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Select item 71411161.

A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)

Emanuela Leonardi, Mariagrazia Bellini, Maria C. Aspromonte, Roberta Polli, Anna Mercante, Claudia Ciaccio, Elisa Granocchio, Elisa Bettella, Ilaria Donati, Elisa Cainelli, Stefania Boni, Stefano Sartori, Chiara Pantaleoni, Clementina Boniver, Alessandra Murgia

Genes (Basel) 2020 Mar; 11(3): 344. Published online 2020 Mar 24. doi: 10.3390/genes11030344

PMCID:: PMC7141116

Abstract Article PDF–1.2M

Select item 80567522.

Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript

Lara Wahlster, Jeffrey M. Verboon, Leif S. Ludwig, Susan C. Black, Wendy Luo, Kopal Garg, Richard A. Voit, Ryan L. Collins, Kiran Garimella, Maura Costello, Katherine R. Chao, Julia K. Goodrich, Stephanie P. DiTroia, Anne O’Donnell-Luria, Michael E. Talkowski, Alan D. Michelson, Alan B. Cantor, Vijay G. Sankaran

J Exp Med. 2021 Jun 7; 218(6): e20210444. Published online 2021 Apr 15. doi: 10.1084/jem.20210444

PMCID:: PMC8056752

Abstract Article PDF–3.1M

Select item 49706943.

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

Dorien Lugtenberg, Margot R F Reijnders, Michaela Fenckova, Emilia K Bijlsma, Raphael Bernier, Bregje W M van Bon, Eric Smeets, Anneke T Vulto-van Silfhout, Danielle Bosch, Evan E Eichler, Heather C Mefford, Gemma L Carvill, Ernie M H F Bongers, Janneke HM Schuurs-Hoeijmakers, Claudia A Ruivenkamp, Gijs W E Santen, Arn M J M van den Maagdenberg, Cacha M P C D Peeters-Scholte, Sabine Kuenen, Patrik Verstreken, Rolph Pfundt, Helger G Yntema, Petra F de Vries, Joris A Veltman, Alexander Hoischen, Christian Gilissen, Bert B A de Vries, Annette Schenck, Tjitske Kleefstra, Lisenka E L M Vissers

Eur J Hum Genet. 2016 Aug; 24(8): 1145–1153. Published online 2016 Jan 13. doi: 10.1038/ejhg.2015.282

PMCID:: PMC4970694

Abstract Article PDF–1.1M

Select item 46912414.

Activation of ULK Kinase and Autophagy by GABARAP Trafficking from the Centrosome Is Regulated by WAC and GM130

Justin Joachim, Harold B.J. Jefferies, Minoo Razi, David Frith, Ambrosius P. Snijders, Probir Chakravarty, Delphine Judith, Sharon A. Tooze

Mol Cell. 2015 Dec 17; 60(6): 899–913. doi: 10.1016/j.molcel.2015.11.018

PMCID:: PMC4691241

Abstract Article PDF–5.9M

Select item 42146355.

De Novo Mutations in Moderate or Severe Intellectual Disability

Fadi F. Hamdan, Myriam Srour, Jose-Mario Capo-Chichi, Hussein Daoud, Christina Nassif, Lysanne Patry, Christine Massicotte, Amirthagowri Ambalavanan, Dan Spiegelman, Ousmane Diallo, Edouard Henrion, Alexandre Dionne-Laporte, Anne Fougerat, Alexey V. Pshezhetsky, Sunita Venkateswaran, Guy A. Rouleau, Jacques L. Michaud

PLoS Genet. 2014 Oct; 10(10): e1004772. Published online 2014 Oct 30. doi: 10.1371/journal.pgen.1004772

PMCID:: PMC4214635

Abstract Article PDF–559K

Select item 80451506.

Ring finger 20/ring finger 40/WW domain-containing adaptor with coiled-coil complex interacts with p53 to regulate gene transcription in DNA damage response

Danni Meng, Kun Guo, Die Zhang, Cheng Zhao, Chuanwen Sun, Feng Zhang

Oncol Lett. 2021 Jun; 21(6): 436. Published online 2021 Apr 1. doi: 10.3892/ol.2021.12697

PMCID:: PMC8045150

Abstract Article PDF–3.0M

Select item 30621667.

WAC, a functional partner of RNF20/40, regulates histone H2B ubiquitination and gene transcription

Feng Zhang, Xiaochun Yu

Mol Cell. Author manuscript; available in PMC 2012 Feb 18.

Published in final edited form as: Mol Cell. 2011 Feb 18; 41(4): 384–397. doi: 10.1016/j.molcel.2011.01.024

PMCID:: PMC3062166

Abstract Article PDF–2.9M

Select item 50073798.

