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- high-resolution terminology - matching measurements at high-resolution
Mitochondrial disease
Description
Mitochondrial diseases are a large group of heterogeneous metabolic disorders characterized by defects affecting the function of the mitochondria. Mitochondrial disorders are the most common group of inherited metabolic diseases and their main challenge is their clinical heterogeneity: defects appear in different organs, with different symptoms and severity, and at different ages. Most are multisystemic and, in general, tissues with high energy requirements are the most vulnerable. There is no current cure for mitochondrial disorders and most treatments and medication focus on alleviating the symptoms associated with the disease and slowing the course of the disease.
Abbreviation: mt disease
Communicated by Timon-Gomez Alba (last update 2024-09-12)
Primary and secondary mitochondrial disorders
Primary mitochondrial disorders are due to germline mutations in either the nuclear DNA (nDNA) or the mitochondrial DNA (mtDNA), affecting directly the function of the electron transfer system and/or the phosphorylation system. Over 1500 genes have been associated with pathogenic defects of energy metabolism. Pathogenic variants of all the 37 human mtDNA genes (13 proteins of the respiratory Complexes, 2 ribosomal RNAs and 22 transfer RNAs) have been described. Most mtDNA mutations are sporadic, but they can also be inherited maternally. There are multiple mtDNA molecules in a single cell and, therefore, usually a mixture of mutated and normal mtDNA, called heteroplasmy, is present in different tissues and organs, determining the heterogeneity in symptoms and severity. However, most mitochondrial proteins are encoded in the nDNA. Mutations in nuclear genes are inherited mostly as autosomal recessive, and rarely as autosomal dominant or X-chromosomal. Some of the most common disorders include Leigh syndrome, Leber hereditary optic neuropathy (LHON), Kearns-Sayre syndrome (KSS), mitochondrial encephalopathy lactic acidosis and stroke-like epidoses (MELAS) syndrome or myoclonic epilepsy and ragged-red fiber (MERRF) disease.
Secondary mitochondrial disorders refer to any other mutation producing abnormal mitochondrial function, not directly related to the electron transfer and the phosphorylation systems. These disorders can be inherited by mutations in nuclear genes, or acquired through different processes or environmental effects adversely impacting mitochondria, such as aging, inflammation, etc. They include neurological disorders, cancer, or autoimmune disorders, among others.
Related projects
Functional Mitochondrial Diagnostics is a project to establish standardized functional analyses and interpretation of bioenergetic snapshots, to establish in vitro mitochondrial diagnostic standards.
CureMILS: A reprogramming-based strategy for drug repositioning in patients with mitochondrial DNA-associated Leigh syndrome (MILS) (from 2021-06-01 until 2024-05-31).
Future events in Mitochondrial disease
For future events related to mitochondrial diseases, please check MitoGlobal Events.
Publications: Mitochondrial disease
| Year | Reference | Organism | Tissue;cell | Stress | |
|---|---|---|---|---|---|
| Lavorato 2024 JCI Insight | 2024 | Lavorato M, Iadarola D, Remes C, Kaur P, Broxton C, Mathew ND, Xiao R, Seiler C, Nakamaru-Ogiso E, Anderson VE, Falk MJ (2024) dldhcri3 zebrafish exhibited altered mitochondrial ultrastructure, morphology and dysfunction partially rescued by probucol or thiamine. JCI Insight [Epub ahead of print]. https://doi.org/10.1172/jci.insight.178973 | Zebrafish | Mitochondrial disease | |
| Dong 2024 Orphanet J Rare Dis | 2024 | Dong Q, Yin X, Fan S, Zhong S, Yang W, Chen K, Wang Q, Ma X, Mahlatsi RL, Yang Y, Lyu J, Fang H, Wang Y (2024) IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency. Orphanet J Rare Dis 19:305. https://doi.org/10.1186/s13023-024-03310-x | Human | Lymphocyte | Mitochondrial disease |
| Puighermanal 2024 Nat Commun | 2024 | Puighermanal E, Luna-Sánchez M, Gella A, van der Walt G, Urpi A, Royo M, Tena-Morraja P, Appiah I, de Donato MH, Menardy F, Bianchi P, Esteve-Codina A, Rodríguez-Pascau L, Vergara C, Gómez-Pallarès M, Marsicano G, Bellocchio L, Martinell M, Sanz E, Jurado S, Soriano FX, Pizcueta P, Quintana A (2024) Cannabidiol ameliorates mitochondrial disease via PPARγ activation in preclinical models. Nat Commun 15:7730. https://doi.org/10.1038/s41467-024-51884-8 | Mouse | Nervous system | Mitochondrial disease |
| Westerlund 2024 Heliyon | 2024 | Westerlund E, Marelsson SE, Karlsson M, Sjövall F, Chamkha I, Åsander Frostner E, Lundgren J, Fellman V, Eklund EA, Steding-Ehrenborg K, Darin N, Paul G, Hansson MJ, Ehinger JK, Elmér E (2024) Correlation of mitochondrial respiration in platelets, peripheral blood mononuclear cells and muscle fibers. Heliyon 10:e26745. https://doi.org/10.1016/j.heliyon.2024.e26745 | Human | Skeletal muscle Blood cells Platelet | Mitochondrial disease |
| Xia 2024 Nat Metab | 2024 | Xia W, Veeragandham P, Cao Y, Yayun Xu Y, Rhyne TE, Qian J, Hung C-W, Zhao P, Jones Y, Gao H, Liddle C, Yu RT, Downes M, Evans RM, Rydén M, Wabitsch M, Wang Z, Hakozaki H, Schöneberg J, Reilly SM, Huang J, Saltiel AR (2024) Obesity causes mitochondrial fragmentation and dysfunction in white adipocytes due to RalA activation. Nat Metab 6:273–89. https://doi.org/10.1038/s42255-024-00978-0 | Human Mouse | Fat | Mitochondrial disease |
