PMC Links for Gene (Select 56997) - PMC

Links from Gene

Items: 1 to 20 of 55

<< First< Prev

Page of 3

Select item 78776901.

Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A‐Ataxia: A Multicenter Study of 59 Patients

Andreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, Nathan H. Murray, Craig A. Bingman, Selina Reich, Jan Kern, Anna Heinzmann, Gessica Vasco, Enrico Bertini, Ginevra Zanni, Alexandra Durr, Stefania Magri, Franco Taroni, Alessandro Malandrini, Jonathan Baets, Peter de Jonghe, Willem de Ridder, Matthieu Bereau, Stephanie Demuth, Christos Ganos, A. Nazli Basak, Hasmet Hanagasi, Semra Hiz Kurul, Benjamin Bender, Ludger Schöls, Ute Grasshoff, Thomas Klopstock, Rita Horvath, Bart van de Warrenburg, Lydie Burglen, Christelle Rougeot, Claire Ewenczyk, Michel Koenig, Filippo M. Santorelli, Mathieu Anheim, Renato P. Munhoz, Tobias Haack, Felix Distelmaier, David J. Pagliarini, Hélène Puccio, Matthis Synofzik

Ann Neurol. 2020 Aug; 88(2): 251–263. Published online 2020 Jun 10. doi: 10.1002/ana.25751

PMCID:: PMC7877690

Abstract Article PDF–7.6M

Select item 41953742.

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 24271933.

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 30753504.

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 24272985.

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 81750866.

A subcellular map of the human kinome

Haitao Zhang, Xiaolei Cao, Mei Tang, Guoxuan Zhong, Yuan Si, Haidong Li, Feifeng Zhu, Qinghua Liao, Liuju Li, Jianhui Zhao, Jia Feng, Shuaifeng Li, Chenliang Wang, Manuel Kaulich, Fangwei Wang, Liangyi Chen, Li Li, Zongping Xia, Tingbo Liang, Huasong Lu, Xin-Hua Feng, Bin Zhao

eLife. 2021; 10: e64943. Published online 2021 May 14. doi: 10.7554/eLife.64943

PMCID:: PMC8175086

Abstract Article PDF–7.3M

Select item 42894737.

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 50124278.

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 47510829.

AarF Domain Containing Kinase 3 (ADCK3) Mutant Cells Display Signs of Oxidative Stress, Defects in Mitochondrial Homeostasis and Lysosomal Accumulation

Jason K. Cullen, Norazian Abdul Murad, Abrey Yeo, Matthew McKenzie, Micheal Ward, Kok Leong Chong, Nicole L. Schieber, Robert G. Parton, Yi Chieh Lim, Ernst Wolvetang, Ghassan J. Maghzal, Roland Stocker, Martin F. Lavin

PLoS One. 2016; 11(2): e0148213. Published online 2016 Feb 11. doi: 10.1371/journal.pone.0148213

Correction in:: PLoS One. 2016; 11(7): e0160162.

PMCID:: PMC4751082

Abstract Article PDF–8.2M

Select item 676379110.

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 658469111.

CTDP1 regulates breast cancer survival and DNA repair through BRCT-specific interactions with FANCI

Wen-Feng Hu, Kimiko L. Krieger, Dragana Lagundžin, Xueli Li, Ronald S. Cheung, Toshiyasu Taniguchi, Keith R. Johnson, Tadayoshi Bessho, Alvaro N. A. Monteiro, Nicholas T. Woods

Cell Death Discov. 2019; 5: 105. Published online 2019 Jun 19. doi: 10.1038/s41420-019-0185-3

PMCID:: PMC6584691

Abstract Article PDF–1.6M

Select item 52484212.

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 675999713.

Interactome of the Autoimmune Risk Protein ANKRD55

Nerea Ugidos, Jorge Mena, Sara Baquero, Iraide Alloza, Mikel Azkargorta, Felix Elortza, Koen Vandenbroeck

Front Immunol. 2019; 10: 2067. Published online 2019 Sep 18. doi: 10.3389/fimmu.2019.02067

PMCID:: PMC6759997

Abstract Article PDF–2.0M

Select item 662002814.

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 284527115.

A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome

Ricarda Richter, Joanna Rorbach, Aleksandra Pajak, Paul M Smith, Hans J Wessels, Martijn A Huynen, Jan A Smeitink, Robert N Lightowlers, Zofia M Chrzanowska-Lightowlers

EMBO J. 2010 Mar 17; 29(6): 1116–1125. Published online 2010 Feb 25. doi: 10.1038/emboj.2010.14

PMCID:: PMC2845271

Abstract Article PDF–1.3M

Select item 794896416.

The deubiquitinase TRABID stabilizes the K29/K48-specific E3 ubiquitin ligase HECTD1

Lee D. Harris, Janic Le Pen, Nico Scholz, Juliusz Mieszczanek, Natalie Vaughan, Simon Davis, Georgina Berridge, Benedikt M. Kessler, Mariann Bienz, Julien D.F. Licchesi

J Biol Chem. 2021 Jan-Jun; 296: 100246. Published online 2021 Jan 8. doi: 10.1074/jbc.RA120.015162