O2k-Publications: Inherited

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O2k-Publications: Inherited

O2k-Publications in the MiPMap

»O2k-Publications: Topics

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Default sorting: chronological. Empty fields appear first in ascending order. 
 YearReferenceOrganismTissue;cell
Li 2019 Int Urol Nephrol2019Li 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.HumanEndothelial;epithelial;mesothelial cell
Wolf 2019 Cells2019Wolf 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.MouseFibroblast
Chen 2018 Hum Mol Genet2018Chen 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.HumanEndothelial;epithelial;mesothelial cell
Fibroblast
Bouwkamp 2018 Neurol Genet2018Bouwkamp 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
Harmuth 2018 Front Mol Neurosci2018Harmuth 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.MouseFibroblast
Isohanni 2018 Neurogenetics2018Isohanni 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.HumanSkeletal muscle
Blood cells
Fibroblast
Einer 2018 Cell Mol Gastroenterol Hepatol2018Einer 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.RatLiver
Arnoux 2018 Elife2018Arnoux 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.MouseNervous system
Collard 2018 Mol Cell Biol2018Collard 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.MouseLiver
Eimre 2018 Oxid Med Cell Longev2018Eimre 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.MouseSkeletal muscle
Ruiz 2017 Brain Pathol2017Ruiz 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
Kang 2017 Mol Cell2017Kang 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
Chin 2017 US Patent2017Chin MT, Chien WM, Dinca A (2017) Methods for treating and preventing cardiomyopathy. US Patent WO2016094791A1.MouseHeart
Lin 2017 Dis Model Mech2017Lin 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.MouseNervous system
Kawalec 2016 Praca doktorska2016Kawalec MM (2016) Badanie komórkowych skutków mutacji w genie mitofuzyny 2. Próba zaproponowania testu patogenności mutacji. Praca doktorska p86.MouseFibroblast
Hartmannova 2016 Hum Mol Genet2016Hartmannová 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.HumanFibroblast
Ehinger 2016 Nat Commun2016Ehinger 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.Heart
Blood cells
Fibroblast
McCurdy 2016 JCI Insight2016McCurdy 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 mammalsSkeletal muscle
Heimer 2016 Am J Hum Genet2016Heimer 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.HumanFibroblast
Morato 2015 Cell Death Differ2015Morató 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.MouseNervous system
Kishita 2015 Am J Hum Genet2015Kishita 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.HumanSkeletal muscle
Fibroblast
Guitart 2013 Nucleic Acids Res2013Guitart 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 Neuropathol2013Vielhaber 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.HumanSkeletal muscle
Gutierrez 2012 Hum Mutat2012Gutiérrez 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 33:681-9Human
Miquel 2012 PLoS One2012Miquel 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.MouseNervous system
Iyer 2012 Hum Gene Ther2012Iyer 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.HumanFibroblast
Korsten 2010 Biochim Biophys Acta2010Korsten 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.HumanNervous system
Blood cells
Lymphocyte
Kotarsky 2010 Mitochondrion2010Kotarsky 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.HumanFibroblast
Casasnovas 2009 J Med Genet2010Casasnovas 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.HumanNervous system
Fibroblast
Gomez-Duran 2010 Hum Mol Genet2010Gómez-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 Mitochondrion2009Iyer 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.HumanSkeletal muscle
Nervous system
Cassereau 2009 Neurogenetics2009Cassereau 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.HumanNervous system
Iyer 2008 Nature Precedings2008Iyer 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.2008.2084.1Nervous system
Deschauer 2006 Mol Genet Metab2006Deschauer 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.HumanFibroblast
Pecina 2004 Am J Physiol Cell Physiol2004Pecina 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.HumanFibroblast
Pecina 2004 Physiol Res2004Pecina P, Houstkova H, Hansikova H, Zeman J, Houstek J (2004) Genetic defects of cytochrome c oxidase assembly. Physiol Res 53 Suppl 1:S213-23.HumanSkeletal muscle
Fibroblast
Pecina 2003 Biochim Biophys Acta2003Pecina 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.HumanEndothelial;epithelial;mesothelial cell
Fibroblast
Varlamov 2002 Hum Mol Genet2002Varlamov 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.HumanSkeletal muscle
Vielhaber 2000 Biochem Soc Trans2000Vielhaber 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.HumanSkeletal muscle
Wiedemann 1998 J Neurol Sci1998Wiedemann 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.HumanSkeletal muscle
Kuznetsov 1997 Biochim Biophys Acta1997Kuznetsov 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 Med1995Kunz 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 Dis1994Sperl 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.HumanSkeletal muscle
O2k-Publications in the MiPMap

O2k-Publications: Inherited - Abstracts

Sort in ascending/descending order by a click on one of the small symbols in squares below.
 YearReferenceOrganismTissue;cell
Nickel 2018 IOC1302018Defects in mitochondrial calcium uptake precede defects of the respiratory chain in X-linked Barth syndrome cardiomyopathy.MouseHeart
Zdrazilova 2018 MiPschool Tromso C42018
MiPsociety
Bioenergetic characterization of skin fibroblasts from patients with congenital disorders of glycosylation.
HumanFibroblast
Pecina 2013 Abstract MiP20132013Pecina P, Houšťková H, Mráček T, Pecinová A, Nůsková H, Tesařová M, Hansíková H, Janota J, Zeman J, Houštěk J (2013) The use of lymphocytes for diagnostics of mitochondrial oxidative phosphorylation disorders. Mitochondr Physiol Network 18.08.HumanBlood cells
Lymphocyte
Wieckowski 2013 Abstract MiP20132013Wieckowski MR, Karkucinska-Wieckowska A, Wojtala A, Lebiedzinska M, Pronicki M, Duszynski J (2013) Mitochondrial bioenergetic parameters, reactive oxygen species production and the status of antioxidant defense system can be used to differentiate mitochondrial defects studied in the fibroblasts from patients with various mitochondrial disorders. Mitochondr Physiol Network 18.08.Human
Mouse
Fibroblast
Koopman 2013 Abstract MiP20132013Koopman WJH (2013) Developing novel treatment strategies for mitochondrial disease. Mitochondr Physiol Network 18.08.Other cell lines
Chicco 2013 Abstract IOC792013Chicco AJ (2013) Substrate-specific impairment of oxidative phosphorylation in Tafazzin-deficient cardiac mitochondria: potential role of CoA deficiency. Mitochondr Physiol Network 18.07MouseHeart
Iyer 2012 Abstract Bioblast2012Iyer S (2012) Gentle Science in the real world of mitochondrial physiology and genetics. Mitochondr Physiol Network 17.12.HumanFibroblast
Nuskova 2011 Abstract IOC612011Nuskova 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.MouseEndothelial;epithelial;mesothelial cell
Fibroblast
Itkis 2010 Abstract IOC602010Itkis YS (2010) Respirometry application in Leigh disease diagnostic and treatment. MiPNet15.10.HumanFibroblast

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