From Bioblast
O2k-Publications: Mitochondrial disease
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Year | Reference | Organism | Tissue;cell | |
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Janz 2023 Mol Metab | 2023 | Janz A, Walz K, Cirnu A, Surjanto J, Urlaub D, Leskien M, Kohlhaas M, Nickel A, Brand T, Nose N, Wörsdörfer P, Wagner N, Higuchi T, Maack C, Dudek J, Lorenz K, Klopocki E, Ergün S, Duff HJ, Gerull B (2023) Mutations in DNAJC19 cause altered mitochondrial structure and increased mitochondrial respiration in human iPSC-derived cardiomyocytes. https://doi.org/10.1016/j.molmet.2023.101859 | Human | HeLa |
Kutschka 2023 Basic Res Cardiol | 2023 | Kutschka I, Bertero E, Wasmus C, Xiao K, Yang L, Chen X, Oshima Y, Fischer M, Erk M, Arslan B, Alhasan L, Grosser D, Ermer KJ, Nickel A, Kohlhaas M, Eberl H, Rebs S, Streckfuss-Bömeke K, Schmitz W, Rehling P, Thum T, Higuchi T, Rabinowitz J, Maack C, Dudek J (2023) Activation of the integrated stress response rewires cardiac metabolism in Barth syndrome. https://doi.org/10.1007/s00395-023-01017-x | Mouse | Heart |
Airik 2023 Antioxidants (Basel) | 2023 | Airik M, Arbore H, Childs E, Huynh AB, Phua YL, Chen CW, Aird K, Bharathi S, Zhang B, Conlon P, Kmoch S, Kidd K, Bleyer AJ, Vockley J, Goetzman E, Wipf P, Airik R (2023) Mitochondrial ROS triggers KIN pathogenesis in FAN1-deficient kidneys. https://doi.org/10.3390/antiox12040900 | Human | Kidney |
De Moura Alvorcem 2021 J Neurochem | 2021 | de Moura Alvorcem, L, Britto R, Cecatto C, Roginski AC, Rohden F, Scholl JN, Guma FCR, Figueiro F, Amaral AU, Zanatta G, Seminotti B, Wajner M, Leipnitz G. (2021) Ethylmalonic acid impairs bioenergetics by disturbing succinate and glutamate oxidation and induces mitochondrial permeability transition pore opening in rat cerebellum. J Neurochem 158(2): 262–81. | Rat | Nervous system |
Cecatto 2020 Toxicol In Vitro | 2020 | Cecatto C, Amaral AU, Roginski AC, Castilho RF, Wajner M (2020) Impairment of mitochondrial bioenergetics and permeability transition induction caused by major long-chain fatty acids accumulating in VLCAD deficiency in skeletal muscle as potential pathomechanisms of myopathy. Toxicol In Vitro 62:104665. | Rat | Skeletal muscle |
Cecatto 2020 Mitochondrion | 2020 | Cecatto C, Amaral AU, Wajner A, Wajner SM, Castilho RF, Wajner M (2020) Disturbance of mitochondrial functions associated with permeability transition pore opening induced by cis-5-tetradecenoic and myristic acids in liver of adolescent rats. Mitochondrion 50:1-13. | Rat | Liver Other cell lines |
Tepp 2020 Biochim Biophys Acta Gen Subj | 2020 | Tepp K, Puurand M, Timohhina N, Aid-Vanakova J, Reile I, Shevchuk I, Chekulayev V, Eimre M, Peet N, Kadaja L, Paju K, Kaambre T (2020) Adaptation of striated muscles to Wolframin deficiency in mice: Alterations in cellular bioenergetics. Biochim Biophys Acta Gen Subj 1864:129523. | Mouse | Heart Skeletal muscle |
