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Items: 1 to 20 of 41

1.
Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation
Jaak Jaeken, Dirk Lefeber, Gert Matthijs
Eur J Hum Genet. 2015 Oct; 23(10): 1431. Published online 2015 Feb 4. doi: 10.1038/ejhg.2015.9
PMCID:
PMC4592101
ArticlePDF–168K
2.
Congenital Disorder of Glycosylation Type Ik (CDG-Ik): A Defect of Mannosyltransferase I
Christian Kranz, Jonas Denecke, Ludwig Lehle, Kristina Sohlbach, Stefanie Jeske, Friedhelm Meinhardt, Rainer Rossi, Sonja Gudowius, Thorsten Marquardt
Am J Hum Genet. 2004 Mar; 74(3): 545–551. Published online 2004 Feb 17. doi: 10.1086/382493
PMCID:
PMC1182267
AbstractArticlePDF–209K
3.
Association studies of WD repeat domain 3 and chitobiosyldiphosphodolichol beta-mannosyltransferase genes with schizophrenia in a Japanese population
Momoko Kobayashi, Daisuke Jitoku, Yoshimi Iwayama, Naoki Yamamoto, Tomoko Toyota, Katsuaki Suzuki, Mitsuru Kikuchi, Tasuku Hashimoto, Nobuhisa Kanahara, Akeo Kurumaji, Takeo Yoshikawa, Toru Nishikawa
PLoS One. 2018; 13(1): e0190991. Published online 2018 Jan 8. doi: 10.1371/journal.pone.0190991
PMCID:
PMC5757935
AbstractArticlePDF–2.9M
4.
ALG1-CDG: Clinical and molecular characterization of 39 unreported patients
Bobby G. Ng, Sergey A. Shiryaev, Daisy Rymen, Erik A. Eklund, Kimiyo Raymond, Martin Kircher, Jose E. Abdenur, Fusun Alehan, Alina T. Midro, Michael J. Bamshad, Rita Barone, Gerard T. Berry, Jane E. Brumbaugh, Kati J. Buckingham, Katie Clarkson, F. Sessions Cole, Shawn O'Connor, Gregory M. Cooper, Rudy Van Coster, Laurie A. Demmer, Luisa Diogo, Alexander J. Fay, Can Ficicioglu, Agata Fiumara, William A. Gahl, Rebecca Ganetzky, Himanshu Goel, Lyndsay A. Harshman, Miao He, Jaak Jaeken, Philip M. James, Daniel Katz, Liesbeth Keldermans, Maria Kibaek, Andrew J. Kornberg, Katherine Lachlan, Christina Lam, Joy Yaplito-Lee, Deborah A. Nickerson, Heidi L. Peters, Valerie Race, Luc Régal, Jeffrey S. Rush, S. Lane Rutledge, Jay Shendure, Erika Souche, Susan E. Sparks, Pamela Trapane, Amarilis Sanchez-Valle, Eric Vilain, Arve Vøllo, Charles J. Waechter, Raymond Y. Wang, Lynne A. Wolfe, Derek A. Wong, Tim Wood, Amy C. Yang, University of Washington Center for Mendelian Genomics, Gert Matthijs, Hudson H. Freeze
Hum Mutat. Author manuscript; available in PMC 2016 Jul 1.
Published in final edited form as: Hum Mutat. 2016 Jul; 37(7): 653–660. Published online 2016 Mar 21. doi: 10.1002/humu.22983
PMCID:
PMC4907823
AbstractArticlePDF–885K
5.
Deficiency of GDP-Man:GlcNAc2-PP-Dolichol Mannosyltransferase Causes Congenital Disorder of Glycosylation Type Ik
Markus Schwarz, Christian Thiel, Jürgen Lübbehusen, Bert Dorland, Tom de Koning, Kurt von Figura, Ludwig Lehle, Christian Körner
Am J Hum Genet. 2004 Mar; 74(3): 472–481. Published online 2004 Feb 16. doi: 10.1086/382492
PMCID:
PMC1182261
AbstractArticlePDF–249K
6.
Pharmacological suppression of B7-H4 glycosylation restores antitumor immunity in immune-cold breast cancers
Xinxin Song, Zhuan Zhou, Hongchun Li, Yifan Xue, Xinghua Lu, Ivet Bahar, Oliver Kepp, Mien-Chie Hung, Guido Kroemer, Yong Wan
Cancer Discov. Author manuscript; available in PMC 2021 Jun 1.
Published in final edited form as: Cancer Discov. 2020 Dec; 10(12): 1872–1893. Published online 2020 Sep 16. doi: 10.1158/2159-8290.CD-20-0402
PMCID:
PMC7710601
AbstractArticlePDF–1.5M
7.
