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Select item 114250861.

Clinical Features and Novel Pathogenic Variants of Chinese Patients With McLeod Syndrome and Chorea‐Acanthocytosis

Hao Yu, Ling Li, Xiaoyan Li, Haipeng Liu

Mol Genet Genomic Med. 2024 Sep; 12(9): e70015. Published online 2024 Sep 26. doi: 10.1002/mgg3.70015

PMCID:: PMC11425086

Article PDF–5.6M

Select item 108436842.

Multisite phosphorylation dictates selective E2-E3 pairing as revealed by Ubc8/UBE2H-GID/CTLH assemblies

Jakub Chrustowicz, Dawafuti Sherpa, Jerry Li, Christine R. Langlois, Eleftheria C. Papadopoulou, D. Tung Vu, Laura A. Hehl, Özge Karayel, Viola Beier, Susanne von Gronau, Judith Müller, J. Rajan Prabu, Matthias Mann, Gary Kleiger, Arno F. Alpi, Brenda A. Schulman

Mol Cell. Author manuscript; available in PMC 2025 Jan 18.

Published in final edited form as: Mol Cell. 2024 Jan 18; 84(2): 293–308.e14. Published online 2023 Dec 18. doi: 10.1016/j.molcel.2023.11.027

PMCID:: PMC10843684

Article PDF–3.1M

Select item 108413933.

An autopsy series of seven cases of VPS13A disease (chorea-acanthocytosis)

Ricky M. Ditzel, Jr., Ruth H. Walker, Melissa J. Nirenberg, Amber M. Tetlow, Kurt Farrell, Kourtni J. Lind-Watson, Emma L. Thorn, Diana K. Dangoor, Ronald Gordon, Claudia De Sanctis, Brandon Barton, Barbara I. Karp, Alana Kirby, Debra J. Lett, Karin Mente, David K. Simon, Antonio Velayos-Baeza, Gabriel Miltenberger-Miltenyi, Jack Humphrey, John F. Crary

Mov Disord. Author manuscript; available in PMC 2024 Dec 1.

Published in final edited form as: Mov Disord. 2023 Dec; 38(12): 2163–2172. Published online 2023 Sep 5. doi: 10.1002/mds.29589

PMCID:: PMC10841393

Article PDF–1.5M

Select item 107649584.

TRIM28-mediated nucleocapsid protein SUMOylation enhances SARS-CoV-2 virulence

Jiang Ren, Shuai Wang, Zhi Zong, Ting Pan, Sijia Liu, Wei Mao, Huizhe Huang, Xiaohua Yan, Bing Yang, Xin He, Fangfang Zhou, Long Zhang

Nat Commun. 2024; 15: 244. Published online 2024 Jan 4. doi: 10.1038/s41467-023-44502-6

PMCID:: PMC10764958

Article PDF–4.4M

Select item 106415245.

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

Article PDF–3.8M

Select item 106277866.

ESYT1 tethers the ER to mitochondria and is required for mitochondrial lipid and calcium homeostasis

Alexandre Janer, Jordan L Morris, Michiel Krols, Hana Antonicka, Mari J Aaltonen, Zhen-Yuan Lin, Hanish Anand, Anne-Claude Gingras, Julien Prudent, Eric A Shoubridge

Life Sci Alliance. 2024 Jan; 7(1): e202302335. Published online 2023 Nov 6. doi: 10.26508/lsa.202302335

PMCID:: PMC10627786

Article PDF–5.2M

Select item 105176577.

Chorein sensitive microtubule organization in tumor cells

Saad Alkahtani, Abdullah A. Alkahtane, Christos Stournaras, Saud Alarifi

PeerJ. 2023; 11: e16074. Published online 2023 Sep 20. doi: 10.7717/peerj.16074

PMCID:: PMC10517657

Article PDF–488K

Select item 102374228.

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

Article PDF–23M

Select item 102271199.

Exome sequencing of choreoacanthocytosis reveals novel mutations in VPS13A and co-mutation in modifier gene(s)

Sima Chaudhari, Akshay Pramod Ware, Dushyanth Babu Jasti, Sankar Prasad Gorthi, Lavanya Prakash Acharya, Manoj Bhat, Sandeep Mallya, Kapaettu Satyamoorthy

Mol Genet Genomics. 2023; 298(4): 965–976. Published online 2023 May 20. doi: 10.1007/s00438-023-02032-2

PMCID:: PMC10227119

Article PDF–5.2M

Select item 1015161510.

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

Article PDF–2.9M

Select item 1005343911.

The association of lipid transfer protein VPS13A with endosomes is mediated by sorting nexin SNX5

Alba Tornero-Écija, Antonia Zapata-del-Baño, Laura Antón-Esteban, Olivier Vincent, Ricardo Escalante

Life Sci Alliance. 2023 Jun; 6(6): e202201852. Published online 2023 Mar 28. doi: 10.26508/lsa.202201852

PMCID:: PMC10053439

Article PDF–2.4M

Select item 995018312.

CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment

Daphne J. Smits, Jordy Dekker, Rachel Schot, Brahim Tabarki, Amal Alhashem, Jeroen A. A. Demmers, Dick H. W. Dekkers, Antonio Romito, Peter J. van der Spek, Tjakko J. van Ham, Aida M. Bertoli-Avella, Grazia M. S. Mancini

Hum Genet. 2023; 142(3): 379–397. Published online 2022 Dec 20. doi: 10.1007/s00439-022-02511-3

PMCID:: PMC9950183

Article PDF–2.4M

Select item 952364513.

SARS-CoV-2 Nsp6 damages Drosophila heart and mouse cardiomyocytes through MGA/MAX complex-mediated increased glycolysis

Jun-yi Zhu, Guanglei Wang, Xiaohu Huang, Hangnoh Lee, Jin-Gu Lee, Penghua Yang, Joyce van de Leemput, Weiliang Huang, Maureen A. Kane, Peixin Yang, Zhe Han

Commun Biol. 2022; 5: 1039. Published online 2022 Sep 30. doi: 10.1038/s42003-022-03986-6

PMCID:: PMC9523645

Article PDF–3.9M

Select item 948234614.

Interaction between VPS13A and the XK scramblase is important for VPS13A function in humans

Jae-Sook Park, Yiying Hu, Nancy M. Hollingsworth, Gabriel Miltenberger-Miltenyi, Aaron M. Neiman

J Cell Sci. 2022 Sep 1; 135(17): jcs260227. Published online 2022 Sep 8. doi: 10.1242/jcs.260227

PMCID:: PMC9482346

Article

Select item 943638115.

A partnership between the lipid scramblase XK and the lipid transfer protein VPS13A at the plasma membrane

Andrés Guillén-Samander, Yumei Wu, S. Sebastian Pineda, Francisco J. García, Julia N. Eisen, Marianna Leonzino, Berrak Ugur, Manolis Kellis, Myriam Heiman, Pietro De Camilli

Proc Natl Acad Sci U S A. 2022 Aug 30; 119(35): e2205425119. Published online 2022 Aug 22. doi: 10.1073/pnas.2205425119

PMCID:: PMC9436381

Article PDF–2.9M

Select item 943393816.

Defining the proximal interaction networks of Arf GTPases reveals a mechanism for the regulation of PLD1 and PI4KB

Fu‐Long Li, Zhengming Wu, Yong‐Qi Gao, Forrest Z Bowling, J Matthew Franklin, Chongze Hu, Raymond T Suhandynata, Michael A Frohman, Michael V Airola, Huilin Zhou, Kun‐Liang Guan

EMBO J. 2022 Sep; 41(17): e110698. Published online 2022 Jul 17. doi: 10.15252/embj.2022110698

PMCID:: PMC9433938

Article PDF–9.3M

Select item 911973617.

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

Article PDF–3.3M

Select item 903755418.

C5orf51 is a component of the MON1-CCZ1 complex and controls RAB7A localization and stability during mitophagy

Bing-Ru Yan, Taoyingnan Li, Etienne Coyaud, Estelle M. N. Laurent, Jonathan St-Germain, Yuhuan Zhou, Peter K. Kim, Brian Raught, John H. Brumell

Autophagy. 2022; 18(4): 829–840. Published online 2021 Aug 25. doi: 10.1080/15548627.2021.1960116

PMCID:: PMC9037554

Article PDF–4.1M

Select item 897825919.

Structural and biochemical insights into lipid transport by VPS13 proteins

Jyoti Adlakha, Zhouping Hong, PeiQi Li, Karin M. Reinisch

J Cell Biol. 2022 May 2; 221(5): e202202030. Published online 2022 Mar 31. doi: 10.1083/jcb.202202030

PMCID:: PMC8978259

Article PDF–3.5M

Select item 866412920.

Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context

Marcel Morgenstern, Christian D. Peikert, Philipp Lübbert, Ida Suppanz, Cinzia Klemm, Oliver Alka, Conny Steiert, Nataliia Naumenko, Alexander Schendzielorz, Laura Melchionda, Wignand W.D. Mühlhäuser, Bettina Knapp, Jakob D. Busch, Sebastian B. Stiller, Stefan Dannenmaier, Caroline Lindau, Mariya Licheva, Christopher Eickhorst, Riccardo Galbusera, Ralf M. Zerbes, Michael T. Ryan, Claudine Kraft, Vera Kozjak-Pavlovic, Friedel Drepper, Sven Dennerlein, Silke Oeljeklaus, Nikolaus Pfanner, Nils Wiedemann, Bettina Warscheid

Cell Metab. 2021 Dec 7; 33(12): 2464–2483.e18. doi: 10.1016/j.cmet.2021.11.001

PMCID:: PMC8664129

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