell L. Wrobel, Grant E. Barber, David Lee, Sheng Li, Natarajan Kannan, Joshua J. Coon, Craig A. Bingman, David J. Pagliarini

Mol Cell. Author manuscript; available in PMC 2016 Jan 8.

Published in final edited form as: Mol Cell. 2015 Jan 8; 57(1): 83–94. Published online 2014 Dec 11. doi: 10.1016/j.molcel.2014.11.002

PMCID:: PMC4289473

Abstract Article PDF–1.6M

Select item 41953745.

A Gly-Zipper Motif Mediates Homodimerization of the Transmembrane Domain of the Mitochondrial Kinase ADCK3

Ambalika S. Khadria, Benjamin K. Mueller, Jonathan A. Stefely, Chin Huat Tan, David J. Pagliarini, Alessandro Senes

J Am Chem Soc. 2014 Oct 8; 136(40): 14068–14077. Published online 2014 Sep 12. doi: 10.1021/ja505017f

PMCID:: PMC4195374

Abstract Article PDF–4.2M

Select item 39953286.

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

Yo-Tsen Liu, Joshua Hersheson, Vincent Plagnol, Katherine Fawcett, Kate E C Duberley, Elisavet Preza, Iain P Hargreaves, Annapurna Chalasani, Matilde Laurá, Nick W Wood, Mary M Reilly, Henry Houlden

J Neurol Neurosurg Psychiatry. 2014 May; 85(5): 493–498. Published online 2013 Nov 11. doi: 10.1136/jnnp-2013-306483

PMCID:: PMC3995328

Abstract Article PDF–934K

Select item 38978007.

Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability

Lubov Blumkin, Esther Leshinsky-Silver, Ayelet Zerem, Keren Yosovich, Tally Lerman-Sagie, Dorit Lev

JIMD Rep. 2014; 12: 103–107. Published online 2013 Sep 19. doi: 10.1007/8904_2013_251

PMCID:: PMC3897800

Abstract Article PDF–425K

Select item 38594258.

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ₁₀ biosynthesis disruption

Shazia Ashraf, Heon Yung Gee, Stephanie Woerner, Letian X. Xie, Virginia Vega-Warner, Svjetlana Lovric, Humphrey Fang, Xuewen Song, Daniel C. Cattran, Carmen Avila-Casado, Andrew D. Paterson, Patrick Nitschké, Christine Bole-Feysot, Pierre Cochat, Julian Esteve-Rudd, Birgit Haberberger, Susan J. Allen, Weibin Zhou, Rannar Airik, Edgar A. Otto, Moumita Barua, Mohamed H. Al-Hamed, Jameela A. Kari, Jonathan Evans, Agnieszka Bierzynska, Moin A. Saleem, Detlef Böckenhauer, Robert Kleta, Sherif El Desoky, Duygu O. Hacihamdioglu, Faysal Gok, Joseph Washburn, Roger C. Wiggins, Murim Choi, Richard P. Lifton, Shawn Levy, Zhe Han, Leonardo Salviati, Holger Prokisch, David S. Williams, Martin Pollak, Catherine F. Clarke, York Pei, Corinne Antignac, Friedhelm Hildebrandt

J Clin Invest. 2013 Dec 2; 123(12): 5179–5189. Published online 2013 Nov 25. doi: 10.1172/JCI69000

PMCID:: PMC3859425

Abstract Article PDF–2.9M

Select item 30753509.

Expression of the Human Atypical Kinase ADCK3 Rescues Coenzyme Q Biosynthesis and Phosphorylation of Coq Polypeptides in Yeast coq8 Mutants

Letian X. Xie, Edward J. Hsieh, Shota Watanabe, Christopher M. Allan, Jia Y. Chen, UyenPhuong C. Tran, Catherine F. Clarke

Biochim Biophys Acta. Author manuscript; available in PMC 2012 May 1.

Published in final edited form as: Biochim Biophys Acta. 2011 May; 1811(5): 348–360. Published online 2011 Feb 4. doi: 10.1016/j.bbalip.2011.01.009

PMCID:: PMC3075350

Abstract Article PDF–3.3M

Select item 303957010.

Initial characterization of the human central proteome

Thomas R Burkard, Melanie Planyavsky, Ines Kaupe, Florian P Breitwieser, Tilmann Bürckstümmer, Keiryn L Bennett, Giulio Superti-Furga, Jacques Colinge

BMC Syst Biol. 2011; 5: 17. Published online 2011 Jan 26. doi: 10.1186/1752-0509-5-17

PMCID:: PMC3039570

Abstract Article PDF–2.3M

Select item 271271911.

Patterns of somatic mutation in human cancer genomes

Christopher Greenman, Philip Stephens, Raffaella Smith, Gillian L. Dalgliesh, Christopher Hunter, Graham Bignell, Helen Davies, Jon Teague, Adam Butler, Claire Stevens, Sarah Edkins, Sarah O'Meara, Imre Vastrik, Esther E. Schmidt, Tim Avis, Syd Barthorpe, Gurpreet Bhamra, Gemma Buck, Bhudipa Choudhury, Jody Clements, Jennifer Cole, Ed Dicks, Simon Forbes, Kris Gray, Kelly Halliday, Rachel Harrison, Katy Hills, Jon Hinton, Andy Jenkinson, David Jones, Andy Menzies, Tatiana Mironenko, Janet Perry, Keiran Raine, Dave Richardson, Rebecca Shepherd, Alexandra Small, Calli Tofts, Jennifer Varian, Tony Webb, Sofie West, Sara Widaa, Andy Yates, Daniel P. Cahill, David N. Louis, Peter Goldstraw, Andrew G. Nicholson, Francis Brasseur, Leendert Looijenga, Barbara L. Weber, Yoke-Eng Chiew, Anna deFazio, Mel F. Greaves, Anthony R. Green, Peter Campbell, Ewan Birney, Douglas F. Easton, Georgia Chenevix-Trench, Min-Han Tan, Sok Kean Khoo, Bin Tean Teh, Siu Tsan Yuen, Suet Yi Leung, Richard Wooster, P. Andrew Futreal, Michael R. Stratton

Nature. Author manuscript; available in PMC 2009 Jul 20.