Genome-Wide Association Study Identifies Novel Loci Associated with Circulating Phospho- and Sphingolipid Concentrations
Ayşe Demirkan, Cornelia M. van Duijn, Peter Ugocsai, Aaron Isaacs, Peter P. Pramstaller, Gerhard Liebisch, James F. Wilson, Åsa Johansson, Igor Rudan, Yurii S. Aulchenko, Anatoly V. Kirichenko, A. Cecile J. W. Janssens, Ritsert C. Jansen, Carsten Gnewuch, Francisco S. Domingues, Cristian Pattaro, Sarah H. Wild, Inger Jonasson, Ozren Polasek, Irina V. Zorkoltseva, Albert Hofman, Lennart C. Karssen, Maksim Struchalin, James Floyd, Wilmar Igl, Zrinka Biloglav, Linda Broer, Arne Pfeufer, Irene Pichler, Susan Campbell, Ghazal Zaboli, Ivana Kolcic, Fernando Rivadeneira, Jennifer Huffman, Nicholas D. Hastie, Andre Uitterlinden, Lude Franke, Christopher S. Franklin, Veronique Vitart, DIAGRAM Consortium, Christopher P. Nelson, Michael Preuss, CARDIoGRAM Consortium, Joshua C. Bis, Christopher J. O'Donnell, Nora Franceschini, CHARGE Consortium, Jacqueline C. M. Witteman, Tatiana Axenovich, Ben A. Oostra, Thomas Meitinger, Andrew A. Hicks, Caroline Hayward, Alan F. Wright, Ulf Gyllensten, Harry Campbell, Gerd Schmitz, on behalf of the EUROSPAN consortium
PLoS Genet. 2012 Feb; 8(2): e1002490. Published online 2012 Feb 16. doi: 10.1371/journal.pgen.1002490
PMCID:
PMC3280968
AbstractArticlePDF–592K
8.
MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity
Oliver Stehling, Ajay A. Vashisht, Judita Mascarenhas, Zophonias O. Jonsson, Tanu Sharma, Daili J.A. Netz, Antonio J. Pierik, James A. Wohlschlegel, Roland Lill
Science. Author manuscript; available in PMC 2013 Jan 13.
Published in final edited form as: Science. 2012 Jul 13; 337(6091): 195–199. Published online 2012 Jun 7. doi: 10.1126/science.1219723
PMCID:
PMC3420340
AbstractArticlePDF–1.8M
9.
Phosphorylation switches protein disulfide isomerase activity to maintain proteostasis and attenuate ER stress
Jiaojiao Yu, Tao Li, Yu Liu, Xi Wang, Jianchao Zhang, Xi'e Wang, Guizhi Shi, Jizhong Lou, Likun Wang, Chih‐chen Wang, Lei Wang
EMBO J. 2020 May 18; 39(10): e103841. Published online 2020 Mar 9. doi: 10.15252/embj.2019103841
PMCID:
PMC7232009
AbstractArticlePDF–5.5M
10.
Multi-omics profiling identifies a deregulated FUS-MAP1B axis in ALS/FTD–associated UBQLN2 mutants
Laura Strohm, Zehan Hu, Yongwon Suk, Alina Rühmkorf, Erin Sternburg, Vanessa Gattringer, Henrick Riemenschneider, Riccardo Berutti, Elisabeth Graf, Jochen H Weishaupt, Monika S Brill, Angelika B Harbauer, Dorothee Dormann, Jörn Dengjel, Dieter Edbauer, Christian Behrends
Life Sci Alliance. 2022 Nov; 5(11): e202101327. Published online 2022 Jul 1. doi: 10.26508/lsa.202101327
PMCID:
PMC9258132
AbstractArticlePDF–5.9M
11.
BioID reveals an ATG9A interaction with ATG13‐ATG101 in the degradation of p62/SQSTM1‐ubiquitin clusters
Ashari R Kannangara, Daniel M Poole, Colten M McEwan, Joshua C Youngs, Vajira K Weerasekara, Alex M Thornock, Misael T Lazaro, Eranga R Balasooriya, Laura M Oh, Erik J Soderblom, Jonathan J Lee, Daniel L Simmons, Joshua L Andersen
EMBO Rep. 2021 Oct 5; 22(10): e51136. Published online 2021 Aug 9. doi: 10.15252/embr.202051136
PMCID:
PMC8490997
AbstractArticlePDF–4.5M
12.
hnRNPA1 couples nuclear export and translation of specific mRNAs downstream of FGF-2/S6K2 signalling
Rajat Roy, Danielle Durie, Hui Li, Bing-Qian Liu, John Mark Skehel, Francesco Mauri, Lucia Veronica Cuorvo, Mattia Barbareschi, Lin Guo, Martin Holcik, Michael J. Seckl, Olivier E. Pardo
Nucleic Acids Res. 2014 Nov 10; 42(20): 12483–12497. Published online 2014 Oct 16. doi: 10.1093/nar/gku953
Correction in:
Nucleic Acids Res. 2024 Jul 22; 52(13): 8034.
PMCID:
PMC4227786
AbstractArticlePDF–688K
13.