Roginski 2020 Biochim Biophys Acta Mol Basis Dis | 2020 | Roginski AC, Wajner A, Cecatto C, Wajner SM, Castilho RF, Wajner M, Amaral AU (2020) Disturbance of bioenergetics and calcium homeostasis provoked by metabolites accumulating in propionic acidemia in heart mitochondria of developing rats. Biochim Biophys Acta Mol Basis Dis 1866:165682. | Rat | Heart Other cell lines |
Li 2019 Int Urol Nephrol | 2019 | Li Z, Zhou J, Li Y, Yang F, Lian X, Liu W (2019) Mitochondrial TRPC3 promotes cell proliferation by regulating the mitochondrial calcium and metabolism in renal polycystin-2 knockdown cells. Int Urol Nephrol 51:1059-70. | Human | Endothelial;epithelial;mesothelial cell |
Wolf 2019 Cells | 2019 | Wolf C, Zimmermann R, Thaher O, Bueno D, Wüllner V, Schäfer MKE, Albrecht P, Methner A (2019) The Charcot-Marie tooth disease mutation R94Q in MFN2 decreases ATP production but increases mitochondrial respiration under conditions of mild oxidative stress. Cells 8:E1289. | Mouse | Fibroblast |
Angebault 2018 Sci Signal | 2018 | Angebault C, Fauconnier J, Patergnani S, Rieusset J, Danese A, Affortit CA, Jagodzinska J, Mégy C, Quiles M, Cazevieille C, Korchagina J, Bonnet-Wersinger D, Milea D, Hamel C, Pinton P, Thiry M, Lacampagne A, Delprat B, Delettre C (2018) ER-mitochondria cross-talk is regulated by the Ca2+ sensor NCS1 and is impaired in Wolfram syndrome. Sci Signal 11:eaaq1380. | Human | Fibroblast |
Cecatto 2018 FEBS J | 2018 | Cecatto C, Amaral AU, da Silva JC, Wajner A, Schimit MOV, da Silva LHR, Wajner SM, Zanatta A, Castilho RF, Wajner M (2018) Metabolite accumulation in VLCAD deficiency markedly disrupts mitochondrial bioenergetics and Ca2+ homeostasis in the heart. FEBS J 285:1437-55. | Rat | Heart Other cell lines |
Eimre 2018 Oxid Med Cell Longev | 2018 | Eimre M, Paju K, Peet N, Kadaja L, Tarrend M, Kasvandik S, Seppet J, Ivask M, Orlova E, Kõks S (2018) Increased mitochondrial protein levels and bioenergetics in the musculus rectus femoris of Wfs1-deficient mice. Oxid Med Cell Longev 2018:3175313. | Mouse | Skeletal muscle |
Einer 2018 Cell Mol Gastroenterol Hepatol | 2018 | Einer C, Leitzinger C, Lichtmannegger J, Eberhagen C, Rieder T, Borchard S, Wimmer R, Denk G, Popper B, Neff F, Polishchuk EV, Polishchuk RS, Hauck SM, von Toerne C, Müller JC, Karst U, Baral BS, DiSpirito AA, Kremer AE, Semrau J, Weiss KH, Hohenester S, Zischka H (2018) A high calorie diet aggravates mitochondrial dysfunction and triggers severe liver damage in Wilson disease rats. Cell Mol Gastroenterol Hepatol 7:571-96. | Rat | Liver |
Harmuth 2018 Front Mol Neurosci | 2018 | Harmuth T, Prell-Schicker C, Weber JJ, Gellerich F, Funke C, Drießen S, Magg JCD, Krebiehl G, Wolburg H, Hayer SN, Hauser S, Krüger R, Schöls L, Riess O, Hübener-Schmid J (2018) Mitochondrial morphology, function and homeostasis are impaired by expression of an N-terminal calpain cleavage fragment of Ataxin-3. Front Mol Neurosci 11:368. | Mouse | Fibroblast |
Arnoux 2018 Elife | 2018 | Arnoux I, Willam M, Griesche N, Krummeich J, Watari H, Offermann N, Weber S, Narayan Dey P, Chen C, Monteiro O, Buettner S, Meyer K, Bano D, Radyushkin K, Langston R, Lambert JJ, Wanker E, Methner A, Krauss S, Schweiger S, Stroh A (2018) Metformin reverses early cortical network dysfunction and behavior changes in Huntington's disease. Elife 7:e38744. | Mouse | Nervous system |