| Meldau 2024 Mol Genet Metab Rep | 2024 | Meldau S, Ackermann S, Riordan G, van der Watt GF, Spencer C, Raga S, Khan K, Blackhurst DM, van der Westhuizen FH (2024) A novel mitochondrial DNA variant in MT-ND6: m.14430A>C p.(Trp82Gly) identified in a patient with Leigh syndrome and complex I deficiency. Mol Genet Metab Rep 39:101078. https://doi.org/10.1016/j.ymgmr.2024.101078 | Human | Fibroblast | Mitochondrial disease |
| Pegoraro 2024 Adv Drug Deliv Rev | 2024 | Pegoraro C, Domingo I, Conejos-Sánchez I, Vicent MJ (2024) Unlocking the mitochondria for nanomedicine-based treatments: overcoming biological barriers, improving designs, and selecting verification techniques. | Mitochondrial disease | ||
| Zhao 2022 J Cell Sci | 2022 | Zhao Q, Yan S, Lu J, Parker DJ, Wu H, Sun Q, Crossman DK, Liu S, Wang Q, Sesaki H, Mitra K, Liu K, Jiao K (2022) Drp1 regulates transcription of ribosomal protein genes in embryonic hearts. https://doi.org/10.1242/jcs.258956 | Mouse | Heart | Mitochondrial disease |
| Lee 2022 Hum Mol Genet | 2022 | Lee RG, Balasubramaniam S, Stentenbach M, Kralj T, McCubbin T, Padman B, Smith J, Riley LG, Priyadarshi A, Peng L, Nuske MR, Webster R, Peacock K, Roberts P, Stark Z, Lemire G, Ito YA; Care4Rare Canada Consortium, Boycott KM, Geraghty MT, van Klinken JB, Ferdinandusse S, Zhou Y, Walsh R, Marcellin E, Thorburn DR, Rosciolli T, Fletcher J, Rackham O, Vaz FM, Reid GE, Filipovska A (2022) Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease. https://doi.org/10.1093/hmg/ddac040 | Human | Fibroblast | Mitochondrial disease |
| Munoz-Pujol 2022 Brain Pathol | 2022 | Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou C, Ugarteburu O, Gort L, Yubero D, García-Cazorla A, O'Callaghan M, Campistol J, Muchart J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch R, Ribes A, Urreizti R, Tort F (2022) Leigh syndrome is the main clinical characteristic of PTCD3 deficiency. https://doi.org/10.1111/bpa.13134 | Human | Fibroblast | Mitochondrial disease |
| Zhou 2022 J Hum Genet | 2022 | Zhou X, Lou X, Zhou Y, Xie Y, Han X, Dong Q, Ying X, Laurentinah MR, Zhang L, Chen Z, Li D, Fang H, Lyu J, Yang Y, Wang Y (2022) Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency. https://doi.org/10.1038/s10038-022-01102-4 | Human | Lymphocyte | Mitochondrial disease |
| Belal 2022 Biomedicines | 2022 | Belal S, Goudenège D, Bocca C, Dumont F, Chao De La Barca JM, Desquiret-Dumas V, Gueguen N, Geffroy G, Benyahia R, Kane S, Khiati S, Bris C, Aranyi T, Stockholm D, Inisan A, Renaud A, Barth M, Simard G, Reynier P, Letournel F, Lenaers G, Bonneau D, Chevrollier A, Procaccio V (2022) Glutamate-induced deregulation of krebs cycle in mitochondrial encephalopathy lactic acidosis syndrome stroke-like episodes (MELAS) syndrome is alleviated by ketone body exposure. https://doi.org/10.3390/biomedicines10071665 | Human | Neuroblastoma | Mitochondrial disease |
| Spielmann 2022 Mamm Genome | 2022 | Spielmann N, Schenkl C, Komlódi T, da Silva-Buttkus P, Heyne E, Rohde J, Amarie OV, Rathkolb B, Gnaiger E, Doenst T, Fuchs H, Gailus-Durner V, de Angelis MH, Szibor M (2022) Knockout of the Complex III subunit Uqcrh causes bioenergetic impairment and cardiac contractile dysfunction. Mamm Genome 10.1007/s00335-022-09973-w | Mouse | Heart | Oxidative stress;RONS Mitochondrial disease |
| Adant 2022 Mol Metab | 2022 | Adant I, Bird M, Decru B, Windmolders P, Wallays M, de Witte P, Rymen D, Witters P, Vermeersch P, Cassiman D, Ghesquière B (2022) Pyruvate and uridine rescue the metabolic profile of OXPHOS dysfunction. https://doi.org/10.1016/j.molmet.2022.101537 | Human | Fibroblast | Mitochondrial disease |
| Aasander Frostner 2022 BEC | 2022 | Åsander Frostner E, Simón Serrano S, Chamkha I, Donnelly E, Elmér E, Hansson MJ (2022) Towards a treatment for mitochondrial disease: current compounds in clinical development. Bioenerg Commun 2022.4. https://doi.org/10.26124/bec:2022-0004 | Human | Mitochondrial disease | |
| Schober 2022 Hum Mol Genet | 2022 | Schober FA, Tang JX, Sergeant K, Moedas MF, Zierz CM, Moore D, Smith C, Lewis D, Guha N, Hopton S, Falkous G, Lam A, Pyle A, Poulton J, Gorman GS, Taylor RW, Freyer C, Wredenberg A (2022) Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease. https://doi.org/10.1093/hmg/ddac002 | Mouse Drosophila | Fibroblast | Mitochondrial disease |
| Inak 2021 Nat Commun | 2021 | Inak G, Rybak-Wolf A, Lisowski P, Pentimalli TM, Jüttner R, Glažar P, Uppal K, Bottani E, Brunetti D, Secker C, Zink A, Meierhofer D, Henke MT, Dey M, Ciptasari U, Mlody B, Hahn T, Berruezo-Llacuna M, Karaiskos N, Di Virgilio M, Mayr JA, Wortmann SB, Priller J, Gotthardt M, Jones DP, Mayatepek E, Stenzel W, Diecke S, Kühn R, Wanker EE, Rajewsky N, Schuelke M, Prigione A (2021) Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome. Nat Commun 12:1929. | Nervous system | Mitochondrial disease | |
| Cretin 2021 EMBO Mol Med | 2021 | Cretin E, Lopes P, Vimont E, Tatsuta T, Langer T, Gazi A, Sachse M, Yu-Wai-Man P, Reynier P, Wai T (2021) High-throughput screening identifies suppressors of mitochondrial fragmentation in OPA1 fibroblasts. EMBO Mol Med 13:13579. | Mouse | Fibroblast | Mitochondrial disease |
