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Items: 1 to 20 of 30

1.
Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5′-Phosphate Oxidase-Dependent Epilepsy
Anna Barile, Philippa Mills, Martino L. di Salvo, Claudio Graziani, Victoria Bunik, Peter Clayton, Roberto Contestabile, Angela Tramonti
Int J Mol Sci. 2021 Nov; 22(21): 12013. Published online 2021 Nov 6. doi: 10.3390/ijms222112013
PMCID:
PMC8584306
AbstractArticlePDF–2.6M
2.
Phenotypic and molecular spectrum of pyridoxamine‐5′‐phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine‐5′‐phosphate oxidase deficiency
Malak Alghamdi, Fahad A. Bashiri, Marwa Abdelhakim, Nouran Adly, Dima Z. Jamjoom, Khalid M. Sumaily, Bandar Alghanem, Stefan T. Arold
Clin Genet. 2021 Jan; 99(1): 99–110. Published online 2020 Sep 16. doi: 10.1111/cge.13843
PMCID:
PMC7820968
AbstractArticlePDF–3.1M
3.
Molecular characterization of pyridoxine 5′-phosphate oxidase and its pathogenic forms associated with neonatal epileptic encephalopathy
Anna Barile, Isabel Nogués, Martino L. di Salvo, Victoria Bunik, Roberto Contestabile, Angela Tramonti
Sci Rep. 2020; 10: 13621. Published online 2020 Aug 12. doi: 10.1038/s41598-020-70598-7
PMCID:
PMC7424515
AbstractArticlePDF–3.4M
4.
Pyridoxine 5′-phosphate oxidase is correlated with human breast invasive ductal carcinoma development
Weimin Ren, Wencai Guan, Jinguo Zhang, Fanchen Wang, Guoxiong Xu
Aging (Albany NY) 2019 Apr 15; 11(7): 2151–2176. Published online 2019 Apr 14. doi: 10.18632/aging.101908
PMCID:
PMC6503878
AbstractArticlePDF–6.6M
5.
Pyridoxine responsiveness in novel mutations of the PNPO gene
Barbara Plecko, Karl Paul, Philippa Mills, Peter Clayton, Eduard Paschke, Oliver Maier, Oswald Hasselmann, Gudrun Schmiedel, Simone Kanz, Mary Connolly, Nicole Wolf, Eduard Struys, Sylvia Stockler, Lucia Abela, Doris Hofer
Neurology. 2014 Apr 22; 82(16): 1425–1433. doi: 10.1212/WNL.0000000000000344
PMCID:
PMC4001193
AbstractArticlePDF–450K
6.
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome
Philippa B. Mills, Stephane S.M. Camuzeaux, Emma J. Footitt, Kevin A. Mills, Paul Gissen, Laura Fisher, Krishna B. Das, Sophia M. Varadkar, Sameer Zuberi, Robert McWilliam, Tommy Stödberg, Barbara Plecko, Matthias R. Baumgartner, Oliver Maier, Sophie Calvert, Kate Riney, Nicole I. Wolf, John H. Livingston, Pronab Bala, Chantal F. Morel, François Feillet, Francesco Raimondi, Ennio Del Giudice, W. Kling Chong, Matthew Pitt, Peter T. Clayton
Brain. 2014 May; 137(5): 1350–1360. Published online 2014 Mar 18. doi: 10.1093/brain/awu051
PMCID:
PMC3999720
AbstractArticlePDF–224K
7.
It Takes Two to Tango: Defining an Essential Second Active Site in Pyridoxal 5′-Phosphate Synthase
Cyril Moccand, Markus Kaufmann, Teresa B. Fitzpatrick
PLoS One. 2011; 6(1): e16042. Published online 2011 Jan 21. doi: 10.1371/journal.pone.0016042
PMCID:
PMC3024981
AbstractArticlePDF–1.6M
8.
Molecular Basis of Reduced Pyridoxine 5′-Phosphate Oxidase Catalytic Activity in Neonatal Epileptic Encephalopathy Disorder
Faik N. Musayev, Martino L. Di Salvo, Mario A. Saavedra, Roberto Contestabile, Mohini S. Ghatge, Alexina Haynes, Verne Schirch, Martin K. Safo
J Biol Chem. 2009 Nov 6; 284(45): 30949–30956. Published online 2009 Sep 15. doi: 10.1074/jbc.M109.038372
PMCID:
PMC2781495
AbstractArticlePDF–1.2M
9.
Activation of human RNA lariat debranching enzyme Dbr1 by binding protein TTDN1 occurs though an intrinsically disordered C-terminal domain
Nathaniel E. Clark, Adam Katolik, Pascal Gallant, Anastasia Welch, Eileen Murphy, Luke Buerer, Christoph Schorl, Nandita Naik, Mandar T. Naik, Stephen P. Holloway, Kristin Cano, Susan T. Weintraub, Katherine M. Howard, P. John Hart, Gerwald Jogl, Masad J. Damha, William G. Fairbrother
J Biol Chem. 2023 Sep; 299(9): 105100. Published online 2023 Jul 26. doi: 10.1016/j.jbc.2023.105100
PMCID:
PMC10470207
AbstractArticlePDF–1.9M
10.
Structure and properties of recombinant human pyridoxine 5′-phosphate oxidase
Faik N. Musayev, Martino L. Di Salvo, Tzu-Ping Ko, Verne Schirch, Martin K. Safo
Protein Sci. 2003 Jul; 12(7): 1455–1463. doi: 10.1110/ps.0356203
PMCID:
PMC2323923
AbstractArticlePDF–421K
11.
