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Items: 1 to 20 of 32

1.
Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis
Ana Marín-Quílez, Christian Andrea Di Buduo, Lorena Díaz-Ajenjo, Vittorio Abbonante, Elena Vuelta, Paolo Maria Soprano, Cristina Miguel-García, Sandra Santos-Mínguez, Inmaculada Serramito-Gómez, Pedro Ruiz-Sala, María Jesús Peñarrubia, Emilia Pardal, Jesús María Hernández-Rivas, José Ramón González-Porras, Ignacio García-Tuñón, Rocío Benito, José Rivera, Alessandra Balduini, José María Bastida
Blood. 2023 Jan 26; 141(4): 406–421. Published online 2022 Nov 21. doi: 10.1182/blood.2022016995
PMCID:
PMC10644051
Article
2.
Human UDP-galactose 4′-epimerase (GALE) is required for cell-surface glycome structure and function
Alex Broussard, Alyssa Florwick, Chelsea Desbiens, Nicole Nischan, Corrina Robertson, Ziqiang Guan, Jennifer J. Kohler, Lance Wells, Michael Boyce
J Biol Chem. 2020 Jan 31; 295(5): 1225–1239. Published online 2019 Dec 9. doi: 10.1074/jbc.RA119.009271
PMCID:
PMC6996900
ArticlePDF–3.6M
3.
Overexpression of UDP-Glucose 4-Epimerase Is Associated with Differentiation Grade of Gastric Cancer
Maria de Fátima Deodato de Souza, Antônio Felix da Silva Filho, Amanda Pinheiro de Barros Albuquerque, Michael Williams Leal Quirino, Mário Sérgio de Souza Albuquerque, Marina Ferraz Cordeiro, Mário Rino Martins, Ivan da Rocha Pitta, Antônio Roberto Lucena-Araujo, Maira Galdino da Rocha Pitta, Moacyr Jesus Barreto de Melo Rêgo
Dis Markers. 2019; 2019: 6325326. Published online 2019 Nov 20. doi: 10.1155/2019/6325326
PMCID:
PMC6886318
ArticlePDF–1.0M
4.
Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE)
Aaron Seo, Suleyman Gulsuner, Sarah Pierce, Miri Ben-Harosh, Hanna Shalev, Tom Walsh, Tanya Krasnov, Orly Dgany, Sergei Doulatov, Hannah Tamary, Akiko Shimamura, Mary-Claire King
Hum Mol Genet. 2019 Jan 1; 28(1): 133–142. Published online 2018 Sep 20. doi: 10.1093/hmg/ddy334
PMCID:
PMC6298239
ArticlePDF–6.1M
5.
Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase.
B B Quimby, A Alano, S Almashanu, A M DeSandro, T M Cowan, J L Fridovich-Keil
Am J Hum Genet. 1997 Sep; 61(3): 590–598. doi: 10.1086/515517
PMCID:
PMC1715948
SummaryPage BrowsePDF–1.6M
6.
Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency.
J B Holton, M G Gillett, R MacFaul, R Young
Arch Dis Child. 1981 Nov; 56(11): 885–887. doi: 10.1136/adc.56.11.885
PMCID:
PMC1627389
SummaryPage BrowsePDF–444K
7.
Epimerase-Deficiency Galactosemia Is Not a Binary Condition
Kimberly K. Openo, Jenny M. Schulz, Claudia A. Vargas, Corey S. Orton, Michael P. Epstein, Rhonda E. Schnur, Fernando Scaglia, Gerard T. Berry, Gary S. Gottesman, Can Ficicioglu, Alfred E. Slonim, Richard J. Schroer, Chunli Yu, Vanessa E. Rangel, Jennifer Keenan, Kerri Lamance, Judith L. Fridovich-Keil
Am J Hum Genet. 2006 Jan; 78(1): 89–102. Published online 2005 Nov 14. doi: 10.1086/498985
PMCID:
PMC1380226
ArticlePDF–962K
8.
Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia.
T M Wohlers, N C Christacos, M T Harreman, J L Fridovich-Keil
Am J Hum Genet. 1999 Feb; 64(2): 462–470. doi: 10.1086/302263
PMCID:
PMC1377755
SummaryPDF–425K
9.
Altered cofactor binding affects stability and activity of human UDP-galactose 4′-epimerase: implications for type III galactosemia
Thomas J. McCorvie, Ying Liu, Andrew Frazer, Tyler J. Gleason, Judith L. Fridovich-Keil, David J. Timson
Biochim Biophys Acta. Author manuscript; available in PMC 2013 Oct 1.
Published in final edited form as: Biochim Biophys Acta. 2012 Oct; 1822(10): 1516–1526. Published online 2012 May 18. doi: 10.1016/j.bbadis.2012.05.007
PMCID:
PMC3418473
ArticlePDF–4.2M
10.
A Massively Parallel Pipeline to Clone DNA Variants and Examine Molecular Phenotypes of Human Disease Mutations
Xiaomu Wei, Jishnu Das, Robert Fragoza, Jin Liang, Francisco M. Bastos de Oliveira, Hao Ran Lee, Xiujuan Wang, Matthew Mort, Peter D. Stenson, David N. Cooper, Steven M. Lipkin, Marcus B. Smolka, Haiyuan Yu
PLoS Genet. 2014 Dec; 10(12): e1004819. Published online 2014 Dec 11. doi: 10.1371/journal.pgen.1004819
PMCID:
PMC4263371
ArticlePDF–7.6M
11.