| Friederich 2021 Mol Genet Metab | 2021 | Friederich MW, Geddes GC, Wortmann SB, Punnoose A, Wartchow E, Knight KM, Prokisch H, Creadon-Swindell G, Mayr JA, Van Hove JLK (2021) Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect. Mol Genet Metab 133:362-71. | Human | Fibroblast | Mitochondrial disease |
| Sun 2021 J Genet Genomics | 2021 | Sun Y, Wei X, Fang F, Shen Y, Wei H, Li J, Ye X, Zhan Y, Ye X, Liu X, Yang W, Li Y, Geng X, Huang X, Ruan Y, Qin Z, Yi S, Lyu J, Fang H, Yu Y (2021) HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration. J Genet Genomics 48:727-36. | Human | HeLa Lymphocyte | Mitochondrial disease |
| Acin-Perez 2021 Life (Basel) | 2021 | Acin-Perez R, Benincá C, Shabane B, Shirihai OS, Stiles L (2021) Utilization of human samples for assessment of mitochondrial bioenergetics: gold standards, limitations, and future perspectives. Life (Basel) 11:949. doi: 10.3390/life11090949 | Human | Skeletal muscle Blood cells Fibroblast Platelet | Cryopreservation Mitochondrial disease |
| Gueguen 2021 Methods Mol Biol | 2021 | Gueguen N, Lenaers G, Reynier P, Weissig V, Edeas M (2021) Mitochondrial dysfunction in mitochondrial medicine: current limitations, pitfalls, and tomorrow. https://doi.org/10.1007/978-1-0716-1266-8_1 | Mitochondrial disease | ||
| Wei 2020 Hum Mutat | 2020 | Wei X, Du M, Li D, Wen S, Xie J, Li Y, Chen A, Zhang K, Xu P, Jia M, Wen C, Zhou H, Lyu J, Yang Y, Fang H (2020) Mutations in FASTKD2 are associated with mitochondrial disease with multi-OXPHOS deficiency. Hum Mutat 41:961-72. | Human | Lymphocyte | Mitochondrial disease |
| Purhonen 2020 Nat Commun | 2020 | Purhonen J, Grigorjev V, Ekiert R, Aho N, Rajendran J, Pietras R, Truvé K, Wikström M, Sharma V, Osyczka A, Fellman V, Kallijärvi J (2020) A spontaneous mitonuclear epistasis converging on Rieske Fe-S protein exacerbates complex III deficiency in mice. Nat Commun 11:322. | Mouse | Liver Kidney | Mitochondrial disease |
| Frambach 2020 Biochim Biophys Acta Mol Basis Dis | 2020 | Frambach SJCM, van de Wal MAE, van den Broek PHH, Smeitink JAM, Russel FGM, de Haas R, Schirris TJJ (2020) Effects of clofibrate and KH176 on life span and motor function in mitochondrial complex I-deficient mice. Biochim Biophys Acta Mol Basis Dis 1866:165727. | Mouse | Skeletal muscle | Mitochondrial disease |
| Ferreira 2020 PLoS Genet | 2020 | Ferreira N, Andoniou CE, Perks KL, Ermer JA, Rudler DL, Rossetti G, Periyakaruppiah A, Wong JKY, Rackham O, Noakes PG, Degli-Esposti MA, Filipovska A (2020) Murine cytomegalovirus infection exacerbates complex IV deficiency in a model of mitochondrial disease. PLoS Genet 16:e1008604. | Mouse | Liver | Mitochondrial disease |
| Chen 2020 Mol Genet Genomic Med | 2020 | Chen D, Zhao Q, Xiong J, Lou X, Han Q, Wei X, Xie J, Li X, Zhou H, Shen L, Yang Y, Fang H, Lyu J (2020) Systematic analysis of a mitochondrial disease-causing ND6 mutation in mitochondrial deficiency. Mol Genet Genomic Med 8:e1199. | Human | Lymphocyte | Mitochondrial disease |
| Kawamura 2021 Mol Ther Nucleic Acids | 2020 | Kawamura E, Maruyama M, Abe J, Sudo A, Takeda A, Takada S, Yokota T, Kinugawa S, Harashima H, Yamada Y (2021) Validation of gene therapy for mutant mitochondria by delivering mitochondrial RNA using a MITO-porter. Mol Ther Nucleic Acids 20:687-98. | Human | Fibroblast | Mitochondrial disease |
| Burgin 2020 Int J Mol Sci | 2020 | Burgin HJ, Lopez Sanchez MIG, Smith CM, Trounce IA, McKenzie M (2020) Pioglitazone and deoxyribonucleoside combination treatment increases mitochondrial respiratory capacity in m.3243A>G MELAS cybrid cells. Int J Mol Sci 21:E2139. | Human | Other cell lines | Mitochondrial disease |
| Hassan 2020 MitoFit Preprint Arch | 2020 | Hassan Hazirah, Gnaiger Erich, Zakaria Fazaine, Makpol Suzana, Abdul Karim Norwahidah (2020) Alterations in mitochondrial respiratory capacity and membrane potential: a link between mitochondrial dysregulation and autism. https://doi.org/10.26124/mitofit:200003 | Human | Mitochondrial disease | |
| Itkis 2019 Mitochondrion | 2019 | Itkis Y, Krylova T, Pechatnikova NL, De Grassi A, Tabakov VY, Pierri CL, Aleshin V, Boyko A, Bunik VI, Zakharova EY (2019) A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent. Mitochondrion 47:10-17. | Human | Fibroblast | Mitochondrial disease |
| Germain 2019 Int J Med Sci | 2019 | Germain N, Dessein AF, Vienne JC, Dobbelaere D, Mention K, Joncquel M, Dekiouk S, Laine W, Kluza J, Marchetti P (2019) First-line screening of OXPHOS deficiencies using microscale oxygraphy in human skin fibroblasts: A preliminary study. Int J Med Sci 16:931-38. | Human | Fibroblast | Mitochondrial disease |
| Rajendran 2019 EMBO Mol Med | 2019 | Rajendran J, Purhonen J, Tegelberg S, Smolander OP, Mörgelin M, Rozman J, Gailus-Durner V, Fuchs H, Hrabe de Angelis M, Auvinen P, Mervaala E, Jacobs HT, Szibor M, Fellman V, Kallijärvi J (2019) Alternative oxidase-mediated respiration prevents lethal mitochondrial cardiomyopathy. EMBO Mol Med 11:e9456. | Mouse | Liver Kidney Heart | Mitochondrial disease |
| Gaudo 2019 Neurogenetics | 2019 | Gaudó P, Emperador S, Garrido-Pérez N, Ruiz-Pesini E, Yubero D, García-Cazorla A, Artuch R, Montoya J, Bayona-Bafaluy MP (2019) Infectious stress triggers a POLG-related mitochondrial disease. Neurogenetics 21:19-27. | Human | Fibroblast | Mitochondrial disease |
