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Items: 1 to 20 of 49

1.
Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin
Sandra C. Van Calcar, Mei W. Baker, Phillip Williams, Susan A. Jones, Blia Xiong, Mai Choua Thao, Sheng Lee, Mai Khou Yang, Greg M. Rice, William Rhead, Jerry Vockley, Gary Hoffman, Maureen S. Durkin
Mol Genet Metab. Author manuscript; available in PMC 2016 Aug 31.
Published in final edited form as: Mol Genet Metab. 2013 Sep-Oct; 110(1-2): 111–115. Published online 2013 Apr 15. doi: 10.1016/j.ymgme.2013.03.021
PMCID:
PMC5006389
AbstractArticlePDF–103K
2.
Characterization of New ACADSB Gene Sequence Mutations and Clinical Implications in Patients with 2-Methylbutyrylglycinuria Identified by Newborn Screening
Jaffar Alfardan, Al-Walid Mohsen, Sara Copeland, Jay Ellison, Laura Keppen-Davis, Marianne Rohrbach, Berkley R. Powell, Jane Gillis, Dietrich Matern, Jeffrey Kant, Jerry Vockley
Mol Genet Metab. Author manuscript; available in PMC 2011 Aug 1.
Published in final edited form as: Mol Genet Metab. 2010 Aug; 100(4): 333–338. Published online 2010 May 23. doi: 10.1016/j.ymgme.2010.04.014
PMCID:
PMC2906669
AbstractArticlePDF–920K
3.
Isolated 2-Methylbutyrylglycinuria Caused by Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Identification of a New Enzyme Defect, Resolution of Its Molecular Basis, and Evidence for Distinct Acyl-CoA Dehydrogenases in Isoleucine And Valine Metabolism
Brage Storstein Andresen, Ernst Christensen, Thomas J. Corydon, Peter Bross, Bente Pilgaard, Ronald J. A. Wanders, Jos P. N. Ruiter, Henrik Simonsen, Vibeke Winter, Inga Knudsen, Lisbeth Dahl Schroeder, Niels Gregersen, Flemming Skovby
Am J Hum Genet. 2000 Nov; 67(5): 1095–1103. Published online 2000 Sep 29. doi: 10.1086/303105
PMCID:
PMC1288551
AbstractArticlePDF–1.5M
4.
Genome-wide association study of circulating vitamin D levels
Jiyoung Ahn, Kai Yu, Rachael Stolzenberg-Solomon, K. Claire Simon, Marjorie L. McCullough, Lisa Gallicchio, Eric J. Jacobs, Alberto Ascherio, Kathy Helzlsouer, Kevin B. Jacobs, Qizhai Li, Stephanie J. Weinstein, Mark Purdue, Jarmo Virtamo, Ronald Horst, William Wheeler, Stephen Chanock, David J. Hunter, Richard B. Hayes, Peter Kraft, Demetrius Albanes
Hum Mol Genet. 2010 Jul 1; 19(13): 2739–2745. Published online 2010 Apr 23. doi: 10.1093/hmg/ddq155
PMCID:
PMC2883344
AbstractArticlePDF–144K
5.
Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing
Sarah E. Calvo, Alison G. Compton, Steven G. Hershman, Sze Chern Lim, Daniel S. Lieber, Elena J. Tucker, Adrienne Laskowski, Caterina Garone, Shangtao Liu, David B. Jaffe, John Christodoulou, Janice M. Fletcher, Damien L Bruno, Jack Goldblatt, Salvatore DiMauro, David R. Thorburn, Vamsi K. Mootha
Sci Transl Med. Author manuscript; available in PMC 2012 Dec 17.
Published in final edited form as: Sci Transl Med. 2012 Jan 25; 4(118): 118ra10. doi: 10.1126/scitranslmed.3003310
PMCID:
PMC3523805
AbstractArticlePDF–1.7M
6.
Inhibition of the mitochondrial protease, ClpP, as a therapeutic strategy for human acute myeloid leuekmia
Alicia Cole, Zezhou Wang, Etienne Coyaud, Veronique Voisin, Marcela Gronda, Yulia Jitkova, Rachel Mattson, Rose Hurren, Sonja Babovic, Neil Maclean, Ian Restall, Xiaoming Wang, Danny V. Jeyaraju, Mahadeo A. Sukhai, Swayam Prabha, Shaheena Bashir, Ashwin Ramakrishnan, Elisa Leung, Yi Hua Qia, Nianxian Zhang, Kevin R. Combes, Troy Ketela, Fengshu Lin, Walid A. Houry, Ahmed Aman, Rima Al-awar, Wei Zheng, Erno Wienholds, Chang Jiang Xu, John Dick, Jean C.Y. Wang, Jason Moffat, Mark D. Minden, Connie J. Eaves, Gary D. Bader, Zhenyue Hao, Steven M. Kornblau, Brian Raught, Aaron D. Schimmer
Cancer Cell. Author manuscript; available in PMC 2016 Jun 8.
