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Select item 99234031.

Expanding the phenotypic spectrum of ARCN1-related syndrome

Alyssa L. Ritter, Jessica Gold, Hiroshi Hayashi, Amanda M. Ackermann, Stephanie Hanke, Cara Skraban, Sanmati Cuddapah, Elizabeth Bhoj, Dong Li, Yukiko Kuroda, Jessica Wen, Ryojun Takeda, Audrey Bibb, Salima El Chehadeh, Amélie Piton, Jeanine Ohl, Mary K. Kukolich, Keisuke Nagasaki, Kohji Kato, Tomoo Ogi, Tricia Bhatti, Pierre Russo, Bryan Krock, Jill R. Murrell, Jennifer A. Sullivan, Vandana Shashi, Nicholas Stong, Hakon Hakonarson, Kentaro Sawano, Erin Torti, Rebecca Willaert, Yue Si, William Ross Wilcox, Katrine Verena Wirgenes, Kristian Thomassen, Katherine Carlotti, Angelika Erwin, Joanna Lazier, Thorsten Marquardt, Miao He, Andrew C. Edmondson, Kosuke Izumi

Genet Med. Author manuscript; available in PMC 2023 Feb 13.

Published in final edited form as: Genet Med. 2022 Jun; 24(6): 1227–1237. Published online 2022 Mar 14. doi: 10.1016/j.gim.2022.02.005

PMCID:: PMC9923403

Article PDF–658K

Select item 77844872.

Novel de novo ARCN1 intronic variant causes rhizomelic short stature with microretrognathia and developmental delay

Timothy Tidwell, Malia Deshotel, Janice Palumbos, Chris Miller, Pinar Bayrak-Toydemir, John C. Carey

Cold Spring Harb Mol Case Stud. 2020 Dec; 6(6): a005728. doi: 10.1101/mcs.a005728

PMCID:: PMC7784487

Article PDF–2.6M

Select item 49740843.

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

Kosuke Izumi, Maggie Brett, Eriko Nishi, Séverine Drunat, Ee-Shien Tan, Katsunori Fujiki, Sophie Lebon, Breana Cham, Koji Masuda, Michiko Arakawa, Adeline Jacquinet, Yusuke Yamazumi, Shu-Ting Chen, Alain Verloes, Yuki Okada, Yuki Katou, Tomohiko Nakamura, Tetsu Akiyama, Pierre Gressens, Roger Foo, Sandrine Passemard, Ene-Choo Tan, Vincent El Ghouzzi, Katsuhiko Shirahige

Am J Hum Genet. 2016 Aug 4; 99(2): 451–459. Published online 2016 Jul 28. doi: 10.1016/j.ajhg.2016.06.011

PMCID:: PMC4974084

Article PDF–1.1M

Select item 33889334.

Crystallization and preliminary X-ray analysis of the C-terminal domain of δ-COP, a medium-sized subunit of the COPI complex involved in membrane trafficking

Kai Deng, Feng Gao, Peng Zheng, Weimin Gong, Zhe Sun

Acta Crystallogr Sect F Struct Biol Cryst Commun. 2012 Jul 1; 68(Pt 7): 829–831. Published online 2012 Jun 28. doi: 10.1107/S1744309112022798

PMCID:: PMC3388933

Article PDF–431K

Select item 35341085.

Fine Mapping of a Region of Chromosome 11q23.3 Reveals Independent Locus Associated with Risk of Glioma

Hongyan Chen, Bing Sun, Yingjie Zhao, Xiao Song, Weiwei Fan, Keke Zhou, Liangfu Zhou, Ying Mao, Daru Lu

PLoS One. 2012; 7(12): e52864. Published online 2012 Dec 31. doi: 10.1371/journal.pone.0052864

PMCID:: PMC3534108

Article PDF–338K

Select item 192766.

Reversible dissociation of coatomer: Functional characterization of a β/δ-coat protein subcomplex

Jochen Pavel, Cordula Harter, Felix T. Wieland

Proc Natl Acad Sci U S A. 1998 Mar 3; 95(5): 2140–2145. doi: 10.1073/pnas.95.5.2140

PMCID:: PMC19276

Article PDF–315K

Select item 216957.

A single binding site for dilysine retrieval motifs and p23 within the γ subunit of coatomer

Cordula Harter, Felix T. Wieland

Proc Natl Acad Sci U S A. 1998 Sep 29; 95(20): 11649–11654. doi: 10.1073/pnas.95.20.11649

PMCID:: PMC21695

Article PDF–239K

Select item 99253178.

