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    Items: 1 to 20 of 126

    1.
    Antagonistic roles of canonical and alternative-RPA in disease-associated tandem CAG repeat instability
    Terence Gall-Duncan, Jennifer Luo, Carla-Marie Jurkovic, Laura A. Fischer, Kyota Fujita, Amit L. Deshmukh, Rachel J. Harding, Stephanie Tran, Mustafa Mehkary, Vanessa Li, David E. Leib, Ran Chen, Hikari Tanaka, Amanda G. Mason, Dominique Lévesque, Mahreen Khan, Mortezaali Razzaghi, Tanya Prasolava, Stella Lanni, Nozomu Sato, Marie-Christine Caron, Gagan B. Panigrahi, Peixiang Wang, Rachel Lau, Arturo López Castel, Jean-Yves Masson, Lynette Tippett, Clinton Turner, Maria Spies, Albert R. La Spada, Eric I. Campos, Maurice A. Curtis, François-Michel Boisvert, Richard L.M. Faull, Beverly L. Davidson, Masayuki Nakamori, Hitoshi Okazawa, Marc S. Wold, Christopher E. Pearson
    Cell. Author manuscript; available in PMC 2024 Oct 26.
    Published in final edited form as: Cell. 2023 Oct 26; 186(22): 4898–4919.e25. Published online 2023 Oct 11. doi: 10.1016/j.cell.2023.09.008
    PMCID:
    PMC11209935
    ArticlePDF–3.0M
    2.
    Identification of a novel nonsense mutation in α-galactosidase A that causes Fabry disease in a Chinese family
    Yushi Peng, Meize Pan, Yuchen Wang, Zongrui Shen, Jian Xu, Fu Xiong, Hongbo Xiao, Yun Miao
    Ren Fail. 2024; 46(2): 2362391. Published online 2024 Jun 7. doi: 10.1080/0886022X.2024.2362391
    PMCID:
    PMC11164125
    ArticlePDF–1.0M
    3.
    K48- and K63-linked ubiquitin chain interactome reveals branch- and length-specific ubiquitin interactors
    Anita Waltho, Oliver Popp, Christopher Lenz, Lukas Pluska, Mahil Lambert, Volker Dötsch, Philipp Mertins, Thomas Sommer
    Life Sci Alliance. 2024 Aug; 7(8): e202402740. Published online 2024 May 21. doi: 10.26508/lsa.202402740
    PMCID:
    PMC11109483
    ArticlePDF–2.9M
    4.
    GLA Mutations Suppress Autophagy and Stimulate Lysosome Generation in Fabry Disease
    Ping Li, Yuqian Xi, Yanping Zhang, Abdus Samad, Wenli Lan, Ya Wu, Jiayu Zhao, Guangxin Chen, Changxin Wu, Qiuhong Xiong
    Cells. 2024 Mar; 13(5): 437. Published online 2024 Mar 1. doi: 10.3390/cells13050437
    PMCID:
    PMC10930447
    ArticlePDF–8.6M
    5.
    Enzymatic properties and clinical associations of serum alpha‐galactosidase A in Parkinson's disease
    Yasuaki Mizutani, Kazuki Nawashiro, Reiko Ohdake, Harutsugu Tatebe, Sayuri Shima, Akihiro Ueda, Junichiro Yoshimoto, Mizuki Ito, Takahiko Tokuda, Tatsuro Mutoh, Hirohisa Watanabe
    Ann Clin Transl Neurol. 2023 Sep; 10(9): 1662–1672. Published online 2023 Jul 26. doi: 10.1002/acn3.51856
    PMCID:
    PMC10502655
    ArticlePDF–1.5M
    6.
    All reported non-canonical splice site variants in GLA cause aberrant splicing
    Eri Okada, Tomoko Horinouchi, Tomohiko Yamamura, Yuya Aoto, Ryota Suzuki, Yuta Ichikawa, Yu Tanaka, Chika Masuda, Hideaki Kitakado, Atsushi Kondo, Nana Sakakibara, Shinya Ishiko, China Nagano, Shingo Ishimori, Joichi Usui, Kunihiro Yamagata, Masafumi Matsuo, Kandai Nozu
    Clin Exp Nephrol. 2023; 27(9): 737–746. Published online 2023 May 31. doi: 10.1007/s10157-023-02361-x
    PMCID:
    PMC10432374
    ArticlePDF–818K
    7.
    In Vitro Reconstitution and Analysis of SARS-CoV-2/Host Protein–Protein Interactions
    Shayli Varasteh Moradi, Yue Wu, Patricia Walden, Zhenling Cui, Wayne A. Johnston, Dmitri Petrov, Kirill Alexandrov
    ACS Omega. 2023 Jul 18; 8(28): 25009–25019. Published online 2023 Jul 6. doi: 10.1021/acsomega.3c01625
    PMCID:
    PMC10357528
    ArticlePDF–4.1M
    8.
    Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families
    Vittoria Cianci, Angelo Pascarella, Lucia Manzo, Sara Gasparini, Oreste Marsico, Anna Mammì, Carmelo Massimiliano Rao, Claudio Franzutti, Umberto Aguglia, Edoardo Ferlazzo
    Metab Brain Dis. 2023; 38(6): 1905–1912. Published online 2023 Apr 25. doi: 10.1007/s11011-023-01216-4
    PMCID:
    PMC10348951
    ArticlePDF–1.0M
    9.
