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Select item 109682521.

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

Abstract Article PDF–3.0M

Select item 107580922.

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

Abstract Article PDF–12M

Select item 102374223.

TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing

Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan

Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233

PMCID:: PMC10237422

Abstract Article PDF–23M

Select item 94798904.

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

Abstract Article PDF–1.3M

Select item 92411415.

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

Abstract Article PDF–1.0M

Select item 81650306.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 75237067.

Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis

Katrin Tiemann, Carolina Garri, Sang Bok Lee, Paymaneh D. Malihi, Mincheol Park, Ruth M. Alvarez, Li Peng Yap, Parag Mallick, Jonathan E. Katz, Mitchell E. Gross, Kian Kani

Oncogene. Author manuscript; available in PMC 2020 Sep 29.

Published in final edited form as: Oncogene. 2019 Apr; 38(16): 3003–3018. Published online 2018 Dec 21. doi: 10.1038/s41388-018-0638-9

PMCID:: PMC7523706

Abstract Article PDF–2.3M

Select item 69277548.

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

Abstract Article PDF–5.1M

Select item 66279839.

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

Abstract Article PDF–7.7M

Select item 630950010.

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

Abstract Article PDF–1.1M

Select item 598669411.

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

Abstract Article PDF–1.2M

Select item 559102912.

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

Abstract Article PDF–785K

Select item 553161113.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 548297414.

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

Abstract Article

Select item 461721115.

The BioPlex Network: A Systematic Exploration of the Human Interactome

Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2016 Jul 16.

Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043