Published in final edited form as: Nature. 2007 Mar 8; 446(7132): 153–158. doi: 10.1038/nature05610

PMCID:: PMC2712719

Abstract Article PDF–867K

Select item 242729812.

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

Julie Mollet, Agnès Delahodde, Valérie Serre, Dominique Chretien, Dimitri Schlemmer, Anne Lombes, Nathalie Boddaert, Isabelle Desguerre, Pascale de Lonlay, Hélène Ogier de Baulny, Arnold Munnich, Agnès Rötig

Am J Hum Genet. 2008 Mar 3; 82(3): 623–630. Published online 2008 Feb 29. doi: 10.1016/j.ajhg.2007.12.022

PMCID:: PMC2427298

Abstract Article PDF–905K

Select item 242719313.

ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q₁₀ Deficiency

Clotilde Lagier-Tourenne, Meriem Tazir, Luis Carlos López, Catarina M. Quinzii, Mirna Assoum, Nathalie Drouot, Cleverson Busso, Samira Makri, Lamia Ali-Pacha, Traki Benhassine, Mathieu Anheim, David R. Lynch, Christelle Thibault, Frédéric Plewniak, Laurent Bianchetti, Christine Tranchant, Olivier Poch, Salvatore DiMauro, Jean-Louis Mandel, Mario H. Barros, Michio Hirano, Michel Koenig

Am J Hum Genet. 2008 Mar 3; 82(3): 661–672. Published online 2008 Feb 29. doi: 10.1016/j.ajhg.2007.12.024

PMCID:: PMC2427193

Abstract Article PDF–1.7M

Select item 221367614.

The full-ORF clone resource of the German cDNA Consortium

Stephanie Bechtel, Heiko Rosenfelder, Anny Duda, Christian Peter Schmidt, Ute Ernst, Ruth Wellenreuther, Alexander Mehrle, Claudia Schuster, Andre Bahr, Helmut Blöcker, Dagmar Heubner, Andreas Hoerlein, Guenter Michel, Holger Wedler, Karl Köhrer, Birgit Ottenwälder, Annemarie Poustka, Stefan Wiemann, Ingo Schupp

BMC Genomics. 2007; 8: 399. Published online 2007 Oct 31. doi: 10.1186/1471-2164-8-399

PMCID:: PMC2213676

Abstract Article PDF–939K

Select item 52892815.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

Select item 52484216.

Large-scale cDNA transfection screening for genes related to cancer development and progression

Dafang Wan, Yi Gong, Wenxin Qin, Pingping Zhang, Jinjun Li, Lin Wei, Xiaomei Zhou, Hongnian Li, Xiaokun Qiu, Fei Zhong, Liping He, Jian Yu, Genfu Yao, Huiqiu Jiang, Lianfang Qian, Ye Yu, Huiqun Shu, Xianlian Chen, Huili Xu, Minglei Guo, Zhimei Pan, Yan Chen, Chao Ge, Shengli Yang, Jianren Gu

Proc Natl Acad Sci U S A. 2004 Nov 2; 101(44): 15724–15729. Published online 2004 Oct 21. doi: 10.1073/pnas.0404089101

Correction in:: Proc Natl Acad Sci U S A. 2004 Dec 14; 101(50): 17565.

PMCID:: PMC524842

Abstract Article PDF–245K

Select item 676379117.

Systematic Affinity Purification Coupled to Mass Spectrometry Identified p62 as Part of the Cannabinoid Receptor CB2 Interactome

Ahmed Sharaf, Leonore Mensching, Christina Keller, Sebastian Rading, Marina Scheffold, Lysann Palkowitsch, Nevena Djogo, Meriem Rezgaoui, Hans A. Kestler, Barbara Moepps, Antonio Virgilio Failla, Meliha Karsak

Front Mol Neurosci. 2019; 12: 224. Published online 2019 Sep 20. doi: 10.3389/fnmol.2019.00224

PMCID:: PMC6763791

Abstract Article PDF–3.6M

Select item 379502518.

A Target-Disease Network Model of Second-Generation BCR-ABL Inhibitor Action in Ph+ ALL

Uwe Rix, Jacques Colinge, Katharina Blatt, Manuela Gridling, Lily L. Remsing Rix, Katja Parapatics, Sabine Cerny-Reiterer, Thomas R. Burkard, Ulrich Jäger, Junia V. Melo, Keiryn L. Bennett, Peter Valent, Giulio Superti-Furga

PLoS One. 2013; 8(10): e77155. Published online 2013 Oct 10. doi: 10.1371/journal.pone.0077155

PMCID:: PMC3795025

Abstract Article PDF–1.3M

Select item 330799119.

Comparative kinome analysis to identify putative colon tumor biomarkers

Ewa E. Hennig, Michal Mikula, Tymon Rubel, Michal Dadlez, Jerzy Ostrowski

J Mol Med (Berl) 2012; 90(4): 447–456. Published online 2011 Nov 18. doi: 10.1007/s00109-011-0831-6

PMCID:: PMC3307991

Abstract Article PDF–928K

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