Bouwkamp 2018 Neurol Genet | 2018 | Bouwkamp CG, Afawi Z, Fattal-Valevski A, Krabbendam IE, Rivetti S, Masalha R, Quadri M, Breedveld GJ, Mandel H, Tailakh MA, Beverloo HB, Stevanin G, Brice A, van IJcken WFJ, Vernooij MW, Dolga AM, de Vrij FMS, Bonifati V, Kushner SA (2018) ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia. Neurol Genet 4:e223. | Human | |
Chen 2018 Hum Mol Genet | 2018 | Chen A, Tiosano D, Guran T, Baris HN, Bayram Y, Mory A, Shapiro-Kulnane L, Hodges CA, Coban Akdemir Z, Turan S, Jhangiani SN, van den Akker F, Hoppel CL, Salz HK, Lupski JR, Buchner DA (2018) Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. Hum Mol Genet 27:1913-26. | Human | Endothelial;epithelial;mesothelial cell Fibroblast |
Collard 2018 Mol Cell Biol | 2018 | Collard R, Majtan T, Park I, Kraus JP (2018) Import of TAT-conjugated propionyl coenzyme A carboxylase using models of propionic acidemia. Mol Cell Biol 38. pii: e00491-17. | Mouse | Liver |
Isohanni 2018 Neurogenetics | 2018 | Isohanni P, Carroll CJ, Jackson CB, Pohjanpelto M, Lönnqvist T, Suomalainen A (2018) Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth. Neurogenetics 19:49-53. | Human | Skeletal muscle Blood cells Fibroblast |
Chin 2017 US Patent | 2017 | Chin MT, Chien WM, Dinca A (2017) Methods for treating and preventing cardiomyopathy. US Patent WO2016094791A1. | Mouse | Heart |
Kang 2017 Mol Cell | 2017 | Kang Y, Stroud DA, Baker MJ, De Souza DP, Frazier AE, Liem M, Tull D, Mathivanan S, McConville MJ, Thorburn DR, Ryan MT, Stojanovski D (2017) Sengers Syndrome-associated mitochondrial acylglycerol kinase is a subunit of the human TIM22 protein import complex. Mol Cell 67:457-70. | Human | |
Lin 2017 Dis Model Mech | 2017 | Lin H, Magrane J, Rattelle A, Stepanova A, Galkin A, Clark EM, Dong YN, Halawani SM, Lynch DR (2017) Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia. Dis Model Mech 10(11):1343-52. | Mouse | Nervous system |
Ruiz 2017 Brain Pathol | 2017 | Ruiz M, Bégou M, Launay N, Ranea-Robles P, Bianchi P, López-Erauskin J, Morató L, Guilera C, Petit B, Vaurs-Barriere C, Guéret-Gonthier C, Bonnet-Dupeyron MN, Fourcade S, Auwerx J, Boespflug-Tanguy O, Pujol A (2017) Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus-Merzbacher disease. Brain Pathol 28:611-30. | Human Mouse | Nervous system Fibroblast |
McCurdy 2016 JCI Insight | 2016 | McCurdy CE, Schenk S, Hetrick B, Houck J, Drew BG, Kaye S, Lashbrook M, Bergman BC, Takahashi DL, Dean TA, Nemkov T, Gertsman I, Hansen KC, Philp A, Hevener AL, Chicco AJ, Aagaard KM, Grove KL, Friedman JE (2016) Maternal obesity reduces oxidative capacity in fetal skeletal muscle of Japanese macaques. JCI Insight 1:e86612. | Other mammals | Skeletal muscle |
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 | |
Kawalec 2016 Praca doktorska | 2016 | Kawalec MM (2016) Badanie komórkowych skutków mutacji w genie mitofuzyny 2. Próba zaproponowania testu patogenności mutacji. Praca doktorska p86. | Mouse | Fibroblast |