| Friederich 2019 Mol Genet Metab | 2019 | Friederich MW, Perez FA, Knight KM, Van Hove RA, Yang SP, Saneto RP, Van Hove JLK (2019) Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement. Mol Genet Metab 129:236-42. | Human | Fibroblast | Mitochondrial disease |
| Repp 2019 Thesis | 2019 | Repp BM (2019) Identification and verification of novel disease-causing genes and therapy options for patients with mitochondrial disorders – Focus on ACAD9. PhD Thesis 178. | Human | HEK | Mitochondrial disease |
| Sprenger 2018 EMBO Mol Med | 2018 | Sprenger HG, Wani G, Hesseling A, König T, Patron M, MacVicar T, Ahola S, Wai T, Barth E, Rugarli EI, Bergami M, Langer T (2018) Loss of the mitochondrial i-AAA protease YME1L leads to ocular dysfunction and spinal axonopathy. EMBO Mol Med 11:e9288. | Mouse | Nervous system | Mitochondrial disease |
| Becker 2018 EMBO Rep | 2018 | Becker C, Kukat A, Szczepanowska K, Hermans S, Senft K, Brandscheid CP, Maiti P, Trifunovic A (2018) CLPP deficiency protects against metabolic syndrome but hinders adaptive thermogenesis. EMBO Rep 19. pii: e45126. | Mouse | Liver Fat | Temperature Mitochondrial disease |
| Boutoual 2018 Scientific Reports | 2018 | Boutoual, R., Meseguer, S., Villarroya, M., Martin-Hernandez, E., Errami, M., Martin, M. A., Casado, M., and Armengod, M. E. (2018) Defects in the mitochondrial-tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARgamma-UCP2-AMPK axis. Scientific reports 8, 1163 | Human | Other cell lines Fibroblast | Mitochondrial disease |
| Kauppila 2018 Thesis | 2018 | Kauppila JHK (2018) Generating mammalian mitochondrial disease models with mitochondrial DNA mutations. PhD Thesis p120. | Mouse | Heart Liver | Oxidative stress;RONS Mitochondrial disease |
| Ignatenko 2018 Nat Commun | 2018 | Ignatenko O, Chilov D, Paetau I, de Miguel E, Jackson CB, Capin G, Paetau A, Terzioglu M, Euro L, Suomalainen A (2018) Loss of mtDNA activates astrocytes and leads to spongiotic encephalopathy. Nat Commun 9:70. | Mouse | Nervous system | Mitochondrial disease |
| Alston 2018 Am J Hum Genet | 2018 | Alston CL, Heidler J, Dibley MG, Kremer LS, Taylor LS, Fratter C, French CE, Glasgow RIC, Feichtinger RG, Delon I, Pagnamenta AT, Dolling H, Lemonde H, Aiton N, Bjørnstad A, Henneke L, Gärtner J, Thiele H, Tauchmannova K, Quaghebeur G, Houstek J, Sperl W, Raymond FL, Prokisch H, Mayr JA, McFarland R, Poulton J, Ryan MT, Wittig I, Henneke M, Taylor RW (2018) Bi-allelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex I deficiency. Am J Hum Genet 103:592-601. | Human | Fibroblast | Mitochondrial disease |
| Dogan 2018 Cell Metab | 2018 | Dogan SA, Cerutti R, Benincá C, Brea-Calvo G, Jacobs HT, Zeviani M, Szibor M, Viscomi C (2018) Perturbed redox signaling exacerbates a mitochondrial myopathy. Cell Metab 28:764-77. | Mouse | Skeletal muscle | Mitochondrial disease |
| Jia 2018 Circ Res | 2018 | Jia G, Hill MA, Sowers JR (2018) Diabetic cardiomyopathy: an update of mechanisms contributing to this clinical entity. Circ Res 122:624–38. | Human | Heart | Oxidative stress;RONS Mitochondrial disease |
| Li 2018 Gene | 2018 | Li Y, Wen S, Li D, Xie J, Wei X, Li X, Liu Y, Fang H, Yang Y, Lyu J (2018) SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences. Gene 674:15-24. | Human | Blood cells | Mitochondrial disease |
| Krylova 2017 Biomed Khim | 2017 | Krylova TD, Tsygankova PG, Itkis YS, Sheremet NL, Nevinitsyna TA, Mikhaylova SV, Zakharova EY (2017) High resolution respirometry in diagnostic of mitochondrial disorders caused by mitochondrial complex I deficiency. Biomed Khim 63:327-33. | Human | Endothelial;epithelial;mesothelial cell Fibroblast | Mitochondrial disease |
| Kennedy 2017 Skelet Muscle | 2017 | Kennedy TL, Moir L, Hemming S, Edwards B, Squire S, Davies K, Guiraud S (2017) Utrophin influences mitochondrial pathology and oxidative stress in dystrophic muscle. Skelet Muscle 7:22. | Mouse | Skeletal muscle | Oxidative stress;RONS Mitochondrial disease |
| Westerlund 2017 Pediatr Res | 2017 | Westerlund E, Marelsson SE, Ehinger JK, Sjövall F, Morota S, Åsander Frostner E, Oldfors A, Darin N, Lundgren J, Hansson MJ, Fellman V, Elmér E (2017) Oxygen consumption in platelets as an adjunct diagnostic method for pediatric mitochondrial disease. Pediatr Res 83:455-65. | Human | Platelet Blood cells | Mitochondrial disease |
| Richman 2016 Nat Commun | 2016 | Richman TR, Spåhr H, Ermer JA, Davies SM, Viola HM, Bates KA, Papadimitriou J, Hool LC, Rodger J, Larsson NG, Rackham O, Filipovska A (2016) Loss of the RNA-binding protein TACO1 causes late-onset mitochondrial dysfunction in mice. Nat Commun 7:11884. | Mouse | Heart Liver | Mitochondrial disease |
| Ehinger 2016 Nat Commun | 2016 | Ehinger JK, Piel S, Ford R, Karlsson M, Sjövall F, Frostner EÅ, Morota S, Taylor RW, Turnbull DM, Cornell C, Moss SJ, Metzsch C, Hansson MJ, Fliri H, Elmér E (2016) Cell-permeable succinate prodrugs bypass mitochondrial Complex I deficiency. Nat Commun 7:12317. https://doi.org/10.1038/ncomms12317 | Heart Blood cells Fibroblast | Mitochondrial disease | |
| Koopman 2016 EMBO Mol Med | 2016 | Koopman WJ, Beyrath J, Fung CW, Koene S, Rodenburg RJ, Willems PH, Smeitink JA (2016) Mitochondrial disorders in children: toward development of small-molecule treatment strategies. EMBO Mol Med 8:311-27. | Mitochondrial disease | ||