Published in final edited form as: Cancer Cell. 2015 Jun 8; 27(6): 864–876. doi: 10.1016/j.ccell.2015.05.004
PMCID:
PMC4461837
AbstractArticlePDF–2.3M
7.
Targeted inhibition of ubiquitin signaling reverses metabolic reprogramming and suppresses glioblastoma growth
Rossella Delle Donne, Rosa Iannucci, Laura Rinaldi, Luca Roberto, Maria A. Oliva, Emanuela Senatore, Domenica Borzacchiello, Luca Lignitto, Giorgio Giurato, Francesca Rizzo, Assunta Sellitto, Francesco Chiuso, Salvatore Castaldo, Giovanni Scala, Virginia Campani, Valeria Nele, Giuseppe De Rosa, Chiara D’Ambrosio, Corrado Garbi, Andrea Scaloni, Alessandro Weisz, Concetta Ambrosino, Antonella Arcella, Antonio Feliciello
Commun Biol. 2022; 5: 780. Published online 2022 Aug 2. doi: 10.1038/s42003-022-03639-8
Correction in:
Commun Biol. 2024; 7: 1411.
PMCID:
PMC9345969
AbstractArticlePDF–2.3M
8.
Targeting RICTOR sensitizes SMAD4-negative colon cancer to irinotecan
Chen Khuan Wong, Arthur William Lambert, Sait Ozturk, Panagiotis Papageorgis, Delia Lopez, Ning Shen, Zaina Sen, Hamid Mostafavi Abdolmaleky, Balázs Győrffy, Hui Feng, Sam Thiagalingam
Mol Cancer Res. Author manuscript; available in PMC 2020 Sep 1.
Published in final edited form as: Mol Cancer Res. 2020 Mar; 18(3): 414–423. Published online 2020 Jan 13. doi: 10.1158/1541-7786.MCR-19-0525
PMCID:
PMC7115128
AbstractArticlePDF–1.6M
9.
Mapping the mammalian ribosome quality control complex interactome using proximity labeling approaches
Nathan Zuzow, Arit Ghosh, Marilyn Leonard, Jeffrey Liao, Bing Yang, Eric J. Bennett
Mol Biol Cell. 2018 May 15; 29(10): 1258–1269. doi: 10.1091/mbc.E17-12-0714
PMCID:
PMC5935074
AbstractArticlePDF–5.9M
10.
Mitochondrial ClpP-mediated proteolysis induces selective cancer cell lethality
Jo Ishizawa, Sarah F. Zarabi, R. Eric Davis, Ondrej Halgas, Takenobu Nii, Yulia Jitkova, Ran Zhao, Jonathan St-Germain, Lauren E. Heese, Grace Egan, Vivian R. Ruvolo, Samir H. Barghout, Yuki Nishida, Rose Hurren, Wencai Ma, Marcela Gronda, Todd Link, Keith Wong, Mark Mabanglo, Kensuke Kojima, Gautam Borthakur, Neil MacLean, John Man Chun Ma, Andrew B. Leber, Mark D. Minden, Walid Houry, Hagop Kantarjian, Martin Stogniew, Brian Raught, Emil F. Pai, Aaron D. Schimmer, Michael Andreeff
Cancer Cell. Author manuscript; available in PMC 2020 May 13.
Published in final edited form as: Cancer Cell. 2019 May 13; 35(5): 721–737.e9. Published online 2019 May 2. doi: 10.1016/j.ccell.2019.03.014
PMCID:
PMC6620028
AbstractArticlePDF–2.9M
11.
Systematic VCP-UBXD Adaptor Network Proteomics Identifies a Role for UBXN10 in Regulating Ciliogenesis
Malavika Raman, Mikhail Sergeev, Maija Garnaas, John R. Lydeard, Edward L. Huttlin, Wolfram Goessling, Jagesh V. Shah, J. Wade Harper
Nat Cell Biol. Author manuscript; available in PMC 2016 Apr 1.
Published in final edited form as: Nat Cell Biol. 2015 Oct; 17(10): 1356–1369. Published online 2015 Sep 21. doi: 10.1038/ncb3238
Correction in:
Nat Cell Biol. 2016 Mar; 18(3): 347.
PMCID:
PMC4610257
AbstractArticlePDF–4.5M
12.
Delineating WWOX Protein Interactome by Tandem Affinity Purification-Mass Spectrometry: Identification of Top Interactors and Key Metabolic Pathways Involved
Tabish Hussain, Jaeho Lee, Martin C. Abba, Junjie Chen, C. Marcelo Aldaz
Front Oncol. 2018; 8: 591. Published online 2018 Dec 13. doi: 10.3389/fonc.2018.00591
PMCID:
PMC6300487
AbstractArticlePDF–1.8M
13.