Hartmannova 2016 Hum Mol Genet | 2016 | Hartmannová H, Piherová L, Tauchmannová K, Kidd K, Acott PD, Crocker JF, Oussedik Y, Mallet M, Hodaňová K, Stránecký V, Přistoupilová A, Barešová V, Jedličková I, Živná M, Sovová J, Hůlková H, Robins V, Vrbacký M, Pecina P, Kaplanová V, Houštěk J, Mráček T, Thibeault Y, Bleyer AJ, Kmoch S (2016) Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6. Hum Mol Genet 25:4062-79. | Human | Fibroblast |
Cecatto 2016 Thesis | 2016 | Cecatto C (2016) Efeitos de acidos graxos hidroxilados de cadeia longa acumulados nas deficiencias da 3-hidroxiacil CoA desidrogenase de cadeia longa e da proteina trifunctional mitocondrial sobre a homeostase energetica mitochondrial nos musculos cardiaco e esqueletico de ratos jovens. Dissertation p103. | Rat | Heart Skeletal muscle |
Heimer 2016 Am J Hum Genet | 2016 | Heimer G, Kerätär JM, Riley LG, Balasubramaniam S, Eyal E, Pietikäinen LP, Hiltunen JK, Marek-Yagel D, Hamada J, Gregory A, Rogers C, Hogarth P, Nance MA, Shalva N, Veber A, Tzadok M, Nissenkorn A, Tonduti D, Renaldo F, Kraoua I, Panteghini C, Valletta L, Garavaglia B, Cowley MJ, Gayevskiy V, Roscioli T, Silberstein JM, Hoffmann C, Raas-Rothschild A, Tiranti V, Anikster Y, Christodoulou J, Kastaniotis AJ, Ben-Zeev B, Hayflick SJ (2016) MECR mutations cause childhood-onset dystonia and optic atrophy, a mitochondrial fatty acid synthesis disorder. Am J Hum Genet 99:1229-44. | Human | Fibroblast |
Morato 2015 Cell Death Differ | 2015 | Morató L, Ruiz M, Boada J, Calingasan NY, Galino J, Guilera C, Jové M, Naudí A, Ferrer I, Pamplona R, Serrano M, Portero-Otín M, Beal MF, Fourcade S, Pujol A (2015) Activation of sirtuin 1 as therapy for the peroxisomal disease adrenoleukodystrophy. Cell Death Differ 22:1742-53. | Mouse | Nervous system |
Kishita 2015 Am J Hum Genet | 2015 | Kishita Y, Pajak A, Bolar NA, Marobbio CM, Maffezzini C, Miniero DV, Monné M, Kohda M, Stranneheim H, Murayama K, Naess K, Lesko N, Bruhn H, Mourier A, Wibom R, Nennesmo I, Jespers A, Govaert P, Ohtake A, Van Laer L, Loeys BL, Freyer C, Palmieri F, Wredenberg A, Okazaki Y, Wedell A (2015) Intra-mitochondrial methylation deficiency due to mutations in SLC25A26. Am J Hum Genet 97:761-8. | Human | Skeletal muscle Fibroblast |
Suarez 2015 PhD Thesis | 2015 | Suárez Cunza S (2015) Actividad captadora de Radicales libres y Effecto antioxidante de Metabolitos secundarios del extracto acuoso des "Allium sativum" var. Huaralino (Ajo) en Modelos in vitro. PhD Thesis 1-39. | Rat | Liver |
Guitart 2013 Nucleic Acids Res | 2013 | Guitart T, Picchioni D, Piñeyro D, Ribas de Pouplana L (2013) Human mitochondrial disease-like symptoms caused by a reduced tRNA aminoacylation activity in flies. Nucleic Acids Res 41:6595-608. | Drosophila Hexapods | |
Vielhaber 2013 Acta Neuropathol | 2013 | Vielhaber S, Debska-Vielhaber G, Peeva V, Schoeler S, Kudin AP, Minin I, Schreiber S, Dengler R, Kollewe K, Zuschratter W, Kornblum C, Zsurka G, Kunz WS (2013) Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion. Acta Neuropathol 125:245-56. | Human | Skeletal muscle |