| Thomas 2016 Neurodegeneration Therapeutics | 2016 | Thomas RR, Keeney PM, Berr SB, Khan SM, Portell FR, Shakenov MZ, Antkowiak PF, Kundu B, Tustison N, Brohawn DG, Bennett JP (2016) Recombinant human TFAM stimulates rat brain, rat cervical spinal cord and human neural stem cell mitochondrial bioenergetics. Neurodegeneration Therapeutics p41. | Rat | Nervous system | Mitochondrial disease |
| Richman 2015 PLoS Genet | 2015 | Richman TR, Ermer JA, Davies SM, Perks KL, Viola HM, Shearwood AM, Hool LC, Rackham O, Filipovska A (2015) Mutation in MRPS34 compromises protein synthesis and causes mitochondrial dysfunction. PLoS Genet 11:e1005089. | Mouse | Heart Liver | Mitochondrial disease |
| Leman 2015 Int J Biochem Cell Biol | 2015 | Leman G, Gueguen N, Desquiret-Dumas V, Kane MS, Wettervald C, Chupin S, Chevrollier A, Lebre AS, Bonnefont JP, Barth M, Amati-Bonneau P, Verny C, Henrion D, Bonneau D, Reynier P, Procaccio V (2015) Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency. Int J Biochem Cell Biol 65:91-103. | Human | Endothelial;epithelial;mesothelial cell Fibroblast | Oxidative stress;RONS Mitochondrial disease |
| Antoun 2015 JIMD Rep | 2015 | Antoun G, McBride S, Vanstone JR, Naas T, Michaud J, Redpath S, McMillan HJ, Brophy J, Daoud H, Chakraborty P, Dyment D, Holcik M, Harper ME, Lines MA (2015) Detailed biochemical and bioenergetic characterization of FBXL4-related encephalomyopathic mitochondrial DNA depletion. JIMD Rep 27:1-9. | Human | Skeletal muscle | Mitochondrial disease |
| Blanchet 2015 Sci Rep | 2015 | Blanchet L, Smeitink JA, van Emst-de Vries SE, Vogels C, Pellegrini M, Jonckheere AI, Rodenburg RJ, Buydens LM, Beyrath J, Willems PH, Koopman WJ (2015) Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning. Sci Rep 5:8035. | Human | Endothelial;epithelial;mesothelial cell Fibroblast | Mitochondrial disease |
| Hejzlarova 2015 Biochem J | 2015 | Hejzlarová K, Kaplanová V, Nůsková H, Kovářová N, Ješina P, Drahota Z, Mráček T, Seneca S, Houštěk J (2015) Alteration of structure and function of ATP synthase and cytochrome c oxidase by lack of Fo-a and Cox3 subunits caused by mitochondrial DNA 9205delTA mutation. Biochem J 466:601-11. | Human | Other cell lines | Mitochondrial disease |
| Yin 2014 J Clin Endocrinol Metab | 2014 | Yin X, Lanza IR, Swain JM, Sarr MG, Nair KS, Jensen MD (2014) Adipocyte mitochondrial function is reduced in human obesity independent of fat cell size. J Clin Endocrinol Metab 99:E209-16. | Human | Fat | Mitochondrial disease |
| Pham 2014 Am J Physiol | 2014 | Pham T, Loiselle D, Power A, Hickey AJ (2014) Mitochondrial inefficiencies and anoxic ATP hydrolysis capacities in diabetic rat heart. Am J Physiol 307:C499–507. | Rat | Heart | Ischemia-reperfusion Oxidative stress;RONS Mitochondrial disease |
| Schlagowski 2014 J Appl Physiol | 2014 | Schlagowski AI, Singh F, Charles AL, Gali Ramamoorthy T, Favret F, Piquard F, Geny B, Zoll J (2014) Mitochondrial uncoupling reduces exercise capacity despite several skeletal muscle metabolic adaptations. J Appl Physiol 116:364-75. | Rat | Skeletal muscle | Mitochondrial disease |
| Vigueira 2014 Cell Rep | 2014 | Vigueira PA, McCommis KS, Schweitzer GG, Remedi MS, Chambers KT, Fu X, McDonald WG, Cole SL, Colca JR, Kletzien RF, Burgess SC, Finck BN (2014) Mitochondrial pyruvate carrier 2 hypomorphism in mice leads to defects in glucose-stimulated insulin secretion. Cell Rep 7:2042-53. | Mouse | Heart Kidney | Mitochondrial disease |
| Pulliam 2014 Biochem J | 2014 | Pulliam DA, Deepa SS, Liu Y, Hill S, Lin AL, Bhattacharya A, Shi Y, Sloane L, Viscomi C, Zeviani M, Van Remmen H (2014) Complex IV-deficient Surf1(-/-) mice initiate mitochondrial stress responses. Biochem J 462:359-71. | Mouse | Heart Skeletal muscle | Mitochondrial disease |
| Krumschnabel 2014 Methods Enzymol | 2014 | Krumschnabel G, Eigentler A, Fasching M, Gnaiger E (2014) Use of safranin for the assessment of mitochondrial membrane potential by high-resolution respirometry and fluorometry. Methods Enzymol 542:163-81. https://doi.org/10.1016/B978-0-12-416618-9.00009-1 | Mouse | Nervous system | Mitochondrial disease |
| Kemppainen 2014 Hum Mol Genet | 2014 | Kemppainen KK, Rinne J, Sriram A, Lakanmaa M, Zeb A, Tuomela T, Popplestone A, Singh S, Sanz A, Rustin P, Jacobs HT (2014) Expression of alternative oxidase in Drosophila ameliorates diverse phenotypes due to cytochrome oxidase deficiency. Hum Mol Genet 23:2078-93. | Drosophila | Mitochondrial disease | |
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| Vielhaber 2003 Epilepsia | 2003 | Vielhaber S, Von Oertzen JH, Kudin AF, Schoenfeld A, Menzel C, Biersack HJ, Kral T, Elger CE, Kunz WS (2003) Correlation of hippocampal glucose oxidation capacity and interictal FDG-PET in temporal lobe epilepsy. Epilepsia 44:193-9. | Human | Nervous system | Mitochondrial disease |
| Kudin 2002 Eur J Neurosci | 2002 | Kudin AP, Kudina TA, Seyfried J, Vielhaber S, Beck H, Elger CE, Kunz WS (2002) Seizure-dependent modulation of mitochondrial oxidative phosphorylation in rat hippocampus. Eur J Neurosci 15:1105-14. | Rat | Nervous system | Mitochondrial disease |
| Braun 2001 Biochim Biophys Acta | 2001 | Braun U, Paju K, Eimre M, Seppet E, Orlova E, Kadaja L, Trumbeckaite S, Gellerich FN, Zierz S, Jockusch H, Seppet EK (2001) Lack of dystrophin is associated with altered integration of the mitochondria and ATPases in slow-twitch muscle cells of MDX mice. Biochim Biophys Acta 1505:258-70. | Mouse | Heart Skeletal muscle | Mitochondrial disease |