R2TP/Prefoldin-like component RUVBL1/RUVBL2 directly interacts with ZNHIT2 to regulate assembly of U5 small nuclear ribonucleoprotein
Philippe Cloutier, Christian Poitras, Mathieu Durand, Omid Hekmat, Émilie Fiola-Masson, Annie Bouchard, Denis Faubert, Benoit Chabot, Benoit Coulombe
Nat Commun. 2017; 8: 15615. Published online 2017 May 31. doi: 10.1038/ncomms15615
PMCID:
PMC5460035
AbstractArticlePDF–2.9M
14.
Proteomic Analysis of the Epidermal Growth Factor Receptor (EGFR) Interactome and Post-translational Modifications Associated with Receptor Endocytosis in Response to EGF and Stress
Jiefei Tong, Paul Taylor, Michael F. Moran
Mol Cell Proteomics. 2014 Jul; 13(7): 1644–1658. Published online 2014 May 5. doi: 10.1074/mcp.M114.038596
PMCID:
PMC4083106
AbstractArticlePDF–2.6M
15.
A Scan of Chromosome 10 Identifies a Novel Locus Showing Strong Association with Late-Onset Alzheimer Disease
Andrew Grupe, Yonghong Li, Charles Rowland, Petra Nowotny, Anthony L. Hinrichs, Scott Smemo, John S. K. Kauwe, Taylor J. Maxwell, Sara Cherny, Lisa Doil, Kristina Tacey, Ryan van Luchene, Amanda Myers, Fabienne Wavrant-De Vrièze, Mona Kaleem, Paul Hollingworth, Luke Jehu, Catherine Foy, Nicola Archer, Gillian Hamilton, Peter Holmans, Chris M. Morris, Joseph Catanese, John Sninsky, Thomas J. White, John Powell, John Hardy, Michael O’Donovan, Simon Lovestone, Lesley Jones, John C. Morris, Leon Thal, Michael Owen, Julie Williams, Alison Goate
Am J Hum Genet. 2006 Jan; 78(1): 78–88. Published online 2005 Nov 15. doi: 10.1086/498851
PMCID:
PMC1380225
AbstractArticlePDF–329K
16.
A role for mitochondrial translation in promotion of viability in K-Ras mutant cells
Timothy D. Martin, Danielle R. Cook, Mei Yuk Choi, Mamie Z. Li, Kevin M. Haigis, Stephen J. Elledge
Cell Rep. Author manuscript; available in PMC 2017 Aug 11.
Published in final edited form as: Cell Rep. 2017 Jul 11; 20(2): 427–438. doi: 10.1016/j.celrep.2017.06.061
PMCID:
PMC5553568
AbstractArticlePDF–1.8M
17.
Shotgun sequencing of the human transcriptome with ORF expressed sequence tags
Emmanuel Dias Neto, Ricardo Garcia Correa, Sergio Verjovski-Almeida, Marcelo R. S. Briones, Maria Aparecida Nagai, Wilson da Silva, Jr., Marco Antonio Zago, Silvana Bordin, Fernando Ferreira Costa, Gustavo Henrique Goldman, Alex F. Carvalho, Adriana Matsukuma, Gilson S. Baia, David H. Simpson, Adriana Brunstein, Paulo S. L. de Oliveira, Philipp Bucher, C. Victor Jongeneel, Michael J. O'Hare, Fernando Soares, Ricardo R. Brentani, Luis F. L. Reis, Sandro J. de Souza, Andrew J. G. Simpson
Proc Natl Acad Sci U S A. 2000 Mar 28; 97(7): 3491–3496. doi: 10.1073/pnas.97.7.3491
PMCID:
PMC16267
AbstractArticlePDF–111K
18.
A multi-factor trafficking site on the spliceosome remodeling enzyme BRR2 recruits C9ORF78 to regulate alternative splicing
Alexandra Bergfort, Marco Preußner, Benno Kuropka, İbrahim Avşar Ilik, Tarek Hilal, Gert Weber, Christian Freund, Tuğçe Aktaş, Florian Heyd, Markus C. Wahl
Nat Commun. 2022; 13: 1132. Published online 2022 Mar 3. doi: 10.1038/s41467-022-28754-2
PMCID:
PMC8894380
AbstractArticlePDF–5.6M
19.
USP11 mediates repair of DNA–protein cross-links by deubiquitinating SPRTN metalloprotease
Megan Perry, Meghan Biegert, Sai Sundeep Kollala, Halle Mallard, Grace Su, Manohar Kodavati, Natasha Kreiling, Alexander Holbrook, Gargi Ghosal
J Biol Chem. 2021 Jan-Jun; 296: 100396. Published online 2021 Feb 7. doi: 10.1016/j.jbc.2021.100396
PMCID:
PMC7960550
AbstractArticlePDF–1.5M
20.
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

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