Iyer 2012 Hum Gene Ther | 2012 | Iyer S, Bergquist K, Young K, Gnaiger E, Rao RR, Bennett JP Jr (2012) Mitochondrial gene therapy improves respiration, biogenesis and transcription in G11778A Leber’s hereditary optic neuropathy and T8993G Leigh’s syndrome cells. Hum Gene Ther 23:647-57. | Human | Fibroblast |
Miquel 2012 PLoS One | 2012 | Miquel E, Cassina A, Martinez-Palma L, Bolatto C, Trias E, Gandelman M, Radi R, Barbeito L, Cassina P (2012) Modulation of astrocytic mitochondrial function by dichloroacetate improves survival and motor performance in inherited amyotrophic lateral sclerosis. PLoS One 7:e34776. | Mouse | Nervous system |
Gutierrez 2012 Hum Mutat | 2012 | Gutiérrez Cortés N, Pertuiset C, Dumon E, Börlin M, Hebert-Chatelain E, Pierron D, Feldmann D, Jonard L, Marlin S, Letellier T, Rocher C (2012) Novel mitochondrial DNA mutations responsible for maternally inherited non-syndromic hearing loss. Hum Mutat 33:681-9 | Human | |
Korsten 2010 Biochim Biophys Acta | 2010 | Korsten A, de Coo IF, Spruijt L, de Wit LE, Smeets HJ, Sluiter W (2010) Patients with Leber hereditary optic neuropathy fail to compensate impaired oxidative phosphorylation. Biochim Biophys Acta 1797:197-203. | Human | Nervous system Blood cells Lymphocyte |
Casasnovas 2009 J Med Genet | 2010 | Casasnovas C, Banchs I, Cassereau J, Gueguen N, Chevrollier A, Martínez-Matos JA, Bonneau D, Volpini V (2010) Phenotypic spectrum of MFN2 mutations in the Spanish population. J Med Genet 47:249-56. | Human | Nervous system Fibroblast |
Kotarsky 2010 Mitochondrion | 2010 | Kotarsky H, Karikoski R, Mörgelin M, Marjavaara S, Bergman P, Zhang DL, Smet J, van Coster R, Fellman V (2010) Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation. Mitochondrion 10:497-509. | Human | Fibroblast |
Gomez-Duran 2010 Hum Mol Genet | 2010 | Gómez-Durán A, Pacheu-Grau D, López-Gallardo E, Díez-Sánchez C, Montoya J, López-Pérez MJ, Ruiz-Pesini E (2010) Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups. Hum Mol Genet 19:3343-53. | Human | |
Iyer 2009 Mitochondrion | 2009 | Iyer S, Thomas R, Portell F, Dunham L, Quigley C, Bennett JP (2009) Recombinant mitochondrial transcription factor A with N-terminal mitochondrial transduction domain increases respiration and mitochondrial gene expression. Mitochondrion 9:196-203. | Human | Skeletal muscle Nervous system |
Cassereau 2009 Neurogenetics | 2009 | Cassereau J, Chevrollier A, Gueguen N, Malinge MC, Letournel F, Nicolas G, Richard L, Ferre M, Verny C, Dubas F, Procaccio V, Amati-Bonneau P, Bonneau D, Reynier P (2009) Mitochondrial Complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). Neurogenetics 10:145-50. | Human | Nervous system |
Iyer 2008 Nature Precedings | 2008 | Iyer S, Thomas R, Portell F, Dunham L, Quigley C, Bennett JP (2008) Recombinant mitochondrial transcription factor A with N-terminal mitochondrial transduction domain increases respiration and mitochondrial gene expression in G11778A leber’s hereditary optic neuropathy cybrid cells. Nature Precedings: hdl:10101/npre.2008.2084.1 | Nervous system | |