| Kunz 2000 Ann Neurol | 2000 | Kunz WS, Kudin AP, Vielhaber S, Blumecke I, Zuschratter W, Schramm J, Beck H, Elger CE (2000) Mitochondrial complex I deficiency in the epileptic focus of patients with temporal lobe epilepsy. Ann Neurol 48:766-73. | Human | Nervous system | Mitochondrial disease |
| Kemp 2000 Thermochim Acta (Vol 355) | 2000 | Kemp RB (2000) "Fire burn and cauldron bubble" (W. Shakespeare): what the calorimetric-respirometric (CR) ratio does for our understanding of cells? Thermochim Acta 355:115-24. | Ischemia-reperfusion Mitochondrial disease | ||
| Vielhaber 1999 J Neurol Sci | 1999 | Vielhaber S, Winkler K, Kirches E, Kunz D, Büchner M, Feistner H, Elger CE, Ludolph AC, Riepe MW, Kunz WS (1999) Visualization of defective mitochondrial function in skeletal muscle fibers of patients with sporadic amyotrophic lateral sclerosis. J Neurol Sci 169:133-9. | Human | Skeletal muscle Nervous system | Mitochondrial disease |
| Oexle 1999 Biochim Biophys Acta | 1999 | Oexle H, Gnaiger E, Weiss G (1999) Iron-dependent changes in cellular energy metabolism: influence on citric acid cycle and oxidative phosphorylation. Biochim Biophys Acta 1413:99-107. | Human | Blood cells | Oxidative stress;RONS Mitochondrial disease |
| Kirches 1998 J Inherit Metab Dis | 1998 | Kirches EJF, Winkler K, Warich-Kirches M, Szibor R, Wien F, Kunz WS, von Bossanyi P, Bajaj PK, Dietzmann K (1998) mtDNA depletion and impairment of mitochondrial function in a case of a multisystem disorder including severe myopathy. J Inherit Metab Dis 21:400-8. | Human | Skeletal muscle | Mitochondrial disease |
| Kunz 1997 Mol Cell Biochem | 1997 | Kunz WS, Winkler K, Kuznetsov AV, Lins H, Kirches E, Wallesch CW (1997) Detection of mitochondrial defects by laser fluorimetry. Mol Cell Biochem 174:97-100. | Human | Skeletal muscle | Mitochondrial disease |
| Halangk 1997 Zentralbl Chir | 1997 | Halangk W, Matthias R, Nedelev B, Schild L, Meyer F, Schulz H-U, Lippert H (1997) Beeinträchtigung der Energiebereitstellung von Pankreasmitochondrien bei experimenteller akuter Pankreatitis. Zentralbl Chir 122:305-8. | Mitochondrial disease | ||
| Kunz 1997 Anal Biochem | 1997 | Kunz D, Luley C, Winkler K, Lins H, Kunz WS (1997) Flow cytometric detection of mitochondrial dysfunction in subpopulations of human mononuclear cells. Anal Biochem 246:218-24. | Blood cells Lymphocyte | Mitochondrial disease | |
| Kirches 1996 Saponin | 1996 | Kirches E, Winkler K, Kuznetsov AV, Lins H, von Bossanyi P, Dietzmann K, Frank B, Feistner H, Kunz WS (1996) Laserfluoreszenz-Studien der Mitochondrienfunktion in Saponin-permeabilisierten Skelettmuskelfasern von Patienten mit chronisch progressiver externer Ophthalmoplegie. Jahrb Neuromusk Erkrankungen 1996, Arcis Verlag:166-9. | Human | Skeletal muscle | Mitochondrial disease |
| Winkler 1995 Biochim Biophys Acta | 1995 | Winkler K, Kuznetsov AV, Lins H, Kirches E, von Bossanyi P, Dietzmann K, Frank B, Feistner H, Kunz WS (1995) Laser-excited fluorescence studies of mitochondrial function in saponin-skinned skeletal muscle fibers of patients with chronic progressive external ophthalmoplegia. Biochim Biophys Acta 1272:181-4. | Human | Skeletal muscle | Mitochondrial disease |
| Kuznetsov 1994 BTK-275 | 1994 |  | Mitochondrial disease |
- Abstracts: Mitochondrial disease
| Year | Reference | Organism | Tissue;cell | Stress | |
|---|---|---|---|---|---|
| Aasander Frostner 2022 Abstract Bioblast | 2022 | 8.1. «10+5»  »Bioenergetics Communications«  | Human | Mitochondrial disease | |
| Vella 2019 MiPschool Coimbra | 2019 |  | Mitochondrial disease | ||
| Vella 2018 MiPschool Tromso C4 | 2018 | | Human | Mitochondrial disease | |
| Bamberger 2018 MiP2018 | 2018 |  | Mitochondrial disease | ||
| Iyer 2017 MiP2017 | 2017 |  | Human | Fibroblast | Mitochondrial disease |
| Laner 2017 Abstract EUROMIT2017 Cologne | 2017 |  | Human | Mitochondrial disease | |
| Schaefer 2016 Abstract ADFLIM 2016 | 2016 | ADFLIM in AD research –imaging mitochondrial function in Alzheimer´s disease | Nervous system | Mitochondrial disease | |
| Pileggi 2016 Abstract MitoFit Science Camp 2016 | 2016 | Voluntary exercise prevents high fat diet-induced cardiac mitochondrial dysfunction in male rats. | Rat | Heart | Mitochondrial disease |
| Bird 2016 Abstract IOC115 | 2016 | High-resolution respirometry for the diagnosis of mitochondrial disease. | Human | Skeletal muscle Liver Fibroblast | Mitochondrial disease |
| Pelnena 2016 Abstract MitoFit Science Camp 2016 | 2016 | OXPHOS enzyme activity measurements in mitochondria isolated from peripheral blood leukocytes in control group and patients with suspected mitochondrial disease. | Human | Blood cells Macrophage-derived | Mitochondrial disease |
| Oemer 2016b Abstract Mito Xmas Meeting Innsbruck | 2016 | The impact of mitochondrial phospholipid remodeling on mitochondrial function. | Human Pig Mouse Zebrafish Drosophila Saccharomyces cerevisiae | Heart Skeletal muscle Liver Kidney Lung;gill Fibroblast Macrophage-derived | Oxidative stress;RONS Mitochondrial disease |
| Desbats 2016 Abstract Mito Xmas Meeting Innsbruck | 2016 | CoQ biosynthetic proteins are physically and functionally related to respiratory supercomplexes in mammalian cells. | Human Mouse | HEK Fibroblast | Mitochondrial disease |
