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Select item 111575981.

Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype

Valerie Gartner, Thomas C. Markello, Ellen Macnamara, Andrea De Biase, Audrey Thurm, Lisa Joseph, Alan Beggs, Jeremy D. Schmahmann, Gerard T. Berry, Irina Anselm, Emma Boslet, Cynthia J. Tifft, William A. Gahl, Paul R. Lee

Am J Med Genet A. Author manuscript; available in PMC 2024 Jun 7.

Published in final edited form as: Am J Med Genet A. 2018 Dec; 176(12): 2768–2776. Published online 2018 Dec 11. doi: 10.1002/ajmg.a.40628

PMCID:: PMC11157598

Abstract Article PDF–849K

Select item 106415242.

Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis

Robert S. Kiss, Jarred Chicoine, Youssef Khalil, Robert Sladek, He Chen, Alessandro Pisaturo, Cyril Martin, Jessica D. Dale, Tegan A. Brudenell, Archith Kamath, Jeffrey Kyei-Boahen, Anouar Hafiane, Girija Daliah, Célia Alecki, Tayah S. Hopes, Martin Heier, Irene A. Aligianis, Jean-Jacques Lebrun, Julie Aspden, Emanuele Paci, Anja Kerksiek, Dieter Lütjohann, Peter Clayton, Jimi C. Wills, Alex von Kriegsheim, Tommy Nilsson, Eamonn Sheridan, Mark T. Handley

J Biol Chem. 2023 Nov; 299(11): 105295. Published online 2023 Sep 28. doi: 10.1016/j.jbc.2023.105295

PMCID:: PMC10641524

Abstract Article PDF–3.8M

Select item 106209433.

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

Heba Morsy, Mehdi Benkirane, Elisa Cali, Clarissa Rocca, Kristina Zhelcheska, Valentina Cipriani, Evangelia Galanaki, Reza Maroofian, Stephanie Efthymiou, David Murphy, Mary O’Driscoll, Mohnish Suri, Siddharth Banka, Jill Clayton-Smith, Thomas Wright, Melody Redman, Jennifer A. Bassetti, Mathilde Nizon, Benjamin Cogne, Rami Abu Jamra, Tobias Bartolomaeus, Marion Heruth, Ilona Krey, Janina Gburek-Augustat, Dagmar Wieczorek, Felix Gattermann, Meriel Mcentagart, Alice Goldenberg, Lucie Guyant-Marechal, Hector Garcia-Moreno, Paola Giunti, Brigitte Chabrol, Severine Bacrot, Roger Buissonnière, Virginie Magry, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Béla Melegh, András Szabó, Katalin Sümegi, Mireille Cossée, Monica Ziff, Russell Butterfield, David Hunt, Georgina Bird-Lieberman, Michael Hanna, Michel Koenig, Michael Stankewich, Jana Vandrovcova, Henry Houlden, Genomics England Research Consortium

Genet Med. 2023 Jan; 25(1): 76–89. doi: 10.1016/j.gim.2022.09.013

PMCID:: PMC10620943

Abstract Article PDF–1.2M

Select item 106176734.

The midnolin-proteasome pathway catches proteins for ubiquitination-independent degradation

Xin Gu, Christopher Nardone, Nolan Kamitaki, Aoyue Mao, Stephen J. Elledge, Michael E. Greenberg

Science. Author manuscript; available in PMC 2023 Oct 31.

Published in final edited form as: Science. 2023 Aug 25; 381(6660): eadh5021. Published online 2023 Aug 25. doi: 10.1126/science.adh5021

PMCID:: PMC10617673

Abstract Article PDF–3.6M

Select item 102794695.

Cross-Linking Mass Spectrometry Uncovers Interactions Between High-Density Lipoproteins and the SARS-CoV-2 Spike Glycoprotein

Sean A. Burnap, Ana Maria Ortega-Prieto, Jose M. Jimenez-Guardeño, Hashim Ali, Kaloyan Takov, Matthew Fish, Manu Shankar-Hari, Mauro Giacca, Michael H. Malim, Manuel Mayr

Mol Cell Proteomics. 2023 Aug; 22(8): 100600. Published online 2023 Jun 19. doi: 10.1016/j.mcpro.2023.100600

PMCID:: PMC10279469

Abstract Article PDF–3.2M

Select item 102374226.

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 101516157.