Dynamic SUMOylation of MORC2 orchestrates chromatin remodelling and DNA repair in response to DNA damage and drives chemoresistance in breast cancer

Fang-Lin Zhang, Shao-Ying Yang, Li Liao, Tai-Mei Zhang, Yin-Ling Zhang, Shu-Yuan Hu, Ling Deng, Min-Ying Huang, Lisa Andriani, Xiao-Yan Ma, Zhi-Min Shao, Da-Qiang Li

Theranostics. 2023; 13(3): 973–990. Published online 2023 Jan 22. doi: 10.7150/thno.79688

PMCID:: PMC9925317

Article PDF–6.7M

Select item 63286139.

GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation

Tomasz M. Witkos, Wing Lee Chan, Merja Joensuu, Manuel Rhiel, Ed Pallister, Jane Thomas-Oates, A. Paul Mould, Alex A. Mironov, Christophe Biot, Yann Guerardel, Willy Morelle, Daniel Ungar, Felix T. Wieland, Eija Jokitalo, May Tassabehji, Uwe Kornak, Martin Lowe

Nat Commun. 2019; 10: 127. Published online 2019 Jan 10. doi: 10.1038/s41467-018-08044-6

PMCID:: PMC6328613

Article PDF–6.3M

Select item 12996110.

GS15 Forms a SNARE Complex with Syntaxin 5, GS28, and Ykt6 and Is Implicated in Traffic in the Early Cisternae of the Golgi Apparatus

Yue Xu, Sally Martin, David E. James, Wanjin Hong

Mol Biol Cell. 2002 Oct; 13(10): 3493–3507. doi: 10.1091/mbc.E02-01-0004

PMCID:: PMC129961

Article PDF–1.9M

Select item 32144111.

Novel Isotypic γ/ζ Subunits Reveal Three Coatomer Complexes in Mammals

Dominik Wegmann, Pablo Hess, Carola Baier, Felix T. Wieland, Constanze Reinhard

Mol Cell Biol. 2004 Feb; 24(3): 1070–1080. doi: 10.1128/MCB.24.3.1070-1080.2004

PMCID:: PMC321441

Article PDF–509K

Select item 212102812.

Architecture of coatomer: molecular characterization of delta-COP and protein interactions within the complex

J Cell Biol. 1996 Oct 1; 135(1): 53–61. doi: 10.1083/jcb.135.1.53

PMCID:: PMC2121028

Summary PDF–1.6M

Select item 30661613.

COP I domains required for coatomer integrity, and novel interactions with ARF and ARF-GAP

Anne Eugster, Gabriella Frigerio, Martin Dale, Rainer Duden

EMBO J. 2000 Aug 1; 19(15): 3905–3917. doi: 10.1093/emboj/19.15.3905

PMCID:: PMC306616

Article PDF–954K

Select item 509542514.

Identification and Characterization of MCM3 as a Kelch-like ECH-associated Protein 1 (KEAP1) Substrate

Kathleen M. Mulvaney, Jacob P. Matson, Priscila F. Siesser, Tigist Y. Tamir, Dennis Goldfarb, Timothy M. Jacobs, Erica W. Cloer, Joseph S. Harrison, Cyrus Vaziri, Jeanette G. Cook, Michael B. Major

J Biol Chem. 2016 Nov 4; 291(45): 23719–23733. Published online 2016 Sep 12. doi: 10.1074/jbc.M116.729418

PMCID:: PMC5095425

Article PDF–2.4M

Select item 842126715.

GOLPH3 and GOLPH3L are broad-spectrum COPI adaptors for sorting into intra-Golgi transport vesicles

Lawrence G. Welch, Sew-Yeu Peak-Chew, Farida Begum, Tim J. Stevens, Sean Munro

J Cell Biol. 2021 Oct 4; 220(10): e202106115. Published online 2021 Sep 2. doi: 10.1083/jcb.202106115

PMCID:: PMC8421267

Article PDF–5.4M

Select item 978884516.

A new intracellular targeting motif in the cytoplasmic tail of the spike protein may act as a target to inhibit SARS-CoV-2 assembly

Longbo Hu, Yongjie Tang, Lingling Mei, Mengdi Liang, Jinxian Huang, Xufei Wang, Liping Wu, Jiajing Jiang, Leyi Li, Fei Long, Jing Xiao, Long Tan, Shaohua Lu, Tao Peng

Antiviral Res. 2023 Jan; 209: 105509. Published online 2022 Dec 24. doi: 10.1016/j.antiviral.2022.105509