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Items: 1 to 20 of 29

1.
Characteristics of Developmental and Epileptic Encephalopathy Associated with PACS2 p.Glu209Lys Pathogenic Variant—Our Experience and Systematic Review of the Literature
Adina Stoian, Zoltan Bajko, Rodica Bălașa, Sebastian Andone, Mircea Stoian, Ioana Ormenișan, Carmen Muntean, Claudia Bănescu
Biomolecules. 2024 Mar; 14(3): 270. Published online 2024 Feb 23. doi: 10.3390/biom14030270
PMCID:
PMC10968252
AbstractArticlePDF–3.0M
2.
The Multifunctional Sorting Protein PACS-2 Controls Mitophagosome Formation in Human Vascular Smooth Muscle Cells through Mitochondria-ER Contact Sites
Manon Moulis, Elisa Grousset, Julien Faccini, Kevin Richetin, Gary Thomas, Cecile Vindis
Cells. 2019 Jun; 8(6): 638. Published online 2019 Jun 25. doi: 10.3390/cells8060638
PMCID:
PMC6627983
AbstractArticlePDF–7.7M
3.
Knockdown of circ_0002194 protects against oxidized low-density lipoprotein-induced cell damage via the regulation of the miR-637/PACS2 axis in human vascular endothelial cells
Ruyang Mei, Mei Wu, Fei Ren
Interact Cardiovasc Thorac Surg. 2022 Oct; 35(4): ivac210. Published online 2022 Aug 11. doi: 10.1093/icvts/ivac210
PMCID:
PMC9479890
AbstractArticlePDF–1.3M
4.
Caught in the act – protein adaptation and the expanding roles of the PACS proteins in tissue homeostasis and disease
Gary Thomas, Joseph E. Aslan, Laurel Thomas, Pushkar Shinde, Ujwal Shinde, Thomas Simmen
J Cell Sci. 2017 Jun 1; 130(11): 1865–1876. doi: 10.1242/jcs.199463
PMCID:
PMC5482974
AbstractArticle
5.
The Subcellular Distribution of Calnexin Is Mediated by PACS-2
Nathan Myhill, Emily M. Lynes, Jalal A. Nanji, Anastassia D. Blagoveshchenskaya, Hao Fei, Katia Carmine Simmen, Timothy J. Cooper, Gary Thomas, Thomas Simmen
Mol Biol Cell. 2008 Jul; 19(7): 2777–2788. doi: 10.1091/mbc.E07-10-0995
PMCID:
PMC2441662
AbstractArticlePDF–1.6M
6.
Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes
Stefan H. Lelieveld, Laurens Wiel, Hanka Venselaar, Rolph Pfundt, Gerrit Vriend, Joris A. Veltman, Han G. Brunner, Lisenka E.L.M. Vissers, Christian Gilissen
Am J Hum Genet. 2017 Sep 7; 101(3): 478–484. Published online 2017 Aug 31. doi: 10.1016/j.ajhg.2017.08.004
PMCID:
PMC5591029
AbstractArticlePDF–785K
7.
Tumor Necrosis Factor-related Apoptosis-inducing Ligand (TRAIL) Protein-induced Lysosomal Translocation of Proapoptotic Effectors Is Mediated by Phosphofurin Acidic Cluster Sorting Protein-2 (PACS-2)
Nathan W. Werneburg, Steve F. Bronk, Maria Eugenia Guicciardi, Laurel Thomas, Jimmy D. Dikeakos, Gary Thomas, Gregory J. Gores
J Biol Chem. 2012 Jul 13; 287(29): 24427–24437. Published online 2012 May 29. doi: 10.1074/jbc.M112.342238
PMCID:
PMC3397868
AbstractArticlePDF–2.1M
8.
An interdomain binding site on HIV-1 Nef interacts with PACS-1 and PACS-2 on endosomes to down-regulate MHC-I
Jimmy D. Dikeakos, Laurel Thomas, Grace Kwon, Johannes Elferich, Ujwal Shinde, Gary Thomas
Mol Biol Cell. 2012 Jun 1; 23(11): 2184–2197. doi: 10.1091/mbc.E11-11-0928
PMCID:
PMC3364181
AbstractArticlePDF–5.7M
9.