| Morato 2016 Abstract IOC116 | 2016 | Morato L, Guillot de Suduiraut MI, Grosse J, Zanoletti O, Riccio O, Fournier C, Sandi C (2016) Impaired mitochondrial function mediates early life stress-induced depression. Mitochondr Physiol Network 21.11 | Mouse | Mitochondrial disease | |
| Hoppel 2016a Abstract MitoFit Science Camp 2016 | 2016 | Skeletal muscle mitochondria in diagnostic studies. | Human | Skeletal muscle Liver | Cryopreservation Mitochondrial disease |
| Lopez 2015 Abstract MiP2015 | 2015 | Unraveling the causes of the clinical heterogeneity of coenzyme Q10 deficiency due to different molecular defects in Coq9 gene. | Mouse | Skeletal muscle | Mitochondrial disease |
| Barriocanal-Casado 2015 Abstract MiP2015 | 2015 | Targeting nutrient signaling pathways for the treatment of mitochondrial diseases. | Mouse | Mitochondrial disease | |
| Fourie 2015 Abstract MiPschool Cape Town 2015 | 2015 | The association of Coenzyme Q10-deficiencies and respiratory chain disorders in South African patients. | Human | Skeletal muscle | Mitochondrial disease |
| Tanaka 2015 Abstract MiP2015 | 2015 | GDF15 is a novel biomarker to evaluate efficacy of pyruvate therapy for mitochondrial diseases. | Other cell lines | Mitochondrial disease | |
| Foriel 2015 Abstract MiP2015 | 2015 | Drosophila as a model to study therapeutic approaches for mitochondrial diseases. | Mitochondrial disease | ||
| Jacobs 2015 Abstract MiP2015 | 2015 | Alternative respiratory chain enzymes in research and therapy. | Human Mouse Drosophila Other invertebrates | Mitochondrial disease | |
| Louw 2015 Abstract MiPschool Cape Town 2015 | 2015 | Metabolomics investigation of South African children with respiratory chain deficiencies. | Human | Mitochondrial disease | |
| Iannetti 2015 Abstract MiP2015 | 2015 | High-Content Screening of mitochondrial morphofunction in living cells. | Mitochondrial disease | ||
| Matakovic 2015 Abstract MiP2015 | 2015 | Cofactor deficiency in mitochondrial diseases. | Human | Mitochondrial disease | |
| Binko 2015 Abstract MiP2015 | 2015 | Yeast as a system for modeling mitochondrial disease mechanisms and therapies. | Saccharomyces cerevisiae | Mitochondrial disease | |
| Khan 2015 Abstract MiPschool Cape Town 2015 | 2015 | Bioenergetic Health Index profiling: step towards personalized medicine. | Human | Blood cells | Mitochondrial disease |
| Kratochvilova 2015 Abstract MiP2015 | 2015 | Mitochondrial dysfunction in Niemann Pick type C1 patient´s cells and tissues. | Human | Nervous system Liver Fibroblast | Mitochondrial disease |
| Hidalgo-Gutierrez 2015 Abstract MiP2015 | 2015 | Strategies to enhance the endogenous biosynthesis of Coenzyme Q. | Mouse | Skeletal muscle Nervous system Kidney Fibroblast | Mitochondrial disease |
| Flannery 2015 Abstract MiP2015 | 2015 | Quantitative live-cell imaging of mitochondrial network morphology in neurodegenerative conditions. | Fibroblast | Mitochondrial disease | |
| Shoubridge 2015 Abstract MiP2015 | 2015 | Posttranscriptional regulation of mitochondrial gene expression. | Mitochondrial disease | ||
| Rodinova 2015 Abstract MiP2015 | 2015 | Altered mitochondrial ultrastructure, reduced respiration and decreased level of PDH subunits in fibroblasts from 10 patients with Huntington’s disease. | Human Pig | Endothelial;epithelial;mesothelial cell Fibroblast | Mitochondrial disease |
| Wagenaars 2014 Abstract IOC 2014-04 Schroecken | 2014 | Wagenaars J, Willems PHGM, Koopman WJ (2014) Oxygen consumption in OXPHOS-deficient cells. Mitochondr Physiol Network 19.02. | Human Mouse | Skeletal muscle Fibroblast | Mitochondrial disease |
| Hepple 2014 Abstract MiP2014 | 2014 | Denervation modulates mitochondrial function when aging muscle atrophy becomes severe: implications for therapeutic intervention. | Human | Skeletal muscle | Cell death Permeability transition Oxidative stress;RONS Mitochondrial disease |
| Eggimann 2014 Abstract MiP2014 | 2014 | Adaptation to nutrient availability in human fibroblasts with mitochondrial dysfunction: the role of sirtuins. | Human | Fibroblast | Mitochondrial disease |
| Cherubini 2014 Abstract MiP2014 | 2014 | Striatal deregulation of Cdk5 alters mitochondrial dynamics in Huntington’s disease. | Nervous system | Mitochondrial disease | |
| Dennerlein 2014 Abstract IOC96 | 2014 | Dennerlein S (2014) Insights into COX-assembly: An important but not the only OXPHOS complex. Mitochondr Physiol Network 19.11. | Human | Mitochondrial disease | |
| Hahn 2014 Abstract MiP2014 | 2014 | Validation of oxygen consumption measurements in muscle and fibroblasts from patients with mitochondrial diseases. | Human | Skeletal muscle Fibroblast | Mitochondrial disease |
| Luna-Sánchez 2014 Abstract SECF | 2014 | Mitochondrial encephalopathy due to coenzyme q deficiency: pathogenesis and treatment. | Mouse | Mitochondrial disease | |
| Gnaiger 2013 Abstract ASMRM | 2013 | Gnaiger E(2013) Loss of mitochondrial competence and degenerative disease: cause and effect. Abstract ASMRM-Seoul. | Human | Mitochondrial disease | |
| Chicco 2013 Abstract IOC79 | 2013 | Chicco AJ (2013) Substrate-specific impairment of oxidative phosphorylation in Tafazzin-deficient cardiac mitochondria: potential role of CoA deficiency. Mitochondr Physiol Network 18.07 | Mouse | Heart | Mitochondrial disease |
| Mutschler 2013 | 2013 | Mutschler R (2013) Ein Umdenken in der Medizin tut not Mitochondrien in den Mittelpunkt stellen: Die Wege der Mitochondrialen Medizin. OM und Ernährung Nr. 142 / 2013, S.70-3 | Human | Mitochondrial disease | |