Deschauer 2006 Mol Genet Metab | 2006 | Deschauer M, Gizatullina Z, Schulze A, Pritsch M, Knöppel C, Knape M, Zierz S, Gellerich FN (2006) Molecular and biochemical investigations in fumarase deficiency. Mol Genet Metab 88:146-52. | Human | Fibroblast |
Pecina 2004 Physiol Res | 2004 | Pecina P, Houstkova H, Hansikova H, Zeman J, Houstek J (2004) Genetic defects of cytochrome c oxidase assembly. Physiol Res 53 Suppl 1:S213-23. | Human | Skeletal muscle Fibroblast |
Pecina 2004 Am J Physiol Cell Physiol | 2004 | Pecina P, Gnaiger E, Zeman J, Pronicka E, Houstek J (2004) Decreased affinity to oxygen of cytochrome c oxidase in Leigh syndrome caused by SURF1 mutations. Am J Physiol Cell Physiol 287:C1384-8. | Human | Fibroblast |
Pecina 2003 Biochim Biophys Acta | 2003 | Pecina P, Capkova M, Chowdhury SK, Drahota Z, Dubot A, Vojtiskova A, Hansikova H, Houstekova H, Zeman J, Godinot C, Houstek J (2003) Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome. Biochim Biophys Acta 1639:53-63. | Human | Endothelial;epithelial;mesothelial cell Fibroblast |
Varlamov 2002 Hum Mol Genet | 2002 | Varlamov DA, Kudin AP, Vielhaber S, Schroder R, Sassen R, Becker A, Kunz D, Haug K, Rebstock J, Heils A, Elger CE, Kunz WS (2002) Metabolic consequences of a novel missense mutation of the mtDNA CO I gene. Hum Mol Genet 11:1797-805. | Human | Skeletal muscle |
Vielhaber 2000 Biochem Soc Trans | 2000 | Vielhaber S, Kudin A, Schroder R, Elger CE, Kunz WS (2000) Muscle fibres: applications for the study of the metabolic consequences of enzyme deficiencies in skeletal muscle. Biochem Soc Trans 28:159-64. | Human | Skeletal muscle |
Wiedemann 1998 J Neurol Sci | 1998 | Wiedemann FR, Winkler K, Kuznetsov AV, Bartels C, Vielhaber S, Feistner H, Kunz WS (1998) Impairment of mitochondrial function in skeletal muscle of patients with amyotrophic lateral sclerosis. J Neurol Sci 156:65-72. | Human | Skeletal muscle |
Kuznetsov 1997 Biochim Biophys Acta | 1997 | Kuznetsov AV, Winkler K, Kirches E, Lins H, Feistner H, Kunz WS (1997) Application of inhibitor titrations for the detection of oxidative phosphorylation defects in saponin-skinned muscle fibers of patients with mitochondrial diseases. Biochim Biophys Acta 1360:142-50. | Skeletal muscle | |
Kunz 1995 Biochem Mol Med | 1995 | Kunz D, Luley C, Fritz S, Bohnensack R, Winkler K, Kunz WS, Wallesch CW (1995) Oxygraphic evaluation of mitochondrial function in digitonin-permeabilized mononuclear cells and cultured skin fibroblasts of patients with chronic progressive external ophthalmoplegia. Biochem Mol Med 54:105-11. | Human | |
Sperl 1994 J Inher Metab Dis | 1994 | Sperl W, Skladal D, Lanznaster N, Schranzhofer R, Zaunschirm G, Gnaiger E, Gellerich FN (1994) Polarographic studies of saponin-skinned muscle fibers in patients with mitochondrial myopathies. J Inher Metab Dis 17:307-10. | Human | Skeletal muscle |
O2k-Publications: Mitochondrial Disease; Degenerative Disease and Defect - Abstracts
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