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Select item 104446291.

CLINICAL AND GENETIC ANALYSIS OF LIPID STORAGE MYOPATHIES

AYA OHKUMA, SATORU NOGUCHI, HIDEO SUGIE, MAY CHRISTINE V. MALICDAN, TOKIKO FUKUDA, KUNIO SHIMAZU, LUIS CARLOS LÓPEZ, MICHIO HIRANO, YUKIKO K. HAYASHI, IKUYA NONAKA, ICHIZO NISHINO

Muscle Nerve. Author manuscript; available in PMC 2023 Aug 23.

Published in final edited form as: Muscle Nerve. 2009 Mar; 39(3): 333–342. doi: 10.1002/mus.21167

PMCID:: PMC10444629

Abstract Article PDF–2.2M

Select item 104095232.

ETFDH mutations, CoQ₁₀ levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

Wen-Chen Liang, Aya Ohkuma, Yukiko K. Hayashi, Luis Carlos López, Michio Hirano, Ikuya Nonaka, Satoru Noguchi, Liang-Hui Chen, Yuh-Jyh Jong, Ichizo Nishino

Neuromuscul Disord. Author manuscript; available in PMC 2023 Aug 8.

Published in final edited form as: Neuromuscul Disord. 2009 Mar; 19(3): 212–216. Published online 2009 Feb 26. doi: 10.1016/j.nmd.2009.01.008

PMCID:: PMC10409523

Abstract Article PDF–554K

Select item 102374223.

TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing

Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan

Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233

PMCID:: PMC10237422

Abstract Article PDF–23M

Select item 87144814.

浙江省新生儿多酰基辅酶 A脱氢酶缺乏症筛查及随访分析

Duo ZHOU, Meiling YE, Zhenzhen HU, Yu ZHANG, Lin ZHU, Rulai YANG, Xinwen HUANG

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2021 Aug; 50(4): 454–462. Chinese. doi: 10.3724/zdxbyxb-2021-0261

PMCID:: PMC8714481

Abstract Article PDF–2.2M

Select item 85931495.

Multiple acyl-CoA dehydrogenase deficiency kills Mycobacterium tuberculosis in vitro and during infection

Tiago Beites, Robert S. Jansen, Ruojun Wang, Adrian Jinich, Kyu Y. Rhee, Dirk Schnappinger, Sabine Ehrt

Nat Commun. 2021; 12: 6593. Published online 2021 Nov 15. doi: 10.1038/s41467-021-26941-1

PMCID:: PMC8593149

Abstract Article PDF–2.6M

Select item 85432986.

Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2

Changrui Xiao, Esteban Astiazaran-Symonds, Shrabani Basu, Monisha Kisling, Fernando Scaglia, Kimberly A. Chapman, Yudong Wang, Jerry Vockley, Carlos R. Ferreira

Am J Med Genet A. Author manuscript; available in PMC 2021 Oct 25.

Published in final edited form as: Am J Med Genet A. 2020 Oct; 182(10): 2426–2431. Published online 2020 Aug 17. doi: 10.1002/ajmg.a.61786

PMCID:: PMC8543298

Abstract Article PDF–724K

Select item 81650307.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 75335168.

Clinical characteristics and gene mutation analysis of an adult patient with ETFDH-related multiple acyl-CoA dehydrogenase deficiency

Chenyi Wang, Haihong Lv, Xia Xu, Yuping Ma, Qian Li

Mol Med Rep. 2020 Nov; 22(5): 4396–4402. Published online 2020 Sep 18. doi: 10.3892/mmr.2020.11524

PMCID:: PMC7533516

Abstract Article PDF–441K

Select item 72125889.

A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family

Mingcai Ou, Lin Zhu, Yong Zhang, Yaguo Zhang, Jingyao Zhou, Yu Zhang, Xuelian Chen, Lijuan Yang, Ting Li, Xingyue Su, Qi Hu, Wenjun Wang

BMC Med Genet. 2020; 21: 98. Published online 2020 May 11. doi: 10.1186/s12881-020-00995-2

PMCID:: PMC7212588

Abstract Article PDF–755K

Select item 716998310.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x

PMCID:: PMC7169983

Abstract Article PDF–5.4M

Select item 692158611.

Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations

Wei Chen, Youqiao Zhang, Yifeng Ni, Shaoyu Cai, Xin Zheng, Frank L. Mastaglia, Jingshan Wu

BMC Neurol. 2019; 19: 330. Published online 2019 Dec 18. doi: 10.1186/s12883-019-1562-5

PMCID:: PMC6921586

Abstract Article PDF–916K

Select item 683185112.

Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis

Mohamed Taha Moutaoufik, Ramy Malty, Shahreen Amin, Qingzhou Zhang, Sadhna Phanse, Alla Gagarinova, Mara Zilocchi, Larissa Hoell, Zoran Minic, Maria Gagarinova, Hiroyuki Aoki, Jocelyn Stockwell, Matthew Jessulat, Florian Goebels, Kirsten Broderick, Nichollas E. Scott, James Vlasblom, Gabriel Musso, Bhanu Prasad, Eleonora Lamantea, Barbara Garavaglia, Alex Rajput, Kei Murayama, Yasushi Okazaki, Leonard J. Foster, Gary D. Bader, Francisco S. Cayabyab, Mohan Babu

iScience. 2019 Sep 27; 19: 1114–1132. Published online 2019 Sep 4. doi: 10.1016/j.isci.2019.08.057

PMCID:: PMC6831851

Abstract Article PDF–9.8M

Select item 623456013.

Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

Sara Missaglia, Daniela Tavian, Laura Moro, Corrado Angelini

Lipids Health Dis. 2018; 17: 254. Published online 2018 Nov 13. doi: 10.1186/s12944-018-0903-5

PMCID:: PMC6234560

Abstract Article PDF–2.3M

Select item 605639714.

Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases

Yoo Jinie Kim, Jung Min Ko, Junghan Song, Kyung-A Lee

Ann Lab Med. 2018 Nov; 38(6): 616–618. Published online 2018 Jul 18. doi: 10.3343/alm.2018.38.6.616

PMCID:: PMC6056397

Article PDF–663K

Select item 499245615.

Mitochondrial protein interaction mapping identifies new regulators of respiratory chain function

Brendan J. Floyd, Emily M. Wilkerson, Mike T. Veling, Catie E. Minogue, Chuanwu Xia, Emily T. Beebe, Russell L. Wrobel, Holly Cho, Laura S. Kremer, Charlotte L. Alston, Katarzyna A. Gromek, Brendan K. Dolan, Arne Ulbrich, Jonathan A. Stefely, Sarah L. Bohl, Kelly M. Werner, Adam Jochem, Michael S. Westphall, Jarred W. Rensvold, Robert W. Taylor, Holger Prokisch, Jung-Ja P. Kim, Joshua J. Coon, David J. Pagliarini

Mol Cell. Author manuscript; available in PMC 2017 Aug 18.

Published in final edited form as: Mol Cell. 2016 Aug 18; 63(4): 621–632. Published online 2016 Aug 4. doi: 10.1016/j.molcel.2016.06.033

PMCID:: PMC4992456

Abstract Article PDF–1.7M

Select item 434510316.

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

Klaus Gempel, Haluk Topaloglu, Beril Talim, Peter Schneiderat, Benedikt G. H. Schoser, Volkmar H. Hans, Beatrix Pálmafy, Gulsev Kale, Aysegul Tokatli, Catarina Quinzii, Michio Hirano, Ali Naini, Salvatore DiMauro, Holger Prokisch, Hanns Lochmüller, Rita Horvath

Brain. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: Brain. 2007 Aug; 130(0 8): 2037–2044. Published online 2007 Apr 5. doi: 10.1093/brain/awm054

PMCID:: PMC4345103

Abstract Article PDF–783K

Select item 406425417.

