PMC Links for Gene (Select 593) - PMC

Nicki Tiffin, Euan Adie, Frances Turner, Han G. Brunner, Marc A. van Driel, Martin Oti, Nuria Lopez-Bigas, Christos Ouzounis, Carolina Perez-Iratxeta, Miguel A. Andrade-Navarro, Adebowale Adeyemo, Mary Elizabeth Patti, Colin A. M. Semple, Winston Hide

Nucleic Acids Res. 2006; 34(10): 3067–3081. Published online 2006 Jun 6. doi: 10.1093/nar/gkl381

PMCID:: PMC1475747

Abstract Article PDF–248K

Select item 3038396.

Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease.

B Zhang, H J Edenberg, D W Crabb, R A Harris

J Clin Invest. 1989 Apr; 83(4): 1425–1429. doi: 10.1172/JCI114033

PMCID:: PMC303839

Summary Page Browse PDF–1.0M

Select item 2955137.

Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex.

C R Fisher, J L Chuang, R P Cox, C W Fisher, R A Star, D T Chuang

J Clin Invest. 1991 Sep; 88(3): 1034–1037. doi: 10.1172/JCI115363

PMCID:: PMC295513

Summary Page Browse PDF–916K

Select item 37041658.

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

Gaia Novarino, Paul El-Fishawy, Hulya Kayserili, Nagwa A. Meguid, Eric M. Scott, Jana Schroth, Jennifer L. Silhavy, Majdi Kara, Rehab O. Khalil, Tawfeg Ben-Omran, A. Gulhan Ercan-Sencicek, Adel F. Hashish, Stephan J. Sanders, Abha R. Gupta, Hebatalla S. Hashem, Dietrich Matern, Stacey Gabriel, Larry Sweetman, Yasmeen Rahimi, Robert A. Harris, Matthew W. State, Joseph G. Gleeson

Science. Author manuscript; available in PMC 2013 Jul 8.

Published in final edited form as: Science. 2012 Oct 19; 338(6105): 394–397. Published online 2012 Sep 6. doi: 10.1126/science.1224631

PMCID:: PMC3704165

Abstract Article PDF–1.6M

Select item 19183489.

Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex.

J. L. Chuang, C. R. Fisher, R. P. Cox, D. T. Chuang

Am J Hum Genet. 1994 Aug; 55(2): 297–304.

PMCID:: PMC1918348

Summary Page Browse PDF–1.6M

Select item 44142710.

Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients.

J L Chuang, J R Davie, J M Chinsky, R M Wynn, R P Cox, D T Chuang

J Clin Invest. 1995 Mar; 95(3): 954–963. doi: 10.1172/JCI117804

PMCID:: PMC441427

Summary Page Browse PDF–2.7M

Select item 392630311.

WWP2 is an E3 ubiquitin ligase for PTEN

Subbareddy Maddika, Sridhar Kavela, Neelam Rani, Vivek Reddy Palicharla, Jenny L. Pokorny, Jann N. Sarkaria, Junjie Chen

Nat Cell Biol. Author manuscript; available in PMC 2014 Feb 17.

Published in final edited form as: Nat Cell Biol. 2011 Jun; 13(6): 728–733. Published online 2011 May 1. doi: 10.1038/ncb2240

PMCID:: PMC3926303

Abstract Article PDF–1.6M

Select item 507651912.

Destabilization of Atoh1 by E3 Ubiquitin Ligase Huwe1 and Casein Kinase 1 Is Essential for Normal Sensory Hair Cell Development

Yen-Fu Cheng, Mingjie Tong, Albert S. B. Edge

J Biol Chem. 2016 Sep 30; 291(40): 21096–21109. Published online 2016 Aug 19. doi: 10.1074/jbc.M116.722124

PMCID:: PMC5076519

Abstract Article PDF–3.4M

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

Abstract Article PDF–310K

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 794896415.

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

PMCID:: PMC7948964

Abstract Article PDF–2.7M

Select item 630048716.

Delineating WWOX Protein Interactome by Tandem Affinity Purification-Mass Spectrometry: Identification of Top Interactors and Key Metabolic Pathways Involved

Tabish Hussain, Jaeho Lee, Martin C. Abba, Junjie Chen, C. Marcelo Aldaz

Front Oncol. 2018; 8: 591. Published online 2018 Dec 13. doi: 10.3389/fonc.2018.00591

PMCID:: PMC6300487

Abstract Article PDF–1.8M

Select item 499245617.

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 875541918.

Host E3 ligase HUWE1 attenuates the proapoptotic activity of the MERS-CoV accessory protein ORF3 by promoting its ubiquitin-dependent degradation

Yuzheng Zhou, Rong Zheng, Sixu Liu, Cyrollah Disoma, Ashuai Du, Shiqin Li, Zongpeng Chen, Zijun Dong, Yongxing Zhang, Sijia Li, Pinjia Liu, Aroona Razzaq, Xuan Chen, Yujie Liao, Siyi Tao, Yuxin Liu, Lunan Xu, Qianjun Zhang, Jian Peng, Xu Deng, Shanni Li, Taijiao Jiang, Zanxian Xia

J Biol Chem. 2022 Feb; 298(2): 101584. Published online 2022 Jan 13. doi: 10.1016/j.jbc.2022.101584

PMCID:: PMC8755419

Abstract Article PDF–3.5M

Select item 796055019.

USP11 mediates repair of DNA–protein cross-links by deubiquitinating SPRTN metalloprotease

Megan Perry, Meghan Biegert, Sai Sundeep Kollala, Halle Mallard, Grace Su, Manohar Kodavati, Natasha Kreiling, Alexander Holbrook, Gargi Ghosal

J Biol Chem. 2021 Jan-Jun; 296: 100396. Published online 2021 Feb 7. doi: 10.1016/j.jbc.2021.100396

PMCID:: PMC7960550

Abstract Article PDF–1.5M

Select item 552513320.

Prohibitin 1 regulates tumor cell apoptosis via the interaction with X-linked inhibitor of apoptosis protein

Yingjie Xu, Wen Yang, Jinjun Shi, Bruce R. Zetter

J Mol Cell Biol. 2016 Jun; 8(3): 282–285. Published online 2016 Jul 7. doi: 10.1093/jmcb/mjw018

PMCID:: PMC5525133

Article PDF–1.9M

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