PMC Articles for MedGen (Select 1782861) - PMC

Select item 113401121.

IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency

Qiyu Dong, Xiaojie Yin, Shuanglong Fan, Sheng Zhong, Wenxin Yang, Keer Chen, Qian Wang, Xue Ma, Refiloe Laurentinah Mahlatsi, Yanling Yang, Jianxin Lyu, Hezhi Fang, Ya Wang

Orphanet J Rare Dis. 2024; 19: 305. Published online 2024 Aug 21. doi: 10.1186/s13023-024-03310-x

PMCID:: PMC11340112

Abstract Article PDF–4.7M

Select item 108885872.

Aldehyde Dehydrogenase 2 (ALDH2) Deficiency, Obesity, and Atrial Fibrillation Susceptibility: Unraveling the Connection

Lung-An Hsu, Yung-Hsin Yeh, Chi-Jen Chang, Wei-Jan Chen, Hsin-Yi Tsai, Gwo-Jyh Chang

Int J Mol Sci. 2024 Feb; 25(4): 2186. Published online 2024 Feb 11. doi: 10.3390/ijms25042186

PMCID:: PMC10888587

Abstract Article PDF–1.8M

Select item 95429603.

Autophagy deficiency abolishes liver mitochondrial DNA segregation

Katiane Tostes, Angélica C. dos Santos, Lindomar O. Alves, Luiz R. G. Bechara, Rachel Marascalchi, Carolina H. Macabelli, Mateus P. Grejo, William T. Festuccia, Roberta A. Gottlieb, Julio C. B. Ferreira, Marcos R. Chiaratti

Autophagy. 2022; 18(10): 2397–2408. Published online 2022 Feb 27. doi: 10.1080/15548627.2022.2038501

PMCID:: PMC9542960

Abstract Article PDF–2.1M

Select item 92954714.

Sperm flagellar 2 (SPEF2) is essential for sperm flagellar assembly in humans

Dong-Yan Li, Xiao-Xuan Yang, Chao-Feng Tu, Wei-Li Wang, Lan-Lan Meng, Guang-Xiu Lu, Yue-Qiu Tan, Qian-Jun Zhang, Juan Du

Asian J Androl. 2022 Jul-Aug; 24(4): 359–366. Published online 2021 Nov 5. doi: 10.4103/aja202154

PMCID:: PMC9295471

Abstract Article PDF–2.3M

Select item 88143885.

NFE2L1-mediated proteasome function protects from ferroptosis

Stefan Kotschi, Anna Jung, Nienke Willemsen, Anahita Ofoghi, Bettina Proneth, Marcus Conrad, Alexander Bartelt

Mol Metab. 2022 Mar; 57: 101436. Published online 2022 Jan 6. doi: 10.1016/j.molmet.2022.101436

PMCID:: PMC8814388

Abstract Article PDF–2.1M

Select item 79888086.

Nrf2 mediates hypoxia-inducible HIF1α activation in kidney tubular epithelial cells

Haranatha R. Potteti, Patrick M. Noone, Chandramohan R. Tamatam, Aparna Ankireddy, Sanjeev Noel, Hamid Rabb, Sekhar P. Reddy

Am J Physiol Renal Physiol. 2021 Mar 1; 320(3): F464–F474. Published online 2021 Jan 25. doi: 10.1152/ajprenal.00501.2020

PMCID:: PMC7988808

Abstract Article

Select item 79712357.

EMP32 is required for the cis-splicing of nad7 intron 2 and seed development in maize

Yan-Zhuo Yang, Shuo Ding, Xin-Yuan Liu, Jiao-Jiao Tang, Yong Wang, Feng Sun, Chunhui Xu, Bao-Cai Tan

RNA Biol. 2021; 18(4): 499–509. Published online 2020 Sep 16. doi: 10.1080/15476286.2020.1817267

PMCID:: PMC7971235

Abstract Article PDF–8.2M

Select item 58862888.

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

Caterina Garone, Aaron R D’Souza, Cristina Dallabona, Tiziana Lodi, Pedro Rebelo-Guiomar, Joanna Rorbach, Maria Alice Donati, Elena Procopio, Martino Montomoli, Renzo Guerrini, Massimo Zeviani, Sarah E Calvo, Vamsi K Mootha, Salvatore DiMauro, Ileana Ferrero, Michal Minczuk

Hum Mol Genet. 2017 Nov 1; 26(21): 4257–4266. Published online 2017 Aug 25. doi: 10.1093/hmg/ddx314

PMCID:: PMC5886288

Abstract Article PDF–1.0M

Select item 56301649.

