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Quoted phrase not found in phrase index: "Combined oxidative phosphorylation deficiency 55"
Page 1
Update on mitochondrial toxicity: where are we now?
Walker UA. Walker UA. J HIV Ther. 2003 May;8(2):32-5. J HIV Ther. 2003. PMID: 12838162 Review.
The NRTIs differ in the mechanisms, potency and probably also tissue specificity of mitochondrial toxicity. One group of NRTIs, the so-called "d-drugs" (zalcitabine> didanosine>stavudine) are relatively strong inhibitors of g-polymerase and thus cause a time- and dos …
The NRTIs differ in the mechanisms, potency and probably also tissue specificity of mitochondrial toxicity. One group of NRTIs, the s …
Metabolomics analysis reveals dysregulation in one carbon metabolism in Friedreich Ataxia.
O'Connell TM, Logsdon DL, Payne RM. O'Connell TM, et al. Mol Genet Metab. 2022 Aug;136(4):306-314. doi: 10.1016/j.ymgme.2022.06.002. Epub 2022 Jun 13. Mol Genet Metab. 2022. PMID: 35798654
Friedreich Ataxia (FA) is a rare and often fatal autosomal recessive disease in which a mitochondrial protein, frataxin (FXN), is severely reduced in all tissues. ...We predicted this dysregulated metabolism would present a unique metabolite profile in blood of FA p …
Friedreich Ataxia (FA) is a rare and often fatal autosomal recessive disease in which a mitochondrial protein, frataxin (FXN), is sev …
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
Hayhurst H, de Coo IFM, Piekutowska-Abramczuk D, Alston CL, Sharma S, Thompson K, Rius R, He L, Hopton S, Ploski R, Ciara E, Lake NJ, Compton AG, Delatycki MB, Verrips A, Bonnen PE, Jones SA, Morris AA, Shakespeare D, Christodoulou J, Wesol-Kucharska D, Rokicki D, Smeets HJM, Pronicka E, Thorburn DR, Gorman GS, McFarland R, Taylor RW, Ng YS. Hayhurst H, et al. Ann Clin Transl Neurol. 2019 Feb 17;6(3):515-524. doi: 10.1002/acn3.725. eCollection 2019 Mar. Ann Clin Transl Neurol. 2019. PMID: 30911575 Free PMC article.
OBJECTIVES: Mitochondrial methionyl-tRNA formyltransferase (MTFMT) is required for the initiation of translation and elongation of mitochondrial protein synthesis. ...Reduction of the mitochondrial complex I and complex IV subunits was identified in the fibro …
OBJECTIVES: Mitochondrial methionyl-tRNA formyltransferase (MTFMT) is required for the initiation of translation and elongation of …
Metabolite Identification Using Infrared Ion Spectroscopy─Novel Biomarkers for Pyridoxine-Dependent Epilepsy.
van Outersterp RE, Engelke UFH, Merx J, Berden G, Paul M, Thomulka T, Berkessel A, Huigen MCDG, Kluijtmans LAJ, Mecinović J, Rutjes FPJT, van Karnebeek CDM, Wevers RA, Boltje TJ, Coene KLM, Martens J, Oomens J. van Outersterp RE, et al. Anal Chem. 2021 Nov 23;93(46):15340-15348. doi: 10.1021/acs.analchem.1c02896. Epub 2021 Nov 10. Anal Chem. 2021. PMID: 34756024 Free PMC article.
Here, we use a novel workflow based on the detection of molecular features of interest by high-throughput untargeted LC-MS analysis of patient body fluids combined with targeted molecular identification of those features using infrared ion spectroscopy (IRIS), effectively …
Here, we use a novel workflow based on the detection of molecular features of interest by high-throughput untargeted LC-MS analysis of patie …
Development of a neurotoxicity assay that is tuned to detect mitochondrial toxicants.
Delp J, Funke M, Rudolf F, Cediel A, Bennekou SH, van der Stel W, Carta G, Jennings P, Toma C, Gardner I, van de Water B, Forsby A, Leist M. Delp J, et al. Arch Toxicol. 2019 Jun;93(6):1585-1608. doi: 10.1007/s00204-019-02473-y. Epub 2019 Jun 12. Arch Toxicol. 2019. PMID: 31190196
Our new approach is based on culturing the cells in either glucose or galactose (Glc-Gal-NeuriTox) as the main carbohydrate source during toxicity testing. Using this Glc-Gal-NeuriTox assay, 52 mitochondrial and non-mitochondrial toxicants were tested. The panel of …
Our new approach is based on culturing the cells in either glucose or galactose (Glc-Gal-NeuriTox) as the main carbohydrate source during to …
Association between mitochondrial DNA haplogroup and myelodysplastic syndromes.
Poynter JN, Richardson M, Langer E, Hooten AJ, Roesler M, Hirsch B, Nguyen PL, Cioc A, Warlick E, Ross JA. Poynter JN, et al. Genes Chromosomes Cancer. 2016 Sep;55(9):688-93. doi: 10.1002/gcc.22370. Epub 2016 Jun 21. Genes Chromosomes Cancer. 2016. PMID: 27121678 Free PMC article.
Polymorphisms in mitochondrial DNA (mtDNA) are used to group individuals into haplogroups reflecting human global migration and are associated with multiple diseases, including cancer. ...We were able to classify 215 cases with confirmed MDS and 522 controls into on …
Polymorphisms in mitochondrial DNA (mtDNA) are used to group individuals into haplogroups reflecting human global migration and are a …
Peginterferon alpha-2b plus ribavirin vs interferon alpha-2b plus ribavirin for chronic hepatitis C in HIV-coinfected patients.
Crespo M, Sauleda S, Esteban JI, Juarez A, Ribera E, Andreu AL, Falco V, Quer J, Ocaña I, Ruiz I, Buti M, Pahissa A, Esteban R, Guardia J. Crespo M, et al. J Viral Hepat. 2007 Apr;14(4):228-38. doi: 10.1111/j.1365-2893.2006.00779.x. J Viral Hepat. 2007. PMID: 17381714 Clinical Trial.
We assessed early virological response at 4, 8 and 12 weeks to predict sustained virological response (SVR). Safety assessment included frequent blood lactate measurement and relative quantitation of mitochondrial DNA (mtDNA) content in peripheral blood mononuclear …
We assessed early virological response at 4, 8 and 12 weeks to predict sustained virological response (SVR). Safety assessment includ …