Cross-linking mass spectrometry discovers, evaluates, and corroborates structures and protein–protein interactions in the human cell

Tara K. Bartolec, Xabier Vázquez-Campos, Alexander Norman, Clement Luong, Marcus Johnson, Richard J. Payne, Marc R. Wilkins, Joel P. Mackay, Jason K. K. Low

Proc Natl Acad Sci U S A. 2023 Apr 25; 120(17): e2219418120. Published online 2023 Apr 18. doi: 10.1073/pnas.2219418120

PMCID:: PMC10151615

Abstract Article PDF–2.9M

Select item 99868178.

METTL3 protects METTL14 from STUB1‐mediated degradation to maintain m⁶A homeostasis

Zhan‐Cheng Zeng, Qi Pan, Yu‐Meng Sun, Heng‐Jing Huang, Xiao‐Tong Chen, Tian‐Qi Chen, Bo He, Hua Ye, Shun‐Xin Zhu, Ke‐Jia Pu, Ke Fang, Wei Huang, Yue‐Qin Chen, Wen‐Tao Wang

EMBO Rep. 2023 Mar; 24(3): e55762. Published online 2023 Jan 4. doi: 10.15252/embr.202255762

PMCID:: PMC9986817

Abstract Article PDF–3.5M

Select item 99504479.

Targeting USP10 induces degradation of oncogenic ANLN in esophageal squamous cell carcinoma

Yu-Fei Cao, Lei Xie, Bei-Bei Tong, Man-Yu Chu, Wen-Qi Shi, Xiang Li, Jian-Zhong He, Shao-Hong Wang, Zhi-Yong Wu, Dan-Xia Deng, Ya-Qi Zheng, Zhi-Mao Li, Xiu-E Xu, Lian-Di Liao, Yin-Wei Cheng, Li-Yan Li, Li-Yan Xu, En-Min Li

Cell Death Differ. 2023 Feb; 30(2): 527–543. Published online 2022 Dec 16. doi: 10.1038/s41418-022-01104-x

PMCID:: PMC9950447

Abstract Article PDF–8.4M

Select item 985197310.

A comprehensive SARS-CoV-2–human protein–protein interactome reveals COVID-19 pathobiology and potential host therapeutic targets

Yadi Zhou, Yuan Liu, Shagun Gupta, Mauricio I. Paramo, Yuan Hou, Chengsheng Mao, Yuan Luo, Julius Judd, Shayne Wierbowski, Marta Bertolotti, Mriganka Nerkar, Lara Jehi, Nir Drayman, Vlad Nicolaescu, Haley Gula, Savaş Tay, Glenn Randall, Peihui Wang, John T. Lis, Cédric Feschotte, Serpil C. Erzurum, Feixiong Cheng, Haiyuan Yu

Nat Biotechnol. Author manuscript; available in PMC 2023 Jan 20.

Published in final edited form as: Nat Biotechnol. 2023 Jan; 41(1): 128–139. Published online 2022 Oct 10. doi: 10.1038/s41587-022-01474-0

PMCID:: PMC9851973

Abstract Article PDF–4.0M

Select item 983165411.

Sleeve gastrectomy improves lipid dysmetabolism by downregulating the USP20-HSPA2 axis in diet-induced obese mice

Wenjie Zhang, Bowen Shi, Shirui Li, Zenglin Liu, Songhan Li, Shuohui Dong, Yugang Cheng, Jiankang Zhu, Guangyong Zhang, Mingwei Zhong

Front Endocrinol (Lausanne) 2022; 13: 1041027. Published online 2022 Dec 27. doi: 10.3389/fendo.2022.1041027

PMCID:: PMC9831654

Abstract Article PDF–25M

Select item 979798812.

TBK1 posphorylation activates LIR-dependent degradation of the inflammation repressor TNIP1

Jianwen Zhou, Nikoline Lander Rasmussen, Hallvard Lauritz Olsvik, Vyacheslav Akimov, Zehan Hu, Gry Evjen, Stéphanie Kaeser-Pebernard, Devanarayanan Siva Sankar, Carole Roubaty, Pauline Verlhac, Nicole van de Beek, Fulvio Reggiori, Yakubu Princely Abudu, Blagoy Blagoev, Trond Lamark, Terje Johansen, Jörn Dengjel

J Cell Biol. 2023 Feb 6; 222(2): e202108144. Published online 2022 Dec 27. doi: 10.1083/jcb.202108144

PMCID:: PMC9797988

Abstract Article PDF–6.9M

Select item 977255813.

