PMC Articles for MedGen (Select 1648346) - PMC

Select item 95429601.

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

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Select item 84965412.

TXNIP/VDUP1 attenuates steatohepatitis via autophagy and fatty acid oxidation

Hee-Seon Park, Ji-Won Song, Jin-Ho Park, Byung-Kwan Lim, Og-Sung Moon, Hwa-Young Son, Jae-Hyuk Lee, Bin Gao, Young-Suk Won, Hyo-Jung Kwon

Autophagy. 2021; 17(9): 2549–2564. Published online 2020 Nov 16. doi: 10.1080/15548627.2020.1834711

PMCID:: PMC8496541

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Select item 82080433.

Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant

Tonya Moss, Melanie May, Heather Flanagan-Steet, Raymond Caylor, Yong-Hui Jiang, Marie McDonald, Michael Friez, Allyn McConkie-Rosell, Richard Steet

Cold Spring Harb Mol Case Stud. 2021 Jun; 7(3): a006081. doi: 10.1101/mcs.a006081

PMCID:: PMC8208043

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Select item 79888084.

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

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Select item 59997355.

Rotenone Treatment Reveals a Role for Electron Transport Complex I in the Subcellular Localization of Key Transcriptional Regulators During T Helper Cell Differentiation

Emrah Ilker Ozay, Heather L. Sherman, Victoria Mello, Grace Trombley, Adam Lerman, Gregory N. Tew, Nagendra Yadava, Lisa M. Minter

Front Immunol. 2018; 9: 1284. Published online 2018 Jun 7. doi: 10.3389/fimmu.2018.01284

PMCID:: PMC5999735

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Select item 56301646.

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

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Select item 46507357.

Seipin deficiency increases chromocenter fragmentation and disrupts acrosome formation leading to male infertility

A E El Zowalaty, C Baumann, R Li, W Chen, R De La Fuente, X Ye

Cell Death Dis. 2015 Jul; 6(7): e1817. Published online 2015 Jul 16. doi: 10.1038/cddis.2015.188

PMCID:: PMC4650735

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Select item 44334128.

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

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Select item 38424569.

Aberrant Rab11-Dependent Trafficking of the Neuronal Glutamate Transporter EAAC1 Causes Oxidative Stress and Cell Death in Huntington's Disease

Xueyi Li, Antonio Valencia, Ellen Sapp, Nicholas Masso, Jonathan Alexander, Patrick Reeves, Kimberly B. Kegel, Neil Aronin, Marian DiFiglia

J Neurosci. 2010 Mar 31; 30(13): 4552–4561. doi: 10.1523/JNEUROSCI.5865-09.2010

PMCID:: PMC3842456

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Select item 333992710.

Tyrosyl-DNA Phosphodiesterase 1 (TDP1) Repairs DNA Damage Induced by Topoisomerases I and II and Base Alkylation in Vertebrate Cells

Junko Murai, Shar-yin N. Huang, Benu Brata Das, Thomas S. Dexheimer, Shunichi Takeda, Yves Pommier

J Biol Chem. 2012 Apr 13; 287(16): 12848–12857. Published online 2012 Feb 27. doi: 10.1074/jbc.M111.333963

PMCID:: PMC3339927

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Select item 326035211.

Expression of oxidative phosphorylation components in mitochondria of long-living Ames dwarf mice

Holly M. Brown-Borg, W. Thomas Johnson, Sharlene G. Rakoczy

Age (Dordr) 2012 Feb; 34(1): 43–57. Published online 2011 Feb 16. doi: 10.1007/s11357-011-9212-x

PMCID:: PMC3260352

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Select item 325214812.

A Deficiency in the Flavoprotein of Arabidopsis Mitochondrial Complex II Results in Elevated Photosynthesis and Better Growth in Nitrogen-Limiting Conditions

Daniela Fuentes, Marco Meneses, Adriano Nunes-Nesi, Wagner L. Araújo, Rodrigo Tapia, Isabel Gómez, Loreto Holuigue, Rodrigo A. Gutiérrez, Alisdair R. Fernie, Xavier Jordana

Plant Physiol. 2011 Nov; 157(3): 1114–1127. Published online 2011 Sep 15. doi: 10.1104/pp.111.183939