MET Inhibitors Promote Liver Tumor Evasion of the Immune Response by Stabilizing PDL1
Hui Li, Chia-Wei Li, Xiaoqiang Li, Qingqing Ding, Lei Guo, Shuang Liu, Chunxiao Liu, Chien-Chen Lai, Jung-Mao Hsu, Qiongzhu Dong, Weiya Xia, Jennifer L. Hsu, Hirohito Yamaguchi, Yi Du, Yun-Ju Lai, Xian Sun, Paul B. Koller, Qinghai Ye, Mien-Chie Hung
Gastroenterology. Author manuscript; available in PMC 2020 May 1.
Published in final edited form as: Gastroenterology. 2019 May; 156(6): 1849–1861.e13. Published online 2019 Jan 31. doi: 10.1053/j.gastro.2019.01.252
PMCID:
PMC6904924
ArticlePDF–2.0M
12.
Mitochondrial Raf1 Regulates Glutamine Catabolism
Ronald L. Shanderson, Ian D. Ferguson, Zurab Siprashvili, Luca Ducoli, Albert M. Li, Weili Miao, Suhas Srinivasan, Mary Grace Velasco, Yang Li, Jiangbin Ye, Paul A. Khavari
Version 1. bioRxiv. Preprint. 2024 Mar 9. doi: 10.1101/2024.03.08.581297
PMCID:
PMC10942467
ArticlePDF–6.5M
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
ArticlePDF–2.6M
14.
Proteomic Analysis of Integrin-Associated Complexes Identifies RCC2 as a Dual Regulator of Rac1 and Arf6
Jonathan D. Humphries, Adam Byron, Mark D. Bass, Sue E. Craig, John W. Pinney, David Knight, Martin J. Humphries
Sci Signal. Author manuscript; available in PMC 2010 Apr 21.
Published in final edited form as: Sci Signal. 2009 Sep 8; 2(87): ra51. Published online 2009 Sep 8. doi: 10.1126/scisignal.2000396
PMCID:
PMC2857963
ArticlePDF–1.8M
15.
Competitive binding of E3 ligases TRIM26 and WWP2 controls SOX2 in glioblastoma
Tatenda Mahlokozera, Bhuvic Patel, Hao Chen, Patrick Desouza, Xuan Qu, Diane D. Mao, Daniel Hafez, Wei Yang, Rukayat Taiwo, Mounica Paturu, Afshin Salehi, Amit D. Gujar, Gavin P. Dunn, Nima Mosammaparast, Allegra A. Petti, Hiroko Yano, Albert H. Kim
Nat Commun. 2021; 12: 6321. Published online 2021 Nov 3. doi: 10.1038/s41467-021-26653-6
PMCID:
PMC8566473
ArticlePDF–2.7M
16.
Genetic and Proteomic Interrogation of Lower Confidence Candidate Genes Reveals Signaling Networks in β-Catenin-Active Cancers
Joseph Rosenbluh, Johnathan Mercer, Yashaswi Shrestha, Rachel Oliver, Pablo Tamayo, John G. Doench, Itay Tirosh, Federica Piccioni, Ella Hartenian, Heiko Horn, Lola Fagbami, David E. Root, Jacob Jaffe, Kasper Lage, Jesse S. Boehm, William C. Hahn
Cell Syst. Author manuscript; available in PMC 2017 Sep 28.
Published in final edited form as: Cell Syst. 2016 Sep 28; 3(3): 302–316.e4. doi: 10.1016/j.cels.2016.09.001
PMCID:
PMC5455996
ArticlePDF–3.1M
17.
Proteome-wide identification of HSP70/HSC70 chaperone clients in human cells
Seung W. Ryu, Rose Stewart, D. Chase Pectol, Nicolette A. Ender, Oshadi Wimalarathne, Ji-Hoon Lee, Carlos P. Zanini, Antony Harvey, Jon M. Huibregtse, Peter Mueller, Tanya T. Paull
PLoS Biol. 2020 Jul; 18(7): e3000606. Published online 2020 Jul 20. doi: 10.1371/journal.pbio.3000606
PMCID:
PMC7392334
ArticlePDF–2.7M
18.
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations
Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu
Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3
PMCID:
PMC6742646
ArticlePDF–1.2M
19.
Interactions of Pathological Hallmark Proteins: TUBULIN POLYMERIZATION PROMOTING PROTEIN/p25, β-AMYLOID, AND α-SYNUCLEIN
Judit Oláh, Orsolya Vincze, Dezső Virók, Dóra Simon, Zsolt Bozsó, Natália Tőkési, István Horváth, Emma Hlavanda, János Kovács, Anna Magyar, Mária Szűcs, Ferenc Orosz, Botond Penke, Judit Ovádi
J Biol Chem. 2011 Sep 30; 286(39): 34088–34100. Published online 2011 Aug 8. doi: 10.1074/jbc.M111.243907
PMCID:
PMC3190826
ArticlePDF–5.7M
20.
Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer
Athea Vichas, Amanda K. Riley, Naomi T. Nkinsi, Shriya Kamlapurkar, Phoebe C. R. Parrish, April Lo, Fujiko Duke, Jennifer Chen, Iris Fung, Jacqueline Watson, Matthew Rees, Austin M. Gabel, James D. Thomas, Robert K. Bradley, John K. Lee, Emily M. Hatch, Marina K. Baine, Natasha Rekhtman, Marc Ladanyi, Federica Piccioni, Alice H. Berger
Nat Commun. 2021; 12: 4789. Published online 2021 Aug 9. doi: 10.1038/s41467-021-24841-y
PMCID:
PMC8352964
ArticlePDF–4.5M

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