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Select item 49706791.

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood

Marie Collet, Zahra Assouline, Damien Bonnet, Marlène Rio, Franck Iserin, Daniel Sidi, Alice Goldenberg, Caroline Lardennois, Metodi Dimitrov Metodiev, Birgit Haberberger, Tobias Haack, Arnold Munnich, Holger Prokisch, Agnès Rötig

Eur J Hum Genet. 2016 Aug; 24(8): 1112–1116. Published online 2015 Dec 16. doi: 10.1038/ejhg.2015.264

PMCID:: PMC4970679

Abstract Article PDF–221K

Select item 19509232.

A New Genetic Disorder in Mitochondrial Fatty Acid β-Oxidation: ACAD9 Deficiency

M. He, S. L. Rutledge, D. R. Kelly, C. A. Palmer, G. Murdoch, N. Majumder, R. D. Nicholls, Z. Pei, P. A. Watkins, J. Vockley

Am J Hum Genet. 2007 Jul; 81(1): 87–103. Published online 2007 Jun 4. doi: 10.1086/519219

PMCID:: PMC1950923

Abstract Article PDF–842K

Select item 103039253.

Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A)

Nina Brauer, Yuto Maruta, Miriam Lisci, Katharina Strege, Ilske Oschlies, Hikari Nakamura, Svea Böhm, Kai Lehmberg, Leon Brandhoff, Stephan Ehl, Nima Parvaneh, Wolfram Klapper, Mitsunori Fukuda, Gillian M. Griffiths, Hans Christian Hennies, Tim Niehues, Sandra Ammann

Front Immunol. 2023; 14: 1151166. Published online 2023 Jun 14. doi: 10.3389/fimmu.2023.1151166

PMCID:: PMC10303925

Abstract Article PDF–24M

Select item 57735294.

Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency

Guilhian Leipnitz, Al-Walid Mohsen, Anuradha Karunanidhi, Bianca Seminotti, Vera Y. Roginskaya, Desiree M. Markantone, Mateus Grings, Stephanie J. Mihalik, Peter Wipf, Bennett Van Houten, Jerry Vockley

Sci Rep. 2018; 8: 1165. Published online 2018 Jan 18. doi: 10.1038/s41598-018-19543-3

PMCID:: PMC5773529

Abstract Article PDF–2.2M

Select item 44249585.

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency

Manuel Schiff, Birgit Haberberger, Chuanwu Xia, Al-Walid Mohsen, Eric S. Goetzman, Yudong Wang, Radha Uppala, Yuxun Zhang, Anuradha Karunanidhi, Dolly Prabhu, Hana Alharbi, Edward V. Prochownik, Tobias Haack, Johannes Häberle, Arnold Munnich, Agnes Rötig, Robert W. Taylor, Robert D. Nicholls, Jung-Ja Kim, Holger Prokisch, Jerry Vockley

Hum Mol Genet. 2015 Jun 1; 24(11): 3238–3247. Published online 2015 Feb 26. doi: 10.1093/hmg/ddv074

PMCID:: PMC4424958

Abstract Article PDF–629K

Select item 30737266.

Identification and Characterization of New Long Chain Acyl-CoA Dehydrogenases

Miao He, Zhengtong Pei, Al-Walid Mohsen, Paul Watkins, Geoffrey Murdoch, Paul P Van Veldhoven, Regina Ensenauer, Jerry Vockley

Mol Genet Metab. Author manuscript; available in PMC 2012 Apr 1.

Published in final edited form as: Mol Genet Metab. 2011 Apr; 102(4): 418–429. Published online 2010 Dec 17. doi: 10.1016/j.ymgme.2010.12.005

PMCID:: PMC3073726

Abstract Article PDF–1.9M

Select item 80207517.

TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase and interact with assembly factors for complex I

Joe Carroll, Jiuya He, Shujing Ding, Ian M. Fearnley, John E. Walker

Proc Natl Acad Sci U S A. 2021 Mar 30; 118(13): e2100558118. Published online 2021 Mar 22. doi: 10.1073/pnas.2100558118

PMCID:: PMC8020751

Abstract Article PDF–1.6M

Select item 65263058.

SIRT3 regulates cancer cell proliferation through deacetylation of PYCR1 in proline metabolism

Shuaiyi Chen, Xin Yang, Miao Yu, Zhe Wang, Boya Liu, Minghui Liu, Lu Liu, Mengmeng Ren, Hao Qi, Junhua Zou, Ivana Vucenik, Wei-Guo Zhu, Jianyuan Luo

Neoplasia. 2019 Jul; 21(7): 665–675. Published online 2019 May 17. doi: 10.1016/j.neo.2019.04.008

PMCID:: PMC6526305

Abstract Article PDF–2.3M

Select item 35238059.

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

Abstract Article PDF–1.7M

Select item 352144910.