Ubiquitin ligase RNF20/40 facilitates spindle assembly and promotes breast carcinogenesis through stabilizing motor protein Eg5

Yang Duan, Dawei Huo, Jie Gao, Heng Wu, Zheng Ye, Zhe Liu, Kai Zhang, Lin Shan, Xing Zhou, Yue Wang, Dongxue Su, Xiang Ding, Lei Shi, Yan Wang, Yongfeng Shang, Chenghao Xuan

Nat Commun. 2016; 7: 12648. Published online 2016 Aug 25. doi: 10.1038/ncomms12648

Correction in:: Nat Commun. 2016; 7: 13462.

PMCID:: PMC5007379

Abstract Article PDF–3.5M

Select item 31814899.

VCIP135 deubiquitinase and its binding protein, WAC, in p97ATPase-mediated membrane fusion

Go Totsukawa, Yayoi Kaneko, Keiji Uchiyama, Hiroyuki Toh, Kaori Tamura, Hisao Kondo

EMBO J. 2011 Aug 31; 30(17): 3581–3593. Published online 2011 Aug 2. doi: 10.1038/emboj.2011.260

PMCID:: PMC3181489

Abstract Article PDF–1.9M

Select item 550170110.

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

Ryan KC Yuen, Daniele Merico, Matt Bookman, Jennifer L Howe, Bhooma Thiruvahindrapuram, Rohan V Patel, Joe Whitney, Nicole Deflaux, Jonathan Bingham, Zhuozhi Wang, Giovanna Pellecchia, Janet A Buchanan, Susan Walker, Christian R Marshall, Mohammed Uddin, Mehdi Zarrei, Eric Deneault, Lia D’Abate, Ada JS Chan, Stephanie Koyanagi, Tara Paton, Sergio L Pereira, Ny Hoang, Worrawat Engchuan, Edward J Higginbotham, Karen Ho, Sylvia Lamoureux, Weili Li, Jeffrey R MacDonald, Thomas Nalpathamkalam, Wilson WL Sung, Fiona J Tsoi, John Wei, Lizhen Xu, Anne-Marie Tasse, Emily Kirby, William Van Etten, Simon Twigger, Wendy Roberts, Irene Drmic, Sanne Jilderda, Bonnie MacKinnon Modi, Barbara Kellam, Michael Szego, Cheryl Cytrynbaum, Rosanna Weksberg, Lonnie Zwaigenbaum, Marc Woodbury-Smith, Jessica Brian, Lili Senman, Alana Iaboni, Krissy Doyle-Thomas, Ann Thompson, Christina Chrysler, Jonathan Leef, Tal Savion-Lemieux, Isabel M Smith, Xudong Liu, Rob Nicolson, Vicki Seifer, Angie Fedele, Edwin H Cook, Stephen Dager, Annette Estes, Louise Gallagher, Beth A Malow, Jeremy R Parr, Sarah J Spence, Jacob Vorstman, Brendan J Frey, James T Robinson, Lisa J Strug, Bridget A Fernandez, Mayada Elsabbagh, Melissa T Carter, Joachim Hallmayer, Bartha M Knoppers, Evdokia Anagnostou, Peter Szatmari, Robert H Ring, David Glazer, Mathew T Pletcher, Stephen W Scherer

Nat Neurosci. Author manuscript; available in PMC 2017 Oct 1.

Published in final edited form as: Nat Neurosci. 2017 Apr; 20(4): 602–611. Published online 2017 Mar 6. doi: 10.1038/nn.4524

PMCID:: PMC5501701

Abstract Article PDF–1.3M

Select item 334332711.

Genome-wide siRNA screen reveals amino acid starvation-induced autophagy requires SCOC and WAC

Nicole C McKnight, Harold B J Jefferies, Endalkachew A Alemu, Rebecca E Saunders, Michael Howell, Terje Johansen, Sharon A Tooze

EMBO J. 2012 Apr 18; 31(8): 1931–1946. Published online 2012 Feb 21. doi: 10.1038/emboj.2012.36

PMCID:: PMC3343327

Abstract Article PDF–3.4M

Select item 321081212.

Biochemical and Computational Analysis Of LNX1 Interacting Proteins

Cheryl D. Wolting, Emily K. Griffiths, Renu Sarao, Brittany C. Prevost, Leanne E. Wybenga-Groot, C. Jane McGlade

PLoS One. 2011; 6(11): e26248. Published online 2011 Nov 8. doi: 10.1371/journal.pone.0026248

PMCID:: PMC3210812

Abstract Article PDF–1.5M

Select item 434998613.