| Fernandez-Vizarra 2013 Abstract IOC80 | 2013 | Fernandez-Vizarra E (2013) Testing OXPHOS biogenesis and function in mitochondrial disease models. Mitochondr Physiol Network 18.09. | Human Mouse | Other cell lines | Mitochondrial disease |
| Gnaiger 2013 Abstract Neurocon Kolkata | 2013 | Gnaiger E (2013) Body mass index and the risk of neurodegeneration: from mitochondrial fitness to brain function. Abstract Neurocon 2013, Kolkata, India. Symposium: Neurocon 2013. January 17-20. | Human | Skeletal muscle | Mitochondrial disease |
| Fischer 2012 Abstract Bioblast | 2012 | Fischer M (2012) Myofacial pain syndrome and myofascial trigger points. Mitochondr Physiol Network 17.12. | Human | Nervous system | Mitochondrial disease |
| Doerrier 2012 Abstract Bioblast | 2012 | Doerrier C, Garcia JA, Escames G, Acuna-Castroviejo D (2012) Treatment with melatonin prevents myocardial mitochondrial dysfunction in experimental sepsis in mice. Mitochondr Physiol Network 17.12. | Mouse | Heart | Oxidative stress;RONS Mitochondrial disease |
| Votion 2012 Abstract Bioblast | 2012 | Votion DM (2012) The cause of atypical myopathy in grazing European horses revealed. Mitochondr Physiol Network 17.12. | Horse | Skeletal muscle | Mitochondrial disease |
| Watala 2012 Abstract Bioblast | 2012 | Watala C, Przygodzki T, Siewiera K, Kassassir H, Talar M, Labieniec-Watala M (2012) Oxygen consumption in resting and activated blood platelets: platelet mitochondria and cyclooxygenases as compounding targets for high-resolution respirometry. Mitochondr Physiol Network 17.12. | Human Rat | Endothelial;epithelial;mesothelial cell Blood cells Platelet | Ischemia-reperfusion Mitochondrial disease |
| Chinopoulos 2012 Abstract Bioblast | 2012 | Dobolyi A, Ostergaard E, Bago AG, Palkovits M, Adam-Vizi V, Chinopoulos C (2012) Exclusive neuronal expression of SUCLA2 in the human brain. Mitochondr Physiol Network 17.12. | Human | Nervous system | Mitochondrial disease |
| Burtscher J 2012 Abstract Bioblast | 2012 | Burtscher J, Eigentler A, Gnaiger E, Schwarzer C (2012) Mitochondrial function in the mouse hippocampus. Mitochondr Physiol Network 17.12. | Mouse | Nervous system | Mitochondrial disease |
| Ali 2012 Abstract Bioblast | 2012 | Ali SS (2012) Interrogating Egyptian mitochondria! Mitochondr Physiol Network 17.12. | Human Mouse | Nervous system | Oxidative stress;RONS Mitochondrial disease |
| Horscroft 2012 Abstract IOC72 | 2012 | Horscroft JA, Kotwica AO, Ashmore T, Colleoni F, Morash AJ, Gilbert E, Gnaiger E, Martin DS, Murray AJ (2012) Mitochondrial function at altitude in lowland Europeans and highland Sherpas. Mitochondr Physiol Network 17.13. | Human | Skeletal muscle | Ischemia-reperfusion Mitochondrial disease |
| Mutschler 2012 Abstract Bioblast | 2012 | Mutschler R (2012) Regenerative mitochondrial medicine – from basic research to medical practice. Mitochondr Physiol Network 17.12. | Human | Mitochondrial disease | |
| Koopman 2012 Abstract Bioblast | 2012 | Koopman WJ (2012) Cellular consequences of mitochondrial dysfunction. Mitochondr Physiol Network 17.12. | Human | Mitochondrial disease | |
| Hoppel 2012 Abstract Bioblast | 2012 | Hoppel CL (2012) Mitochondrial functional testing – muscle biopsy, isolated mitochondria and others. Mitochondr Physiol Network 17.12. | Human | Skeletal muscle Liver | Mitochondrial disease |
| Marelsson 2011 Abstract IOC61 | 2011 | Marelsson S (2011) Mitochondrial dysfunction in children with unknown encephalopathy. MiPNet16.01. | Human | Blood cells Fibroblast | Mitochondrial disease |
| Nuskova 2011 Abstract IOC61 | 2011 | Nuskova H, Pecina P, Kovarova N, Dell’Agnello C, Zeviani M, Houstek J (2011) Cytochrome c oxidase with decreased H+/e− ratio in SURF1 knockout mice. MiPNet16.01. | Mouse | Endothelial;epithelial;mesothelial cell Fibroblast | Mitochondrial disease |
| Burtscher 2011Abstract Mitochondrial Medicine | 2011 | Burtscher M, Dietrich H, Gatterer H, Gnaiger E, Harrison DK, Karall D, Krismer M, Lass-Floerl C, Parson W, Perkhofer S, Pesta D, Schocke M, Sumbalova Z, Wiethüchter A (2011) Mitochondrial competence. Regional and international cooperation for establishing new standards in functional mitochondrial diagnosis. Abstract Mitochondrial Medicine Chicago. | Mitochondrial disease | ||
| Pesta 2011Abstract Mitochondrial Medicine-Diagnosis | 2011 | Pesta D, Wiethuechter A, Karall D, Schocke M, Gnaiger E (2011) Functional mitochondrial diagnosis in a patient suffering from sudden exercise intolerance. Abstract Mitochondrial Medicine Chicago. | Human | Mitochondrial disease | |
| Lukasiak 2010 Abstract IOC60 | 2010 | Łukasiak A, Wrzosek A, Chłopicki S, Szewczyk A, Dołowy K (2010) Regulation of endothelial function by large conductance potassium channel opener NS1619. MiPNet15.10. | Guinea pig | Heart Endothelial;epithelial;mesothelial cell | Mitochondrial disease |
| Borutaite MiP2010 | 2010 | Borutaite V, Cizas P, Morkuniene R, Budvytyte R (2010) Effect of beta amyloid oligomers on neuronal viability and mitochondrial functions. | Rat | Nervous system | Mitochondrial disease |
| Brown 2010 Abstract MiP2010 | 2010 | The mitochondrion in flames: mitochondria in inflammatory neurodegeneration. | Nervous system | Oxidative stress;RONS Mitochondrial disease |
MitoPedia concepts:
MiP concept
