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Items: 1 to 20 of 28

1.
SLC37A4, gene responsible for glycogen storage disease type 1b, regulates gingival epithelial barrier function via JAM1 expression
Keita Tanigaki, Risako Matsumura, Naoko Sasaki, Yuta Kato, Tsukasa Tamamori, Shunsuke Yamaga, Eriko Nakamura, Akito Sakanaka, Masae Kuboniwa, Michiya Matsusaki, Atsuo Amano, Hiroki Takeuchi
Sci Rep. 2024; 14: 24797. Published online 2024 Oct 22. doi: 10.1038/s41598-024-75524-9
PMCID:
PMC11494063
ArticlePDF–4.4M
2.
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
3.
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
ArticlePDF–3.1M
4.
Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review
Zhuolin Wang, Ruiqin Zhao, Xiaoyun Jia, Xiaolei Li, Li Ma, Haiyan Fu
J Int Med Res. 2023 Dec; 51(12): 03000605231216633. Published online 2023 Dec 12. doi: 10.1177/03000605231216633
PMCID:
PMC10718061
ArticlePDF–613K
5.
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
6.
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
7.
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction
Bobby G. Ng, Paulina Sosicka, François Fenaille, Annie Harroche, Sandrine Vuillaumier-Barrot, Mindy Porterfield, Zhi-Jie Xia, Shannon Wagner, Michael J. Bamshad, Marie-Christine Vergnes-Boiteux, Sophie Cholet, Stephen Dalton, Anne Dell, Thierry Dupré, Mathieu Fiore, Stuart M. Haslam, Yohann Huguenin, Tadahiro Kumagai, Michael Kulik, Katherine McGoogan, Caroline Michot, Deborah A. Nickerson, Tiffany Pascreau, Delphine Borgel, Kimiyo Raymond, Deepti Warad, University of Washington Center for Mendelian Genomics (UW-CMG), Heather Flanagan-Steet, Richard Steet, Michael Tiemeyer, Nathalie Seta, Arnaud Bruneel, Hudson H. Freeze
Am J Hum Genet. 2021 Jun 3; 108(6): 1040–1052. Published online 2021 May 7. doi: 10.1016/j.ajhg.2021.04.013
PMCID:
PMC8206404
ArticlePDF–2.2M
8.
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
ArticlePDF–2.2M
9.
A novel SLC37A4 missense mutation in GSD‐Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis
Qianyun Xu, Haiyan Tang, Liping Duan, Xiaoxia Zuo, Xiaoliu Shi, Yisha Li, Hongjun Zhao, Huali Zhang
Mol Genet Genomic Med. 2021 Jan; 9(1): e1568. Published online 2020 Dec 5. doi: 10.1002/mgg3.1568
PMCID:
PMC7963412
ArticlePDF–562K
10.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
ArticlePDF–5.4M
11.
Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b)
Maryam Eghbali, Maryam Abiri, Saeed Talebi, Zahra Noroozi, Marjan Shakiba, Parastoo Rostami, Hosein Alimadadi, Mehri Najafi, Fatemeh Yazarlou, Ali Rabbani, Mohammad Hossein Modarressi
Orphanet J Rare Dis. 2020; 15: 35. Published online 2020 Jan 31. doi: 10.1186/s13023-019-1266-3
PMCID:
PMC6995048
ArticlePDF–1.5M
12.
PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling
Adnan Shami Shah, Alex G. Batrouni, Dongsung Kim, Amith Punyala, Wendy Cao, Chun Han, Michael L. Goldberg, Marcus B. Smolka, Jeremy M. Baskin
Cell Rep. Author manuscript; available in PMC 2019 Jun 26.
Published in final edited form as: Cell Rep. 2019 May 14; 27(7): 2157–2170.e8. doi: 10.1016/j.celrep.2019.04.060
PMCID:
PMC6594551
ArticlePDF–1.4M
13.
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
Correction in:
Mol Syst Biol. 2025 Jan 6
PMCID:
PMC5371730
ArticlePDF–4.1M
14.
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib
Rihwa Choi, Hyung-Doo Park, Jung Min Ko, Jeongho Lee, Dong Hwan Lee, Suk Jin Hong, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim, Junghan Song, Yon Ho Choe
Ann Lab Med. 2017 May; 37(3): 261–266. Published online 2017 Feb 17. doi: 10.3343/alm.2017.37.3.261
PMCID:
PMC5339099
ArticlePDF–238K
15.
A dynamic protein interaction landscape of the human centrosome-cilium interface
Gagan D. Gupta, Étienne Coyaud, João Gonçalves, Bahareh A. Mojarad, Yi Liu, Qianzhu Wu, Ladan Gheiratmand, David Comartin, Johnny M. Tkach, Sally W.T. Cheung, Mikhail Bashkurov, Monica Hasegan, James D. Knight, Zhen-Yuan Lin, Markus Schueler, Friedhelm Hildebrandt, Jason Moffat, Anne-Claude Gingras, Brian Raught, Laurence Pelletier
Cell. Author manuscript; available in PMC 2016 Dec 3.
Published in final edited form as: Cell. 2015 Dec 3; 163(6): 1484–1499. doi: 10.1016/j.cell.2015.10.065
PMCID:
PMC5089374
ArticlePDF–1.5M
16.
hORFeome v3.1: A resource of human open reading frames representing over 10,000 human genes
Philippe Lamesch, Ning Li, Stuart Milstein, Changyu Fan, Tong Hao, Gabor Szabo, Zhenjun Hu, Kavitha Venkatesan, Graeme Bethel, Paul Martin, Jane Rogers, Stephanie Lawlor, Stuart McLaren, Amélie Dricot, Heather Borick, Michael E. Cusick, Jean Vandenhaute, Ian Dunham, David E. Hill, Marc Vidal
Genomics. 2007 Mar; 89(3): 307–315. doi: 10.1016/j.ygeno.2006.11.012
PMCID:
PMC4647941
Article
17.
Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib
Marcelo Paschoalete Carlin, Daniel Zanetti Scherrer, Adriana Maria Alves De Tommaso, Carmen Silvia Bertuzzo, Carlos Eduardo Steiner
Genet Mol Biol. 2013 Dec; 36(4): 502–506. Published online 2013 Nov 8. doi: 10.1590/S1415-47572013000400007
PMCID:
PMC3873180
ArticlePDF–749K
18.
Image-Based Genome-Wide siRNA Screen Identifies Selective Autophagy Factors
Anthony Orvedahl, Rhea Sumpter, Jr., Guanghua Xiao, Aylwin Ng, Zhongju Zou, Yi Tang, Masahiro Narimatsu, Christopher Gilpin, Qihua Sun, Michael Roth, Christian V. Forst, Jeffrey L. Wrana, Ying E. Zhang, Katherine Luby-Phelps, Ramnik Xavier, Yang Xie, Beth Levine
Nature. Author manuscript; available in PMC 2012 Jun 1.
Published in final edited form as: Nature. 2011 Dec 1; 480(7375): 113–117. doi: 10.1038/nature10546
PMCID:
PMC3229641
ArticlePDF–2.3M
19.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
ArticlePDF–1.0M
20.
SLC37A1 and SLC37A2 Are Phosphate-Linked, Glucose-6-Phosphate Antiporters
Chi-Jiunn Pan, Shih-Yin Chen, Hyun Sik Jun, Su Ru Lin, Brian C. Mansfield, Janice Y. Chou
PLoS One. 2011; 6(9): e23157. Published online 2011 Sep 20. doi: 10.1371/journal.pone.0023157
PMCID:
PMC3176764
ArticlePDF–582K

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