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

René G. Feichtinger, Monika Oláhová, Yoshihito Kishita, Caterina Garone, Laura S. Kremer, Mikako Yagi, Takeshi Uchiumi, Alexis A. Jourdain, Kyle Thompson, Aaron R. D’Souza, Robert Kopajtich, Charlotte L. Alston, Johannes Koch, Wolfgang Sperl, Elisa Mastantuono, Tim M. Strom, Saskia B. Wortmann, Thomas Meitinger, Germaine Pierre, Patrick F. Chinnery, Zofia M. Chrzanowska-Lightowlers, Robert N. Lightowlers, Salvatore DiMauro, Sarah E. Calvo, Vamsi K. Mootha, Maurizio Moggio, Monica Sciacco, Giacomo P. Comi, Dario Ronchi, Kei Murayama, Akira Ohtake, Pedro Rebelo-Guiomar, Masakazu Kohda, Dongchon Kang, Johannes A. Mayr, Robert W. Taylor, Yasushi Okazaki, Michal Minczuk, Holger Prokisch

Am J Hum Genet. 2017 Oct 5; 101(4): 525–538. Published online 2017 Sep 21. doi: 10.1016/j.ajhg.2017.08.015

PMCID:: PMC5630164

Abstract Article PDF–1.7M

Select item 521037410.

Nrf2 deficiency does not affect denervation‐induced alterations in mitochondrial fission and fusion proteins in skeletal muscle

Yu Kitaoka, Kohei Takeda, Yuki Tamura, Shin Fujimaki, Tohru Takemasa, Hideo Hatta

Physiol Rep. 2016 Dec; 4(24): e13064. Published online 2016 Dec 30. doi: 10.14814/phy2.13064

PMCID:: PMC5210374

Abstract Article PDF–1.5M

Select item 468803711.

Effects of Local Heart Irradiation in a Glutathione S-Transferase Alpha 4-Null Mouse Model

Marjan Boerma, Preeti Singh, Vijayalakshmi Sridharan, Preeti Tripathi, Sunil Sharma, Sharda P. Singh

Radiat Res. Author manuscript; available in PMC 2015 Dec 22.

Published in final edited form as: Radiat Res. 2015 Jun; 183(6): 610–619. Published online 2015 May 26. doi: 10.1667/RR13979.1

PMCID:: PMC4688037

Abstract Article PDF–532K

Select item 443341212.

Carney Triad, SDH-deficient tumors, and Sdhb^+/− mice share abnormal mitochondria

Eva Szarek, Evan R. Ball, Alessio Imperiale, Maria Tsokos, Fabio R. Faucz, Alessio Giubellino, François-Marie Moussallieh, Izzie-Jacques Namer, Mones S. Abu-Asab, Karel Pacak, David Taïeb, J. Aidan Carney, Constantine A. Stratakis

Endocr Relat Cancer. Author manuscript; available in PMC 2015 Dec 1.

Published in final edited form as: Endocr Relat Cancer. 2015 Jun; 22(3): 345–352. Published online 2015 Mar 25. doi: 10.1530/ERC-15-0069

PMCID:: PMC4433412

Abstract Article PDF–945K

Select item 429791313.

Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy

Ulla Najwa Abdulhag, Devorah Soiferman, Ora Schueler-Furman, Chaya Miller, Avraham Shaag, Orly Elpeleg, Simon Edvardson, Ann Saada

Eur J Hum Genet. 2015 Feb; 23(2): 159–164. Published online 2014 Apr 30. doi: 10.1038/ejhg.2014.85

PMCID:: PMC4297913

Abstract Article PDF–914K

Select item 318037714.

A Toll-Like Receptor 2 Pathway Regulates the Ppargc1a/b Metabolic Co-Activators in Mice with Staphylococcal aureus Sepsis

Timothy E. Sweeney, Hagir B. Suliman, John W. Hollingsworth, Karen E. Welty-Wolf, Claude A. Piantadosi

PLoS One. 2011; 6(9): e25249. Published online 2011 Sep 26. doi: 10.1371/journal.pone.0025249

PMCID:: PMC3180377

Abstract Article PDF–3.1M

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