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Select item 83595391.

Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations

M.A. Shahrour, O. Staretz-Chacham, D. Dayan, J. Stephen, A. Weech, N. Damseh, H. Pri Chen, S. Edvardson, S. Mazaheri, A. Saada, NISC Intramural Sequencing, E. Hershkovitz, A. Shaag, M. Huizing, B. Abu-Libdeh, W.A Gahl, A. Azem, Y. Anikster, T. Vilboux, O. Elpeleg, M.C. Malicdan

Clin Genet. Author manuscript; available in PMC 2021 Aug 12.

Published in final edited form as: Clin Genet. 2017 May; 91(5): 690–696. Published online 2016 Oct 12. doi: 10.1111/cge.12855

PMCID:: PMC8359539

Article PDF–398K

Select item 17356742.

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

L De Meirleir, S Seneca, W Lissens, I De Clercq, F Eyskens, E Gerlo, J Smet, R Van Coster

J Med Genet. 2004 Feb; 41(2): 120–124. doi: 10.1136/jmg.2003.012047

PMCID:: PMC1735674

Summary PDF–596K

Select item 105156093.

TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation

Orna Staretz-Chacham, Ohad Wormser, Esther Manor, Ohad S. Birk, Carlos R. Ferreira

Am J Med Genet A. Author manuscript; available in PMC 2023 Sep 22.

Published in final edited form as: Am J Med Genet A. 2019 Jul; 179(7): 1293–1298. Published online 2019 Apr 4. doi: 10.1002/ajmg.a.61138

PMCID:: PMC10515609

Article PDF–585K

Select item 88344194.

Clinical Heterogeneity in MT-ATP6 Pathogenic Variants: Same Genotype—Different Onset

Sara Capiau, Joél Smet, Boel De Paepe, Yilmaz Yildiz, Mutluay Arslan, Olivier Stevens, Maxime Verschoore, Hedwig Stepman, Sara Seneca, Arnaud Vanlander

Cells. 2022 Feb; 11(3): 489. Published online 2022 Jan 30. doi: 10.3390/cells11030489

PMCID:: PMC8834419

Article PDF–3.1M

Select item 85608635.

A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency

Matthew A. Lines, Alexanne Cuillerier, Pranesh Chakraborty, Turaya Naas, M. Laura Duque Lasio, Jean Michaud, Chantal Pileggi, Mary-Ellen Harper, Yan Burelle, Tomi L. Toler, Neal Sondheimer, Heather P. Crawford, Francisca Millan, Michael T. Geraghty

Eur J Hum Genet. 2021 Nov; 29(11): 1719–1724. Published online 2021 Sep 6. doi: 10.1038/s41431-021-00956-0

PMCID:: PMC8560863

Article PDF–1.6M

Select item 32786116.

Mitochondrial ATP synthase: architecture, function and pathology

An I. Jonckheere, Jan A. M. Smeitink, Richard J. T. Rodenburg

J Inherit Metab Dis. 2012; 35(2): 211–225. Published online 2011 Aug 27. doi: 10.1007/s10545-011-9382-9

PMCID:: PMC3278611

Article PDF–416K

Select item 89155907.

Solubility of proteins

Mauno Vihinen

ADMET DMPK. 2020; 8(4): 391–399. Published online 2020 Jun 28. doi: 10.5599/admet.831

PMCID:: PMC8915590

Article PDF–578K

Select item 80022668.

Epigallocatechin-3-Gallate Plus Omega-3 Restores the Mitochondrial Complex I and F₀F₁-ATP Synthase Activities in PBMCs of Young Children with Down Syndrome: A Pilot Study of Safety and Efficacy

Iris Scala, Daniela Valenti, Valentina Scotto D’Aniello, Maria Marino, Maria Pia Riccio, Carmela Bravaccio, Rosa Anna Vacca, Pietro Strisciuglio

Antioxidants (Basel) 2021 Mar; 10(3): 469. Published online 2021 Mar 16. doi: 10.3390/antiox10030469

PMCID:: PMC8002266

Article PDF–2.6M

Select item 64061689.

Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report

Keiichi Hirono, Fukiko Ichida, Natsuhito Nishio, Minako Ogawa‐Tominaga, Takuya Fushimi, Rene′ G. Feichtinger, Johannes A. Mayr, Masakazu Kohda, Yoshihito Kishita, Yasushi Okazaki, Akira Ohtake, Kei Murayama

Clin Case Rep. 2019 Mar; 7(3): 553–557. Published online 2019 Feb 7. doi: 10.1002/ccr3.2050

PMCID:: PMC6406168

Article PDF–325K

Select item 559410210.

AtOMA1 Affects the OXPHOS System and Plant Growth in Contrast to Other Newly Identified ATP-Independent Proteases in Arabidopsis Mitochondria

Iwona Migdal, Renata Skibior-Blaszczyk, Malgorzata Heidorn-Czarna, Marta Kolodziejczak, Arnold Garbiec, Hanna Janska

Front Plant Sci. 2017; 8: 1543. Published online 2017 Sep 7. doi: 10.3389/fpls.2017.01543

PMCID:: PMC5594102

Article PDF–3.6M

Select item 495862211.

Mitochondrial Cardiomyopathies

Ayman W. El-Hattab, Fernando Scaglia

Front Cardiovasc Med. 2016; 3: 25. Published online 2016 Jul 25. doi: 10.3389/fcvm.2016.00025

PMCID:: PMC4958622

Article PDF–323K

Select item 1092421712.

