PMC Articles for MedGen (Select 1748867) - PMC

Select item 56301641.

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 420362.

Diminished degradation of yeast cytochrome c by interactions with its physiological partners.

D A Pearce, F Sherman

Proc Natl Acad Sci U S A. 1995 Apr 25; 92(9): 3735–3739. doi: 10.1073/pnas.92.9.3735

PMCID:: PMC42036

Summary Page Browse PDF–1.0M

Select item 1622143.

LRP130, a Pentatricopeptide Motif Protein with a Noncanonical RNA-Binding Domain, Is Bound In Vivo to Mitochondrial and Nuclear RNAs

Stavroula Mili, Serafín Piñol-Roma

Mol Cell Biol. 2003 Jul; 23(14): 4972–4982. doi: 10.1128/MCB.23.14.4972-4982.2003

PMCID:: PMC162214

Abstract Article PDF–590K

Select item 13772994.

A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.

J C von Kleist-Retzow, V Cormier-Daire, P de Lonlay, B Parfait, D Chretien, P Rustin, J Feingold, A Rötig, A Munnich

Am J Hum Genet. 1998 Aug; 63(2): 428–435. doi: 10.1086/301957

PMCID:: PMC1377299

Summary PDF–856K

Select item 42979135.

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 47417576.

p73 regulates basal and starvation-induced liver metabolism in vivo

Zhaoyue He, Massimiliano Agostini, He Liu, Gerry Melino, Hans-Uwe Simon

Oncotarget. 2015 Oct 20; 6(32): 33178–33190. Published online 2015 Sep 7. doi: 10.18632/oncotarget.5090

PMCID:: PMC4741757

Abstract Article PDF–4.1M

Select item 52103747.

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 97416288.

Mitochondrial dysfunction induces ALK5-SMAD2-mediated hypovascularization and arteriovenous malformations in mouse retinas

Haifeng Zhang, Busu Li, Qunhua Huang, Francesc López-Giráldez, Yoshiaki Tanaka, Qun Lin, Sameet Mehta, Guilin Wang, Morven Graham, Xinran Liu, In-Hyun Park, Anne Eichmann, Wang Min, Jenny Huanjiao Zhou

Nat Commun. 2022; 13: 7637. Published online 2022 Dec 10. doi: 10.1038/s41467-022-35262-w

PMCID:: PMC9741628

Abstract Article PDF–16M

Select item 58663819.

Exercise induces TFEB expression and activity in skeletal muscle in a PGC-1α-dependent manner

Avigail T. Erlich, Diane M. Brownlee, Kaitlyn Beyfuss, David A. Hood

Am J Physiol Cell Physiol. 2018 Jan 1; 314(1): C62–C72. Published online 2017 Oct 18. doi: 10.1152/ajpcell.00162.2017

PMCID:: PMC5866381

Abstract Article

Select item 746968310.

SQSTM1/p62 and PPARGC1A/PGC-1alpha at the interface of autophagy and vascular senescence

Gloria Salazar, Abigail Cullen, Jingwen Huang, Yitong Zhao, Alexa Serino, Lula Hilenski, Nikolay Patrushev, Farshad Forouzandeh, Hyun Seok Hwang

Autophagy. 2020; 16(6): 1092–1110. Published online 2019 Aug 28. doi: 10.1080/15548627.2019.1659612

PMCID:: PMC7469683

Abstract Article PDF–10M

Select item 751764611.

Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient

Ettore Piro, Gregorio Serra, Vincenzo Antona, Mario Giuffrè, Elisa Giorgio, Fabio Sirchia, Ingrid Anne Mandy Schierz, Alfredo Brusco, Giovanni Corsello

Ital J Pediatr. 2020; 46: 140. Published online 2020 Sep 24. doi: 10.1186/s13052-020-00903-7

PMCID:: PMC7517646

Abstract Article PDF–2.2M

Select item 789871512.

A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction

Liesbeth T. M. Wintjes, Maina Kava, Frans A. van den Brandt, Mariël A. M. van den Brand, Oksana Lapina, Yngve T. Bliksrud, Mari A. Kulseth, Silja S. Amundsen, Terje R. Selberg, Marion Ybema‐Antoine, Omar A. Z. Tutakhel, Lawrence Greed, David R. Thorburn, Trine Tangeraas, Shanti Balasubramaniam, Richard J. T. Rodenburg

Hum Mutat. 2021 Feb; 42(2): 135–141. Published online 2020 Nov 30. doi: 10.1002/humu.24137

PMCID:: PMC7898715

Abstract Article PDF–1.3M

Select item 915707913.

Pentatricopeptide repeat protein CNS1 regulates maize mitochondrial complex III assembly and seed development

Shuai Ma, Wenzhu Yang, Xiaoqing Liu, Suzhen Li, Ye Li, Jiameng Zhu, Chunyi Zhang, Xiaoduo Lu, Xiaojin Zhou, Rumei Chen

Plant Physiol. 2022 Jun; 189(2): 611–627. Published online 2022 Feb 26. doi: 10.1093/plphys/kiac086

PMCID:: PMC9157079

Abstract Article PDF–1.9M

Select item 954296014.

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 627576215.

The transcriptional cascade associated with creatine kinase down-regulation and mitochondrial biogenesis in mice sarcoma

Soumen Bera, Manju Ray

Cell Mol Biol Lett. 2009 Sep; 14(3): 481–496. Published online 2009 Apr 2. doi: 10.2478/s11658-009-0014-4

PMCID:: PMC6275762

Summary PDF–2.6M

Select item 338117816.

Mitochondrial DNA Variant for Complex I Reveals a Role in Diabetic Cardiac Remodeling

Savitha Sethumadhavan, Jeannette Vasquez-Vivar, Raymond Q. Migrino, Leanne Harmann, Howard J. Jacob, Jozef Lazar

J Biol Chem. 2012 Jun 22; 287(26): 22174–22182. Published online 2012 Apr 27. doi: 10.1074/jbc.M111.327866

PMCID:: PMC3381178

Abstract Article PDF–1008K

Select item 326035217.

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

Abstract Article PDF–476K

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