Pyridoxine 5′-phosphate oxidase is a novel therapeutic target and regulated by the TGF-β signalling pathway in epithelial ovarian cancer
Lingyun Zhang, Daibing Zhou, Wencai Guan, Weimin Ren, Wenwen Sun, Jimin Shi, Qunbo Lin, Jinguo Zhang, Tiankui Qiao, Yulong Ye, Yun Wu, Yaning Zhang, Xulei Zuo, Kristin L Connor, Guoxiong Xu
Cell Death Dis. 2017 Dec; 8(12): 3214. Published online 2017 Dec 13. doi: 10.1038/s41419-017-0050-3
PMCID:
PMC5870590
AbstractArticlePDF–3.8M
12.
The intracellular NADH level regulates atrophic nonunion pathogenesis through the CtBP2-p300-Runx2 transcriptional complex
Wentao Zhang, Ning Duan, Qian Zhang, Tao Song, Zhong Li, Xun Chen, Kunzheng Wang
Int J Biol Sci. 2018; 14(14): 2023–2036. Published online 2018 Nov 3. doi: 10.7150/ijbs.28302
PMCID:
PMC6299368
AbstractArticlePDF–2.0M
13.
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
AbstractArticlePDF–2.3M
14.
A conserved acetylation switch enables pharmacological control of tubby-like protein stability
Evan M. Kerek, Kevin H. Yoon, Shu Y. Luo, Jerry Chen, Robert Valencia, Olivier Julien, Andrew J. Waskiewicz, Basil P. Hubbard
J Biol Chem. 2021 Jan-Jun; 296: 100073. Published online 2020 Nov 23. doi: 10.1074/jbc.RA120.015839
PMCID:
PMC7948452
AbstractArticlePDF–3.6M
15.
Widespread Macromolecular Interaction Perturbations in Human Genetic Disorders
Nidhi Sahni, Song Yi, Mikko Taipale, Juan I. Fuxman Bass, Jasmin Coulombe-Huntington, Fan Yang, Jian Peng, Jochen Weile, Georgios I. Karras, Yang Wang, István A. Kovács, Atanas Kamburov, Irina Krykbaeva, Mandy H. Lam, George Tucker, Vikram Khurana, Amitabh Sharma, Yang-Yu Liu, Nozomu Yachie, Quan Zhong, Yun Shen, Alexandre Palagi, Adriana San-Miguel, Changyu Fan, Dawit Balcha, Amelie Dricot, Daniel M. Jordan, Jennifer M. Walsh, Akash A. Shah, Xinping Yang, Ani Stoyanova, Alex Leighton, Michael A. Calderwood, Yves Jacob, Michael E. Cusick, Kourosh Salehi-Ashtiani, Luke J. Whitesell, Shamil Sunyaev, Bonnie Berger, Albert-László Barabási, Benoit Charloteaux, David E. Hill, Tong Hao, Frederick P. Roth, Yu Xia, Albertha J.M. Walhout, Susan Lindquist, Marc Vidal
Cell. Author manuscript; available in PMC 2016 Apr 23.
Published in final edited form as: Cell. 2015 Apr 23; 161(3): 647–660. doi: 10.1016/j.cell.2015.04.013
PMCID:
PMC4441215
AbstractArticlePDF–1.2M
16.
Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism
Michael Aregger, Keith A. Lawson, Maximillian Billmann, Michael Costanzo, Amy H. Y. Tong, Katherine Chan, Mahfuzur Rahman, Kevin R. Brown, Catherine Ross, Matej Usaj, Lucy Nedyalkova, Olga Sizova, Andrea Habsid, Judy Pawling, Zhen-Yuan Lin, Hala Abdouni, Cassandra J. Wong, Alexander Weiss, Patricia Mero, James W. Dennis, Anne-Claude Gingras, Chad L. Myers, Brenda J. Andrews, Charles Boone, Jason Moffat
Nat Metab. Author manuscript; available in PMC 2020 Dec 1.
Published in final edited form as: Nat Metab. 2020 Jun; 2(6): 499–513. Published online 2020 Jun 1. doi: 10.1038/s42255-020-0211-z
PMCID:
PMC7566881
AbstractArticlePDF–4.8M
17.
Ubiquitin-mediated proteolysis of HuR by heat shock
Kotb Abdelmohsen, Subramanya Srikantan, Xiaoling Yang, Ashish Lal, Hyeon Ho Kim, Yuki Kuwano, Stefanie Galban, Kevin G Becker, Davida Kamara, Rafael de Cabo, Myriam Gorospe
EMBO J. 2009 May 6; 28(9): 1271–1282. Published online 2009 Mar 26. doi: 10.1038/emboj.2009.67
PMCID:
PMC2683047
AbstractArticlePDF–1.4M
18.
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
AbstractArticlePDF–5.7M
19.
A Census of Human Soluble Protein Complexes
Pierre C. Havugimana, G. Traver Hart, Tamás Nepusz, Haixuan Yang, Andrei L. Turinsky, Zhihua Li, Peggy I. Wang, Daniel R. Boutz, Vincent Fong, Sadhna Phanse, Mohan Babu, Stephanie A. Craig, Pingzhao Hu, Cuihong Wan, James Vlasblom, Vaqaarun-Nisa Dar, Alexander Bezginov, Gregory W. Clark, Gabriel C. Wu, Shoshana J. Wodak, Elisabeth R.M. Tillier, Alberto Paccanaro, Edward M. Marcotte, Andrew Emili
Cell. Author manuscript; available in PMC 2013 Aug 31.
Published in final edited form as: Cell. 2012 Aug 31; 150(5): 1068–1081. doi: 10.1016/j.cell.2012.08.011
PMCID:
PMC3477804
AbstractArticlePDF–7.7M
20.
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
AbstractArticlePDF–2.5M

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