GWAS of Dental Caries Patterns in the Permanent Dentition

J.R. Shaffer, E. Feingold, X. Wang, M. Lee, K. TCuenco, D.E. Weeks, R.J. Weyant, R. Crout, D.W. McNeil, M.L. Marazita

J Dent Res. 2013 Jan; 92(1): 38–44. doi: 10.1177/0022034512463579

PMCID:: PMC3521449

Abstract Article PDF–609K

Select item 237498511.

Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns

Karol Szafranski, Stefanie Schindler, Stefan Taudien, Michael Hiller, Klaus Huse, Niels Jahn, Stefan Schreiber, Rolf Backofen, Matthias Platzer

Genome Biol. 2007; 8(8): R154. Published online 2007 Aug 1. doi: 10.1186/gb-2007-8-8-r154

PMCID:: PMC2374985

Abstract Article PDF–369K

Select item 658469112.

CTDP1 regulates breast cancer survival and DNA repair through BRCT-specific interactions with FANCI

Wen-Feng Hu, Kimiko L. Krieger, Dragana Lagundžin, Xueli Li, Ronald S. Cheung, Toshiyasu Taniguchi, Keith R. Johnson, Tadayoshi Bessho, Alvaro N. A. Monteiro, Nicholas T. Woods

Cell Death Discov. 2019; 5: 105. Published online 2019 Jun 19. doi: 10.1038/s41420-019-0185-3

PMCID:: PMC6584691

Abstract Article PDF–1.6M

Select item 402382513.

TIMMDC1/C3orf1 Functions as a Membrane-Embedded Mitochondrial Complex I Assembly Factor through Association with the MCIA Complex

Virginia Guarani, Joao Paulo, Bo Zhai, Edward L. Huttlin, Steven P. Gygi, J. Wade Harper

Mol Cell Biol. 2014 Mar; 34(5): 847–861. doi: 10.1128/MCB.01551-13

PMCID:: PMC4023825

Abstract Article PDF–5.5M

Select item 510494114.

Identification of Novel Nuclear Factor of Activated T Cell (NFAT)-associated Proteins in T Cells

Christian H. Gabriel, Fridolin Gross, Martin Karl, Heike Stephanowitz, Anna Floriane Hennig, Melanie Weber, Stefanie Gryzik, Ivo Bachmann, Katharina Hecklau, Jürgen Wienands, Johannes Schuchhardt, Hanspeter Herzel, Andreas Radbruch, Eberhard Krause, Ria Baumgrass

J Biol Chem. 2016 Nov 11; 291(46): 24172–24187. Published online 2016 Sep 16. doi: 10.1074/jbc.M116.739326

PMCID:: PMC5104941

Abstract Article PDF–3.6M

Select item 662002815.

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

Abstract Article PDF–2.9M

Select item 284527116.

A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome

Ricarda Richter, Joanna Rorbach, Aleksandra Pajak, Paul M Smith, Hans J Wessels, Martijn A Huynen, Jan A Smeitink, Robert N Lightowlers, Zofia M Chrzanowska-Lightowlers

EMBO J. 2010 Mar 17; 29(6): 1116–1125. Published online 2010 Feb 25. doi: 10.1038/emboj.2010.14

PMCID:: PMC2845271

Abstract Article PDF–1.3M

Select item 461025717.

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

Abstract Article PDF–4.5M

Select item 738231318.

MAP4K Interactome Reveals STRN4 as a Key STRIPAK Complex Component in Hippo Pathway Regulation

Gayoung Seo, Han Han, Rebecca Elizabeth Vargas, Bing Yang, Xu Li, Wenqi Wang

Cell Rep. Author manuscript; available in PMC 2020 Jul 25.

Published in final edited form as: Cell Rep. 2020 Jul 7; 32(1): 107860. doi: 10.1016/j.celrep.2020.107860

PMCID:: PMC7382313

Abstract Article PDF–2.6M

Select item 921522719.

SARS-CoV-2 N Protein Antagonizes Stress Granule Assembly and IFN Production by Interacting with G3BPs to Facilitate Viral Replication

Hainan Liu, Yu Bai, Xun Zhang, Ting Gao, Yue Liu, Entao Li, Xuefeng Wang, Zheng Cao, Lin Zhu, Qincai Dong, Yong Hu, Guangfei Wang, Caiwei Song, Xiayang Niu, Tong Zheng, Di Wang, Zijing Liu, Yanwen Jin, Ping Li, Xiuwu Bian, Cheng Cao, Xuan Liu

J Virol. 2022 Jun; 96(12): e00412-22. Published online 2022 Jun 2. doi: 10.1128/jvi.00412-22

PMCID:: PMC9215227

Abstract Article PDF–4.2M

Select item 546865020.

Histone-binding of DPF2 mediates its repressive role in myeloid differentiation

Ferdinand M. Huber, Sarah M. Greenblatt, Andrew M. Davenport, Concepcion Martinez, Ye Xu, Ly P. Vu, Stephen D. Nimer, André Hoelz

Proc Natl Acad Sci U S A. 2017 Jun 6; 114(23): 6016–6021. Published online 2017 May 22. doi: 10.1073/pnas.1700328114

PMCID:: PMC5468650

Abstract Article PDF–1.3M

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