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Select item 108730441.

Mouse models of human CNTNAP1-associated congenital hypomyelinating neuropathy and genetic restoration of murine neurological deficits

Cheng Chang, Lacey B. Sell, Qian Shi, Manzoor A. Bhat

Cell Rep. Author manuscript; available in PMC 2024 Feb 16.

Published in final edited form as: Cell Rep. 2023 Oct 31; 42(10): 113274. Published online 2023 Oct 19. doi: 10.1016/j.celrep.2023.113274

PMCID:: PMC10873044

Abstract Article PDF–4.5M

Select item 102374222.

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 93485763.

Chr21 protein–protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer’s disease

Julia Viard, Yann Loe-Mie, Rachel Daudin, Malik Khelfaoui, Christine Plancon, Anne Boland, Francisco Tejedor, Richard L Huganir, Eunjoon Kim, Makoto Kinoshita, Guofa Liu, Volker Haucke, Thomas Moncion, Eugene Yu, Valérie Hindie, Henri Bléhaut, Clotilde Mircher, Yann Herault, Jean-François Deleuze, Jean-Christophe Rain, Michel Simonneau, Aude-Marie Lepagnol-Bestel

Life Sci Alliance. 2022 Dec; 5(12): e202101205. Published online 2022 Aug 1. doi: 10.26508/lsa.202101205

PMCID:: PMC9348576

Abstract Article PDF–3.0M

Select item 92316234.

ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1

Boris Simonetti, James L. Daly, Lorena Simón-Gracia, Katja Klein, Saroja Weeratunga, Carlos Antón-Plágaro, Allan Tobi, Lorna Hodgson, Philip A. Lewis, Kate J. Heesom, Deborah K. Shoemark, Andrew D. Davidson, Brett M. Collins, Tambet Teesalu, Yohei Yamauchi, Peter J. Cullen

Proc Natl Acad Sci U S A. 2022 Jun 21; 119(25): e2201980119. Published online 2022 Jun 13. doi: 10.1073/pnas.2201980119

PMCID:: PMC9231623

Abstract Article PDF–6.0M

Select item 91197365.

OpenCell: proteome-scale endogenous tagging enables the cartography of human cellular organization

Nathan H. Cho, Keith C. Cheveralls, Andreas-David Brunner, Kibeom Kim, André C. Michaelis, Preethi Raghavan, Hirofumi Kobayashi, Laura Savy, Jason Y. Li, Hera Canaj, James Y.S. Kim, Edna M. Stewart, Christian Gnann, Frank McCarthy, Joana P. Cabrera, Rachel M. Brunetti, Bryant B. Chhun, Greg Dingle, Marco Y. Hein, Bo Huang, Shalin B. Mehta, Jonathan S. Weissman, Rafael Gómez-Sjöberg, Daniel N. Itzhak, Loic A. Royer, Matthias Mann, Manuel D. Leonetti

Science. Author manuscript; available in PMC 2022 Sep 11.

Published in final edited form as: Science. 2022 Mar 11; 375(6585): eabi6983. Published online 2022 Mar 11. doi: 10.1126/science.abi6983

PMCID:: PMC9119736

Abstract Article PDF–3.3M

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 79629947.

LRRC31 inhibits DNA repair and sensitizes breast cancer brain metastasis to radiation therapy

Yanke Chen, Ting Jiang, Hongyi Zhang, Xingchun Gou, Cong Han, Jianhui Wang, Ann T. Chen, Jun Ma, Jun Liu, Zeming Chen, Xintao Jing, Hong Lei, Zhenzhen Wang, Youmei Bao, Mehdi Baqri, Yong Zhu, Ranjit S. Bindra, James E. Hansen, Jun Dou, Chen Huang, Jiangbing Zhou

Nat Cell Biol. Author manuscript; available in PMC 2021 Apr 1.

Published in final edited form as: Nat Cell Biol. 2020 Oct; 22(10): 1276–1285. Published online 2020 Oct 1. doi: 10.1038/s41556-020-00586-6

PMCID:: PMC7962994

Abstract Article PDF–5.5M

Select item 77102808.

Mutations of CNTNAP1 led to defects in neuronal development

Wanxing Li, Lin Yang, Chuanqing Tang, Kaiyi Liu, Yulan Lu, Huijun Wang, Kai Yan, Zilong Qiu, Wenhao Zhou

JCI Insight. 2020 Nov 5; 5(21): e135697. Published online 2020 Nov 5. doi: 10.1172/jci.insight.135697

PMCID:: PMC7710280

Abstract Article PDF–63M

Select item 74273279.

Kinase Interaction Network Expands Functional and Disease Roles of Human Kinases

Marija Buljan, Rodolfo Ciuffa, Audrey van Drogen, Anton Vichalkovski, Martin Mehnert, George Rosenberger, Sohyon Lee, Markku Varjosalo, Lucia Espona Pernas, Vincent Spegg, Berend Snijder, Ruedi Aebersold, Matthias Gstaiger

Mol Cell. 2020 Aug 6; 79(3): 504–520.e9. doi: 10.1016/j.molcel.2020.07.001

PMCID:: PMC7427327

Abstract Article

Select item 648411710.

A CASPR1–ATP1B3 protein interaction modulates plasma membrane localization of Na⁺/K⁺-ATPase in brain microvascular endothelial cells

Shu-Hong Zhang, Dong-Xin Liu, Li Wang, Yu-Hua Li, Yan-Hua Wang, Hu Zhang, Zheng-Kang Su, Wen-Gang Fang, Xiao-Xue Qin, De-Shu Shang, Bo Li, Xiao-Ning Han, Wei-Dong Zhao, Yu-Hua Chen

J Biol Chem. 2019 Apr 19; 294(16): 6375–6386. Published online 2019 Feb 21. doi: 10.1074/jbc.RA118.006263

PMCID:: PMC6484117

Abstract Article PDF–2.3M

Select item 639437211.

Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region

Jean-Michel Vallat, Mathilde Nizon, Alex Magee, Bertrand Isidor, Laurent Magy, Yann Péréon, Laurence Richard, Robert Ouvrier, Benjamin Cogné, Jérôme Devaux, Stephan Zuchner, Stéphane Mathis

J Neuropathol Exp Neurol. 2016 Dec; 75(12): 1155–1159. Published online 2016 Nov 5. doi: 10.1093/jnen/nlw093

PMCID:: PMC6394372

Abstract Article PDF–662K

Select item 599768212.

Caspr1 is a host receptor for meningitis-causing Escherichia coli

Wei-Dong Zhao, Dong-Xin Liu, Jia-Yi Wei, Zi-Wei Miao, Ke Zhang, Zheng-Kang Su, Xue-Wei Zhang, Qiang Li, Wen-Gang Fang, Xiao-Xue Qin, De-Shu Shang, Bo Li, Qing-Chang Li, Liu Cao, Kwang Sik Kim, Yu-Hua Chen

Nat Commun. 2018; 9: 2296. Published online 2018 Jun 12. doi: 10.1038/s41467-018-04637-3

PMCID:: PMC5997682

Abstract Article PDF–2.6M

Select item 597424013.

Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy

KJ Low, K Stals, R Caswell, M Wakeling, J Clayton-Smith, A Donaldson, N Foulds, A Norman, M Splitt, K Urankar, K Vijayakumar, A Majumdar, DDD Study, S Ellard, SF Smithson

Eur J Hum Genet. 2018 Jun; 26(6): 796–807. Published online 2018 Mar 6. doi: 10.1038/s41431-018-0110-x

PMCID:: PMC5974240

Abstract Article PDF–2.2M

Select item 570387814.

The STUbL RNF4 regulates protein group SUMOylation by targeting the SUMO conjugation machinery

Ramesh Kumar, Román González-Prieto, Zhenyu Xiao, Matty Verlaan-de Vries, Alfred C. O. Vertegaal

Nat Commun. 2017; 8: 1809. Published online 2017 Nov 27. doi: 10.1038/s41467-017-01900-x

PMCID:: PMC5703878

Abstract Article PDF–3.7M

Select item 556991115.

Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy

Shenela Lakhani, Ryan Doan, Mariam Almureikhi, Jennifer N. Partlow, Muna Al Saffar, Mahmoud F. Elsaid, Nada Alaaraj, A. James Barkovich, Christopher A. Walsh, Tawfeg Ben-Omran

Eur J Med Genet. Author manuscript; available in PMC 2018 May 1.

Published in final edited form as: Eur J Med Genet. 2017 May; 60(5): 245–249. Published online 2017 Feb 27. doi: 10.1016/j.ejmg.2017.02.006

PMCID:: PMC5569911

Abstract Article PDF–443K

Select item 553161116.

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 537173017.

Systematic protein–protein interaction mapping for clinically relevant human GPCRs

Kate Sokolina, Saranya Kittanakom, Jamie Snider, Max Kotlyar, Pascal Maurice, Jorge Gandía, Abla Benleulmi‐Chaachoua, Kenjiro Tadagaki, Atsuro Oishi, Victoria Wong, Ramy H Malty, Viktor Deineko, Hiroyuki Aoki, Shahreen Amin, Zhong Yao, Xavier Morató, David Otasek, Hiroyuki Kobayashi, Javier Menendez, Daniel Auerbach, Stephane Angers, Natasa Pržulj, Michel Bouvier, Mohan Babu, Francisco Ciruela, Ralf Jockers, Igor Jurisica, Igor Stagljar

Mol Syst Biol. 2017 Mar; 13(3): 918. Published online 2017 Mar 15. doi: 10.15252/msb.20167430

PMCID:: PMC5371730

Abstract Article PDF–4.1M

Select item 536387318.

CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis

Holger Hengel, Alex Magee, Muhammad Mahanjah, Jean-Michel Vallat, Robert Ouvrier, Mohammad Abu-Rashid, Jamal Mahamid, Rebecca Schüle, Martin Schulze, Ingeborg Krägeloh-Mann, Peter Bauer, Stephan Züchner, Rajech Sharkia, Ludger Schöls

Neurol Genet. 2017 Apr; 3(2): e144. Published online 2017 Mar 22. doi: 10.1212/NXG.0000000000000144

PMCID:: PMC5363873

Abstract Article PDF–856K

Select item 515977519.

Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy

Mathilde Nizon, Benjamin Cogne, Jean-Michel Vallat, Madeleine Joubert, Jean-Michel Liet, Laure Simon, Marie Vincent, Sébastien Küry, Pierre Boisseau, Sébastien Schmitt, Sandra Mercier, Claire Bénéteau, Catherine Larrose, Marianne Coste, Xénia Latypova, Yann Péréon, Jean-Marie Mussini, Stéphane Bézieau, Bertrand Isidor

Eur J Hum Genet. 2017 Jan; 25(1): 150–152. Published online 2016 Oct 26. doi: 10.1038/ejhg.2016.142

PMCID:: PMC5159775

Abstract Article PDF–898K

Select item 461721120.

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

PMCID:: PMC4617211

Abstract Article PDF–2.2M

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