PACS-2 controls endoplasmic reticulum–mitochondria communication and Bid-mediated apoptosis
Thomas Simmen, Joseph E Aslan, Anastassia D Blagoveshchenskaya, Laurel Thomas, Lei Wan, Yang Xiang, Sylvain F Feliciangeli, Chien-Hui Hung, Colin M Crump, Gary Thomas
EMBO J. 2005 Feb 23; 24(4): 717–729. Published online 2005 Feb 3. doi: 10.1038/sj.emboj.7600559
Correction in:
EMBO J. 2005 Mar 23; 24(6): 1301.
PMCID:
PMC549619
AbstractArticlePDF–763K
10.
MAPK1 Mediates MAM Disruption and Mitochondrial Dysfunction in Diabetic Kidney Disease via the PACS-2-Dependent Mechanism
Shanshan Liu, Shuai Han, Cuili Wang, Hongjun Chen, Qiannan Xu, Shi Feng, Yucheng Wang, Jihong Yao, Qin Zhou, Xuanli Tang, Li Lin, Lidan Hu, Alan J Davidson, Bing Yang, Cunqi Ye, Fan Yang, Jianhua Mao, Chao Tong, Jianghua Chen, Hong Jiang
Int J Biol Sci. 2024; 20(2): 569–584. Published online 2024 Jan 1. doi: 10.7150/ijbs.89291
PMCID:
PMC10758092
AbstractArticlePDF–12M
11.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
Heather E. Olson, Nolwenn Jean-Marçais, Edward Yang, Delphine Heron, Katrina Tatton-Brown, Paul A. van der Zwaag, Emilia K. Bijlsma, Bryan L. Krock, E. Backer, Erik-Jan Kamsteeg, Margje Sinnema, Margot R.F. Reijnders, David Bearden, Amber Begtrup, Aida Telegrafi, Roelineke J. Lunsing, Lydie Burglen, Gaetan Lesca, Megan T. Cho, Lacey A. Smith, Beth R. Sheidley, Christelle Moufawad El Achkar, Phillip L. Pearl, Annapurna Poduri, Cara M. Skraban, Jennifer Tarpinian, Addie I. Nesbitt, Dietje E. Fransen van de Putte, Claudia A.L. Ruivenkamp, Patrick Rump, Nicolas Chatron, Isabelle Sabatier, Julitta De Bellescize, Laurent Guibaud, David A. Sweetser, Jessica L. Waxler, Klaas J. Wierenga, DDD Study, Jean Donadieu, Vinodh Narayanan, Keri M. Ramsey, C4RCD Research Group, Caroline Nava, Jean-Baptiste Rivière, Antonio Vitobello, Frédéric Tran Mau-Them, Christophe Philippe, Ange-Line Bruel, Yannis Duffourd, Laurel Thomas, Stefan H. Lelieveld, Janneke Schuurs-Hoeijmakers, Han G. Brunner, Boris Keren, Julien Thevenon, Laurence Faivre, Gary Thomas, Christel Thauvin-Robinet
Am J Hum Genet. 2018 May 3; 102(5): 995–1007. Published online 2018 Apr 12. doi: 10.1016/j.ajhg.2018.03.005
Correction in:
Am J Hum Genet. 2018 Oct 4; 103(4): 631.
PMCID:
PMC5986694
AbstractArticlePDF–1.2M
12.
WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins
Elena A. Sorokina, Linda M. Reis, Samuel Thompson, Katherine Agre, Dusica Babovic-Vuksanovic, Marissa S. Ellingson, Linda Hasadsri, Yolande van Bever, Elena V. Semina
Hum Genet. Author manuscript; available in PMC 2022 Dec 1.
Published in final edited form as: Hum Genet. 2021 Dec; 140(12): 1775–1789. Published online 2021 Oct 12. doi: 10.1007/s00439-021-02384-y
PMCID:
PMC9241141
AbstractArticlePDF–1.0M
13.
An insulin responsive sensor in the SIRT1 disordered region binds DBC1 and PACS-2 to control enzyme activity
Troy C. Krzysiak, Laurel Thomas, You-Jin Choi, Sylvain Auclair, Yiqi Qian, Shan Luan, Stephanie M. Krasnow, Laura L. Thomas, Leonardus M.I. Koharudin, Panayiotis V. Benos, Daniel L. Marks, Angela M. Gronenborn, Gary Thomas
Mol Cell. Author manuscript; available in PMC 2019 Dec 20.
Published in final edited form as: Mol Cell. 2018 Dec 20; 72(6): 985–998.e7. Published online 2018 Nov 8. doi: 10.1016/j.molcel.2018.10.007
PMCID:
PMC6309500
AbstractArticlePDF–1.1M
14.