HDLBP Promotes Hepatocellular Carcinoma Proliferation and Sorafenib Resistance by Suppressing Trim71-dependent RAF1 Degradation

Jingsheng Yuan, Tao Lv, Jian Yang, Zhenru Wu, Lvnan Yan, Jiayin Yang, Yujun Shi, Li Jiang

Cell Mol Gastroenterol Hepatol. 2023; 15(2): 307–325. Published online 2022 Oct 14. doi: 10.1016/j.jcmgh.2022.10.005

PMCID:: PMC9772558

Abstract Article PDF–8.2M

Select item 976969814.

A whole genome CRISPR screen identifies AHR loss as a mechanism of resistance to a PARP7 inhibitor

Huadong Chen, Morgan E. Diolaiti, Patrick C. O’Leary, Ajda Rojc, Nevan J. Krogan, Minkyu Kim, Alan Ashworth

Mol Cancer Ther. Author manuscript; available in PMC 2023 Jan 5.

Published in final edited form as: Mol Cancer Ther. 2022 Jul 5; 21(7): 1076–1089. doi: 10.1158/1535-7163.MCT-21-0841

PMCID:: PMC9769698

Abstract Article PDF–2.7M

Select item 967769115.

OTUD4-mediated GSDME deubiquitination enhances radiosensitivity in nasopharyngeal carcinoma by inducing pyroptosis

Muping Di, Jingjing Miao, Qiuzhong Pan, Zonglong Wu, Boyu Chen, Muru Wang, Jingjing Zhao, Huageng Huang, Jiewen Bai, Qijing Wang, Yan Tang, Yongqiang Li, Jia He, Tong Xiang, Desheng Weng, Lin Wang, Jianchuan Xia, Chong Zhao

J Exp Clin Cancer Res. 2022; 41: 328. Published online 2022 Nov 21. doi: 10.1186/s13046-022-02533-9

PMCID:: PMC9677691

Abstract Article PDF–20M

Select item 956995516.

A Degradation Motif in STAU1 Defines a Novel Family of Proteins Involved in Inflammation

Yulemi Gonzalez Quesada, Luc DesGroseillers

Int J Mol Sci. 2022 Oct; 23(19): 11588. Published online 2022 Sep 30. doi: 10.3390/ijms231911588

PMCID:: PMC9569955

Abstract Article PDF–2.1M

Select item 952752017.

EGFR suppresses p53 function by promoting p53 binding to DNA-PKcs: a noncanonical regulatory axis between EGFR and wild-type p53 in glioblastoma

Jie Ding, Xiaolong Li, Sabbir Khan, Chen Zhang, Feng Gao, Shayak Sen, Amanda R Wasylishen, Yang Zhao, Guillermina Lozano, Dimpy Koul, W K Alfred Yung

Neuro Oncol. 2022 Oct; 24(10): 1712–1725. Published online 2022 Apr 26. doi: 10.1093/neuonc/noac105

PMCID:: PMC9527520

Abstract Article PDF–12M

Select item 948193318.

ALS-linked loss of Cyclin-F function affects HSP90

Alexander Siebert, Vanessa Gattringer, Jochen H Weishaupt, Christian Behrends

Life Sci Alliance. 2022 Dec; 5(12): e202101359. Published online 2022 Sep 16. doi: 10.26508/lsa.202101359

PMCID:: PMC9481933

Abstract Article PDF–3.5M

Select item 947545319.

The N⁶-methyladenosine-mediated lncRNA WEE2-AS1 promotes glioblastoma progression by stabilizing RPN2

Boyan Li, Rongrong Zhao, Wei Qiu, Ziwen Pan, Shulin Zhao, Yanhua Qi, Jiawei Qiu, Shouji Zhang, Qindong Guo, Yang Fan, Hao Xu, Ming Li, Gang Li, Hao Xue

Theranostics. 2022; 12(14): 6363–6379. Published online 2022 Aug 29. doi: 10.7150/thno.74600

PMCID:: PMC9475453

Abstract Article PDF–4.4M

Select item 944065320.

Suppression of ACE2 SUMOylation protects against SARS-CoV-2 infection through TOLLIP-mediated selective autophagy

Shouheng Jin, Xing He, Ling Ma, Zhen Zhuang, Yiliang Wang, Meng Lin, Sihui Cai, Lu Wei, Zheyu Wang, Zhiyao Zhao, Yaoxing Wu, Lin Sun, Chunwei Li, Weihong Xie, Yong Zhao, Zhou Songyang, Ke Peng, Jincun Zhao, Jun Cui

Nat Commun. 2022; 13: 5204. Published online 2022 Sep 3. doi: 10.1038/s41467-022-32957-y

PMCID:: PMC9440653

Abstract Article PDF–2.9M

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