    Late-onset and classic phenotypes of Fabry disease in males with the GLA-Thr410Ala mutation
    Kati Valtola, Marja Hedman, Ilkka Kantola, Susanne Walls, Seppo Helisalmi, Maleeha Maria, Joose Raivo, Christiane Auray-Blais, Johanna Kuusisto
    Open Heart. 2023; 10(1): e002251. Published online 2023 Mar 16. doi: 10.1136/openhrt-2023-002251
    PMCID:
    PMC10030781
    ArticlePDF–823K
    10.
    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
    ArticlePDF–2.4M
    11.
    SIRT5 is a proviral factor that interacts with SARS-CoV-2 Nsp14 protein
    Marius Walter, Irene P. Chen, Albert Vallejo-Gracia, Ik-Jung Kim, Olga Bielska, Victor L. Lam, Jennifer M. Hayashi, Andrew Cruz, Samah Shah, Frank W. Soveg, John D. Gross, Nevan J. Krogan, Keith R. Jerome, Birgit Schilling, Melanie Ott, Eric Verdin
    PLoS Pathog. 2022 Sep; 18(9): e1010811. Published online 2022 Sep 12. doi: 10.1371/journal.ppat.1010811
    PMCID:
    PMC9499238
    ArticlePDF–3.7M
    12.
    ARHGAP24 represses β-catenin transactivation-induced invasiveness in hepatocellular carcinoma mainly by acting as a GTPase-independent scaffold
    Wenjing Yang, Beili Wang, Qian Yu, Te Liu, Tong Li, Tongtong Tian, Anli Jin, Lin Ding, Wei Chen, Hao Wang, Jingrong Xian, Baishen Pan, Jian Zhou, Jia Fan, Xinrong Yang, Wei Guo
    Theranostics. 2022; 12(14): 6189–6206. Published online 2022 Aug 21. doi: 10.7150/thno.72134
    PMCID:
    PMC9475462
    ArticlePDF–4.6M
    13.
    p.R220L Is a Likely Pathogenic Novel GLA Gene Mutation Responsible for Fabry Disease
    Hasan Ali Barman, Adem Atıcı, Serhan Özyıldırım, Serdar Ceylaner, Memduh Dursun, Sait Mesut Doğan
    Anatol J Cardiol. 2022 May; 26(5): 411–413. Published online 2022 May 1. doi: 10.5152/AnatolJCardiol.2021.393
    PMCID:
    PMC9366415
    ArticlePDF–2.1M
    14.
    Low Frequency of Fabry disease in patients with common heart disease
    Raphael Schiffmann, Caren Swift, Nathan McNeill, Elfrida R. Benjamin, Jeffrey P. Castelli, Jay Barth, Lawrence Sweetman, Xuan Wang, Xiaoyang Wu
    Genet Med. Author manuscript; available in PMC 2022 Jul 21.
    Published in final edited form as: Genet Med. 2018 Jul; 20(7): 754–759. Published online 2017 Oct 26. doi: 10.1038/gim.2017.175
    PMCID:
    PMC9302444
    ArticlePDF–579K
    15.
    Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery
    Pierre C. Havugimana, Raghuveera Kumar Goel, Sadhna Phanse, Ahmed Youssef, Dzmitry Padhorny, Sergei Kotelnikov, Dima Kozakov, Andrew Emili
    Nat Commun. 2022; 13: 4043. Published online 2022 Jul 13. doi: 10.1038/s41467-022-31809-z
    PMCID:
    PMC9279285
    ArticlePDF–2.5M
    16.
    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
    ArticlePDF–6.0M
    17.
    Physical and functional interactome atlas of human receptor tyrosine kinases
    Kari Salokas, Xiaonan Liu, Tiina Öhman, Iftekhar Chowdhury, Lisa Gawriyski, Salla Keskitalo, Markku Varjosalo
    EMBO Rep. 2022 Jun; 23(6): e54041. Published online 2022 Apr 5. doi: 10.15252/embr.202154041
    PMCID:
    PMC9171411
    ArticlePDF–1.9M
    18.
    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
    ArticlePDF–3.3M
    19.
    Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling
    Ilektra Kouranti, Waed Abdel Khalek, Stephani Mazurkiewicz, Irmine Loisel-Ferreira, Alexis M. Gautreau, Lionel Pintard, Xavier Jeunemaitre, Eric Clauser
    Int J Mol Sci. 2022 May; 23(9): 5151. Published online 2022 May 5. doi: 10.3390/ijms23095151
    PMCID:
    PMC9105235
    ArticlePDF–5.8M
    20.
    Gene variants of unknown significance in Fabry disease: Clinical characteristics of c.376A>G (p.Ser126Gly)
    Kolja Lau, Nurcan Üçeyler, Tereza Cairns, Lora Lorenz, Claudia Sommer, Magnus Schindehütte, Kerstin Amann, Christoph Wanner, Peter Nordbeck
    Mol Genet Genomic Med. 2022 May; 10(5): e1912. Published online 2022 Feb 25. doi: 10.1002/mgg3.1912
    PMCID:
    PMC9034661
    ArticlePDF–1.4M

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