Bcl2-associated Athanogene 3 Interactome Analysis Reveals a New Role in Modulating Proteasome Activity
Ying Chen, Li-Na Yang, Li Cheng, Shun Tu, Shu-Juan Guo, Huang-Ying Le, Qian Xiong, Ran Mo, Chong-Yang Li, Jun-Seop Jeong, Lizhi Jiang, Seth Blackshaw, Li-Jun Bi, Heng Zhu, Sheng-Ce Tao, Feng Ge
Mol Cell Proteomics. 2013 Oct; 12(10): 2804–2819. Published online 2013 Jul 3. doi: 10.1074/mcp.M112.025882
PMCID:
PMC3790292
AbstractArticlePDF–2.6M
14.
DNA Repair Network Analysis Reveals Shieldin as a Key Regulator of NHEJ and PARP Inhibitor Sensitivity
Rajat Gupta, Kumar Somyajit, Takeo Narita, Elina Maskey, Andre Stanlie, Magdalena Kremer, Dimitris Typas, Michael Lammers, Niels Mailand, Andre Nussenzweig, Jiri Lukas, Chunaram Choudhary
Cell. Author manuscript; available in PMC 2021 May 10.
Published in final edited form as: Cell. 2018 May 3; 173(4): 972–988.e23. Published online 2018 Apr 12. doi: 10.1016/j.cell.2018.03.050
PMCID:
PMC8108093
AbstractArticlePDF–3.5M
15.
Interpreting cancer genomes using systematic host perturbations by tumour virus proteins
Orit Rozenblatt-Rosen, Rahul C. Deo, Megha Padi, Guillaume Adelmant, Michael A. Calderwood, Thomas Rolland, Miranda Grace, Amélie Dricot, Manor Askenazi, Maria Tavares, Sam Pevzner, Fieda Abderazzaq, Danielle Byrdsong, Anne-Ruxandra Carvunis, Alyce A. Chen, Jingwei Cheng, Mick Correll, Melissa Duarte, Changyu Fan, Mariet C. Feltkamp, Scott B. Ficarro, Rachel Franchi, Brijesh K. Garg, Natali Gulbahce, Tong Hao, Amy M. Holthaus, Robert James, Anna Korkhin, Larisa Litovchick, Jessica C. Mar, Theodore R. Pak, Sabrina Rabello, Renee Rubio, Yun Shen, Saurav Singh, Jennifer M. Spangle, Murat Tasan, Shelly Wanamaker, James T. Webber, Jennifer Roecklein-Canfield, Eric Johannsen, Albert-László Barabási, Rameen Beroukhim, Elliott Kieff, Michael E. Cusick, David E. Hill, Karl Münger, Jarrod A. Marto, John Quackenbush, Frederick P. Roth, James A. DeCaprio, Marc Vidal
Nature. Author manuscript; available in PMC 2013 Jan 26.
Published in final edited form as: Nature. 2012 Jul 26; 487(7408): 491–495. doi: 10.1038/nature11288
PMCID:
PMC3408847
AbstractArticlePDF–937K
16.
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
AbstractArticlePDF–2.4M
17.
?F508 CFTR interactome remodeling promotes rescue of Cystic Fibrosis
Sandra Pankow, Casimir Bamberger, Diego Calzolari, Salvador Martínez-Bartolomé, Mathieu Lavallée-Adam, William E. Balch, John R. Yates, III
Nature. Author manuscript; available in PMC 2016 May 30.
Published in final edited form as: Nature. 2015 Dec 24; 528(7583): 510–516. Published online 2015 Nov 30. doi: 10.1038/nature15729
PMCID:
PMC4826614
AbstractArticlePDF–5.7M
18.
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
AbstractArticlePDF–3.9M
19.
Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family
Xu Li, Kim My Tran, Kathryn E. Aziz, Alexey V. Sorokin, Junjie Chen, Wenqi Wang
Mol Cell Proteomics. 2016 Sep; 15(9): 3030–3044. Published online 2016 Jul 18. doi: 10.1074/mcp.M116.060277
PMCID:
PMC5013315
AbstractArticlePDF–3.2M
20.
LMBR1L regulates lymphopoiesis through Wnt/β-catenin signaling
Jin Huk Choi, Xue Zhong, William McAlpine, Tzu-Chieh Liao, Duanwu Zhang, Beibei Fang, Jamie Russell, Sara Ludwig, Evan Nair-Gill, Zhao Zhang, Kuan-wen Wang, Takuma Misawa, Xiaoming Zhan, Mihwa Choi, Tao Wang, Xiaohong Li, Miao Tang, Qihua Sun, Liyang Yu, Anne R. Murray, Eva Marie Y. Moresco, Bruce Beutler
Science. Author manuscript; available in PMC 2020 May 8.
Published in final edited form as: Science. 2019 May 10; 364(6440): eaau0812. doi: 10.1126/science.aau0812
PMCID:
PMC7206793
AbstractArticlePDF–2.2M

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