Akt and 14-3-3 control a PACS-2 homeostatic switch that integrates membrane traffic with TRAIL-induced apoptosis
Joseph E. Aslan, Huihong You, Danielle M. Williamson, Jessica Endig, Robert T. Youker, Laurel Thomas, Hongjun Shu, Yuhong Du, Robert L. Milewski, Matthew H. Brush, Anthony Possemato, Kam Sprott, Haian Fu, Kenneth D. Greis, Douglas N. Runckel, Arndt Vogel, Gary Thomas
Mol Cell. Author manuscript; available in PMC 2010 May 14.
Published in final edited form as: Mol Cell. 2009 May 14; 34(4): 497–509. doi: 10.1016/j.molcel.2009.04.011
PMCID:
PMC2744858
AbstractArticlePDF–3.4M
15.
Cellular Inhibitor of Apoptosis (cIAP)-Mediated Ubiquitination of Phosphofurin Acidic Cluster Sorting Protein 2 (PACS-2) Negatively Regulates Tumor Necrosis Factor-Related Apoptosis-Inducing Ligand (TRAIL) Cytotoxicity
Maria Eugenia Guicciardi, Nathan W. Werneburg, Steven F. Bronk, Adrian Franke, Hideo Yagita, Gary Thomas, Gregory J. Gores
PLoS One. 2014; 9(3): e92124. Published online 2014 Mar 14. doi: 10.1371/journal.pone.0092124
PMCID:
PMC3954888
AbstractArticlePDF–892K
16.
Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation
Michael Köttgen, Thomas Benzing, Thomas Simmen, Robert Tauber, Björn Buchholz, Sylvain Feliciangeli, Tobias B Huber, Bernhard Schermer, Albrecht Kramer-Zucker, Katja Höpker, Katia Carmine Simmen, Christoph Carl Tschucke, Richard Sandford, Emily Kim, Gary Thomas, Gerd Walz
EMBO J. 2005 Feb 23; 24(4): 705–716. Published online 2005 Feb 3. doi: 10.1038/sj.emboj.7600566
PMCID:
PMC549624
AbstractArticlePDF–519K
17.
HIV-1 Nef Binds PACS-2 to Assemble a Multikinase Cascade That Triggers Major Histocompatibility Complex Class I (MHC-I) Down-regulation: ANALYSIS USING SHORT INTERFERING RNA AND KNOCK-OUT MICE
Katelyn M. Atkins, Laurel Thomas, Robert T. Youker, Melanie J. Harriff, Franco Pissani, Huihong You, Gary Thomas
J Biol Chem. 2008 Apr 25; 283(17): 11772–11784. doi: 10.1074/jbc.M707572200
PMCID:
PMC2431057
AbstractArticlePDF–777K
18.
Modulation of HIV pathogenesis and T-cell signaling by HIV-1 Nef
Shailendra K Saxena, Gaurav Shrivastava, Sneham Tiwari, ML Arvinda Swamy, Madhavan PN Nair
Future Virol. Author manuscript; available in PMC 2013 Apr 1.
Published in final edited form as: Future Virol. 2012 Jun 1; 7(6): 609–620. doi: 10.2217/FVL.12.42
PMCID:
PMC3404840
AbstractArticlePDF–1.4M
19.
Genome-wide CRISPR screening reveals genetic modifiers of mutant EGFR dependence in human NSCLC
Hao Zeng, Johnny Castillo-Cabrera, Mika Manser, Bo Lu, Zinger Yang, Vaik Strande, Damien Begue, Raffaella Zamponi, Shumei Qiu, Frederic Sigoillot, Qiong Wang, Alicia Lindeman, John S Reece-Hoyes, Carsten Russ, Debora Bonenfant, Xiaomo Jiang, Youzhen Wang, Feng Cong
eLife. 2019; 8: e50223. Published online 2019 Nov 19. doi: 10.7554/eLife.50223
PMCID:
PMC6927754
AbstractArticlePDF–5.1M
20.
Large-scale characterization of HeLa cell nuclear phosphoproteins
Sean A. Beausoleil, Mark Jedrychowski, Daniel Schwartz, Joshua E. Elias, Judit Villén, Jiaxu Li, Martin A. Cohn, Lewis C. Cantley, Steven P. Gygi
Proc Natl Acad Sci U S A. 2004 Aug 17; 101(33): 12130–12135. Published online 2004 Aug 9. doi: 10.1073/pnas.0404720101
PMCID:
PMC514446
AbstractArticlePDF–475K

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