A Drosophila model of mitochondrial disease phenotypic heterogeneity

Lucy Granat, Debbra Y. Knorr, Daniel C. Ranson, Ram Prosad Chakrabarty, Navdeep S. Chandel, Joseph M. Bateman

Biol Open. 2024 Feb 15; 13(2): bio060278. Published online 2024 Feb 28. doi: 10.1242/bio.060278

PMCID:: PMC10924217

Article PDF–5.3M

Select item 1041511613.

Mitochondrial haplotype mutation alleviates respiratory defect of MELAS by restoring taurine modification in tRNA with 3243A > G mutation

Saori Ueda, Mikako Yagi, Ena Tomoda, Shinya Matsumoto, Yasushi Ueyanagi, Yura Do, Daiki Setoyama, Yuichi Matsushima, Asuteka Nagao, Tsutomu Suzuki, Tomomi Ide, Yusuke Mori, Noriko Oyama, Dongchon Kang, Takeshi Uchiumi

Nucleic Acids Res. 2023 Aug 11; 51(14): 7480–7495. Published online 2023 Jul 13. doi: 10.1093/nar/gkad591

PMCID:: PMC10415116

Article PDF–2.0M

Select item 1031676714.

Variants in ATP5F1B are associated with dominantly inherited dystonia

Alessia Nasca, Niccolò E Mencacci, Federica Invernizzi, Michael Zech, Ignacio J Keller Sarmiento, Andrea Legati, Chiara Frascarelli, Bernabe I Bustos, Luigi M Romito, Dimitri Krainc, Juliane Winkelmann, Miryam Carecchio, Nardo Nardocci, Giovanna Zorzi, Holger Prokisch, Steven J Lubbe, Barbara Garavaglia, Daniele Ghezzi

Brain. 2023 Jul; 146(7): 2730–2738. Published online 2023 Mar 1. doi: 10.1093/brain/awad068

PMCID:: PMC10316767

Article PDF–986K

Select item 1016797215.

Nox4 knockout does not prevent diaphragm atrophy, contractile dysfunction, or mitochondrial maladaptation in the early phase post-myocardial infarction in mice

Dongwoo Hahn, Ravi A. Kumar, Derek R. Muscato, Terence E. Ryan, Katrin Schröder, Leonardo F. Ferreira

Cell Physiol Biochem. Author manuscript; available in PMC 2023 May 9.

Published in final edited form as: Cell Physiol Biochem. 2021 Aug 20; 55(4): 489–504. doi: 10.33594/000000400

PMCID:: PMC10167972

Article PDF–1.4M

Select item 1012400916.

Clinical and genetic characteristics of children with COX20-associated mitochondrial disorder: case report and literature review

Liqing Chen, Yan Liu

BMC Med Genomics. 2023; 16: 86. Published online 2023 Apr 24. doi: 10.1186/s12920-023-01513-y

PMCID:: PMC10124009

Article PDF–2.4M

Select item 971479317.

Dichloroacetate and thiamine improve survival and mitochondrial stress in a C. elegans model of dihydrolipoamide dehydrogenase deficiency

Chynna N. Broxton, Prabhjot Kaur, Manuela Lavorato, Smruthi Ganesh, Rui Xiao, Neal D. Mathew, Eiko Nakamaru-Ogiso, Vernon E. Anderson, Marni J. Falk

JCI Insight. 2022 Oct 24; 7(20): e156222. Published online 2022 Oct 24. doi: 10.1172/jci.insight.156222

PMCID:: PMC9714793

Article PDF–914K

Select item 959492518.

Early embryonic lethality in complex I associated p.L104PNubpl mutant mice

Cheng Cheng, James Cleak, Lan Weiss, Heather Cater, Michelle Stewart, Sara Wells, Rod Carlo Columbres, Alyaa Shmara, C. Alejandra Morato Torres, Faria Zafar, Birgitt Schüle, Jonathan Neumann, Eli Hatchwell, Virginia Kimonis

Orphanet J Rare Dis. 2022; 17: 386. Published online 2022 Oct 24. doi: 10.1186/s13023-022-02446-y

PMCID:: PMC9594925

Article PDF–4.2M

Select item 945842719.

A deafness-associated mitochondrial DNA mutation caused pleiotropic effects on DNA replication and tRNA metabolism

Feilong Meng, Zidong Jia, Jing Zheng, Yanchun Ji, Jing Wang, Yun Xiao, Yong Fu, Meng Wang, Feng Ling, Min-Xin Guan

Nucleic Acids Res. 2022 Sep 9; 50(16): 9453–9469. Published online 2022 Aug 30. doi: 10.1093/nar/gkac720

PMCID:: PMC9458427

Article PDF–8.8M

Select item 936053420.

Noninvasive Ophthalmic Imaging Measures Retinal Degeneration and Vision Deficits in Ndufs4^−/− Mouse Model of Mitochondrial Complex I Deficiency

Maria I. Avrutsky, Jacqueline M. Lawson, Jade E. Smart, Claire W. Chen, Carol M. Troy

Transl Vis Sci Technol. 2022 Aug; 11(8): 5. Published online 2022 Aug 3. doi: 10.1167/tvst.11.8.5

PMCID:: PMC9360534

Article PDF–8.2M

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