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Select item 50063891.

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

Article PDF–103K

Select item 29066692.

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

Article PDF–920K

Select item 12885513.

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

Article PDF–1.5M

Select item 28833444.

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

Article PDF–144K

Select item 35238055.

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

Article PDF–1.7M

Select item 44618376.

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

Article PDF–2.3M

Select item 93459697.

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

PMCID:: PMC9345969

Article PDF–2.3M

Select item 71151288.

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

Article PDF–1.6M

Select item 59350749.

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

Article PDF–5.9M

Select item 662002810.

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

Article PDF–2.9M

Select item 461025711.

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

Article PDF–4.5M

Select item 630048712.

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

Article PDF–1.8M

Select item 546003513.

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

Article PDF–2.9M

Select item 408310614.

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

Article PDF–2.6M

Select item 138022515.

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

Article PDF–329K

Select item 555356816.

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

Article PDF–1.8M

Select item 1626717.

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

Article PDF–111K

Select item 889438018.

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

Article PDF–5.6M

Select item 796055019.

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

Article PDF–1.5M

Select item 995018320.

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

Article PDF–2.4M

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