KCMF1 (potassium channel modulatory factor 1) Links RAD6 to UBR4 (ubiquitin N-recognin domain-containing E3 ligase 4) and Lysosome-Mediated Degradation

Jenny H. Hong, Lilia Kaustov, Etienne Coyaud, Tharan Srikumar, Janet Wan, Cheryl Arrowsmith, Brian Raught

Mol Cell Proteomics. 2015 Mar; 14(3): 674–685. Published online 2015 Jan 12. doi: 10.1074/mcp.M114.042168

PMCID:: PMC4349986

Abstract Article PDF–3.4M

Select item 710960014.

The RNF20/40 complex regulates p53-dependent gene transcription and mRNA splicing

Chen Wu, Yaqi Cui, Xiuhua Liu, Feng Zhang, Lin-Yu Lu, Xiaochun Yu

J Mol Cell Biol. 2020 Feb; 12(2): 113–124. Published online 2019 Jun 1. doi: 10.1093/jmcb/mjz045

PMCID:: PMC7109600

Abstract Article PDF–1.3M

Select item 902051715.

Structural and functional consequences of NEDD8 phosphorylation

Katrin Stuber, Tobias Schneider, Jill Werner, Michael Kovermann, Andreas Marx, Martin Scheffner

Nat Commun. 2021; 12: 5939. Published online 2021 Oct 12. doi: 10.1038/s41467-021-26189-9

PMCID:: PMC9020517

Abstract Article PDF–2.8M

Select item 381265116.

Proteomic analysis of the SIRT6 interactome: novel links to genome maintenance and cellular stress signaling

Federica Simeoni, Luisa Tasselli, Shinji Tanaka, Lidia Villanova, Mayumi Hayashi, Kazuishi Kubota, Fujio Isono, Benjamin A. Garcia, Eriko Michishita-Kioi, Katrin F. Chua

Sci Rep. 2013; 3: 3085. Published online 2013 Oct 30. doi: 10.1038/srep03085

PMCID:: PMC3812651

Abstract Article PDF–1019K

Select item 596114117.

Stabilization of the methyl-CpG binding protein ZBTB38 by the deubiquitinase USP9X limits the occurrence and toxicity of oxidative stress in human cells

Benoit Miotto, Claire Marchal, Guillaume Adelmant, Nadège Guinot, Ping Xie, Jarrod A Marto, Lingqiang Zhang, Pierre-Antoine Defossez

Nucleic Acids Res. 2018 May 18; 46(9): 4392–4404. Published online 2018 Feb 27. doi: 10.1093/nar/gky149

PMCID:: PMC5961141

Abstract Article PDF–2.1M

Select item 727904918.

EDEM1 Drives Misfolded Protein Degradation via ERAD and Exploits ER-Phagy as Back-Up Mechanism When ERAD Is Impaired

Marioara Chiritoiu, Gabriela N. Chiritoiu, Cristian V. A. Munteanu, Florin Pastrama, N. Erwin Ivessa, Stefana M. Petrescu

Int J Mol Sci. 2020 May; 21(10): 3468. Published online 2020 May 14. doi: 10.3390/ijms21103468

PMCID:: PMC7279049

Abstract Article PDF–12M

Select item 408237219.

The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease

Stefanie L. Butland, Shaun S. Sanders, Mandi E. Schmidt, Sean-Patrick Riechers, David T.S. Lin, Dale D.O. Martin, Kuljeet Vaid, Rona K. Graham, Roshni R. Singaraja, Erich E. Wanker, Elizabeth Conibear, Michael R. Hayden

Hum Mol Genet. 2014 Aug 1; 23(15): 4142–4160. Published online 2014 Apr 4. doi: 10.1093/hmg/ddu137

PMCID:: PMC4082372

Abstract Article PDF–1.7M

Select item 186635220.

Huntingtin Interacting Proteins Are Genetic Modifiers of Neurodegeneration

Linda S Kaltenbach, Eliana Romero, Robert R Becklin, Rakesh Chettier, Russell Bell, Amit Phansalkar, Andrew Strand, Cameron Torcassi, Justin Savage, Anthony Hurlburt, Guang-Ho Cha, Lubna Ukani, Cindy Lou Chepanoske, Yuejun Zhen, Sudhir Sahasrabudhe, James Olson, Cornelia Kurschner, Lisa M Ellerby, John M Peltier, Juan Botas, Robert E Hughes

PLoS Genet. 2007 May; 3(5): e82. Published online 2007 May 11. doi: 10.1371/journal.pgen.0030082

PMCID:: PMC1866352

Abstract Article PDF–1.2M

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