An atlas of genetic influences on human blood metabolites

So-Youn Shin, Eric B. Fauman, Ann-Kristin Petersen, Jan Krumsiek, Rita Santos, Jie Huang, Matthias Arnold, Idil Erte, Vincenzo Forgetta, Tsun-Po Yang, Klaudia Walter, Cristina Menni, Lu Chen, Louella Vasquez, Ana M. Valdes, Craig L. Hyde, Vicky Wang, Daniel Ziemek, Phoebe Roberts, Li Xi, Elin Grundberg, The Multiple Tissue Human Expression Resource (MuTHER) Consortium, Melanie Waldenberger, J. Brent Richards, Robert P. Mohney, Michael V. Milburn, Sally L. John, Jeff Trimmer, Fabian J. Theis, John P. Overington, Karsten Suhre, M. Julia Brosnan, Christian Gieger, Gabi Kastenmüller, Tim D Spector, Nicole Soranzo

Nat Genet. Author manuscript; available in PMC 2014 Dec 1.

Published in final edited form as: Nat Genet. 2014 Jun; 46(6): 543–550. Published online 2014 May 11. doi: 10.1038/ng.2982

PMCID:: PMC4064254

Abstract Article PDF–2.4M

Select item 397010918.

Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle

Lynne A. Wolfe, Miao He, Jerry Vockley, Nicole Payne, William Rhead, Charles Hoppel, Elaine Spector, Kim Gernert, K. Michael Gibson

J Inherit Metab Dis. Author manuscript; available in PMC 2014 Mar 31.

Published in final edited form as: J Inherit Metab Dis. 2010 Dec; 33(0 3): S481–S487. Published online 2010 Nov 19. doi: 10.1007/s10545-010-9246-8

PMCID:: PMC3970109

Abstract Article PDF–836K

Select item 383283819.

Human metabolic individuality in biomedical and pharmaceutical research

Karsten Suhre, So-Youn Shin, Ann-Kristin Petersen, Robert P. Mohney, David Meredith, Brigitte Wägele, Elisabeth Altmaier, CARDIoGRAM, Panos Deloukas, Jeanette Erdmann, Elin Grundberg, Christopher J. Hammond, Martin Hrabé de Angelis, Gabi Kastenmüller, Anna Köttgen, Florian Kronenberg, Massimo Mangino, Christa Meisinger, Thomas Meitinger, Hans-Werner Mewes, Michael V. Milburn, Cornelia Prehn, Johannes Raffler, Janina S. Ried, Werner Römisch-Margl, Nilesh J. Samani, Kerrin S. Small, H.-Erich Wichmann, Guangju Zhai, Thomas Illig, Tim D. Spector, Jerzy Adamski, Nicole Soranzo, Christian Gieger

Nature. Author manuscript; available in PMC 2013 Nov 19.

Published in final edited form as: Nature. 2011 Aug 31; 477(7362): 10.1038/nature10354. Published online 2011 Aug 31. doi: 10.1038/nature10354

PMCID:: PMC3832838

Abstract Article PDF–839K

Select item 377390420.

A genomewide perspective of genetic variation in human metabolism

Thomas Illig, Christian Gieger, Guangju Zhai, Werner Römisch-Margl, Rui Wang-Sattler, Cornelia Prehn, Elisabeth Altmaier, Gabi Kastenmüller, Bernet S. Kato, Hans-Werner Mewes, Thomas Meitinger, Martin Hrabé de Angelis, Florian Kronenberg, Nicole Soranzo, H.-Erich Wichmann, Tim D. Spector, Jerzy Adamski, Karsten Suhre

Nat Genet. Author manuscript; available in PMC 2013 Sep 16.

Published in final edited form as: Nat Genet. 2010 Feb; 42(2): 137–141. Published online 2009 Dec 27. doi: 10.1038/ng.507

PMCID:: PMC3773904

Abstract Article PDF–482K

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