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Quoted phrase not found in phrase index: "Combined oxidative phosphorylation deficiency 55"
Page 1
Devimistat in Combination with Gemcitabine and Cisplatin in Biliary Tract Cancer: Preclinical Evaluation and Phase Ib Multicenter Clinical Trial (BilT-04).
Mohan A, Griffith KA, Wuchu F, Zhen DB, Kumar-Sinha C, Crysler O, Hsiehchen D, Enzler T, Dippman D, Gunchick V, Achreja A, Animasahun O, Choppara S, Nenwani M, Chinnaiyan AM, Nagrath D, Zalupski MM, Sahai V. Mohan A, et al. Clin Cancer Res. 2023 Jul 5;29(13):2394-2400. doi: 10.1158/1078-0432.CCR-23-0036. Clin Cancer Res. 2023. PMID: 37115501 Free PMC article. Clinical Trial.
In the phase Ib trial, 20 patients received a median of nine cycles (range, 3-19). One DLT was observed, and the RP2D of devimistat was determined to be 2,000 mg/m2 in combination with GC. Most common grade 3 toxicities included neutropenia (n = 11, 55%), ane …
In the phase Ib trial, 20 patients received a median of nine cycles (range, 3-19). One DLT was observed, and the RP2D of devimistat w …
Pharmacological treatments for Friedreich ataxia.
Kearney M, Orrell RW, Fahey M, Brassington R, Pandolfo M. Kearney M, et al. Cochrane Database Syst Rev. 2016 Aug 30;2016(8):CD007791. doi: 10.1002/14651858.CD007791.pub4. Cochrane Database Syst Rev. 2016. PMID: 27572719 Free PMC article. Review.
MAIN RESULTS: We identified more than 12 studies that used antioxidants in the treatment of Friedreich ataxia, but only two small RCTs, with a combined total of 72 participants, both fulfilled the selection criteria for this review and published results. ...Other RCTs were …
MAIN RESULTS: We identified more than 12 studies that used antioxidants in the treatment of Friedreich ataxia, but only two small RCTs, with …
DIDANOSINE RETINAL TOXICITY.
Haug SJ, Wong RW, Day S, Choudhry N, Sneed S, Prasad P, Read S, McDonald RH, Agarwal A, Davis J, Sarraf D. Haug SJ, et al. Retina. 2016 Dec;36 Suppl 1:S159-S167. doi: 10.1097/IAE.0000000000001267. Retina. 2016. PMID: 28005674
Eight of the 9 patients were men, and the median age was 54 years at the time of presentation (mean: 55 years, range, 42-71 years). Snellen distance acuity ranged from 20/20 to 20/32. ...Newer nucleoside reverse transcriptase inhibitors may potentiate mitochondrial …
Eight of the 9 patients were men, and the median age was 54 years at the time of presentation (mean: 55 years, range, 42-71 years). S …
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.
Persistent hyperlactataemia, mtDNA depletion and isolated cases of mitochondrial encephalomyopathies have been observed in babies under perinatal exposure with zidovudine. ...Isolated cases of renal failure and Fanconi syndrome require further investigation. Mito …
Persistent hyperlactataemia, mtDNA depletion and isolated cases of mitochondrial encephalomyopathies have been observed in bab …
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
We predicted this dysregulated metabolism would present a unique metabolite profile in blood of FA patients versus Controls (Con). Plasma from 10 FA and 11 age and sex matched Con subjects was analyzed by targeted mass spectrometry and untargeted NMR. This combined …
We predicted this dysregulated metabolism would present a unique metabolite profile in blood of FA patients versus Controls (Con). Pl …
Warburg effect linked to cognitive-executive deficits in FMR1 premutation.
Napoli E, Song G, Schneider A, Hagerman R, Eldeeb MA, Azarang A, Tassone F, Giulivi C. Napoli E, et al. FASEB J. 2016 Oct;30(10):3334-3351. doi: 10.1096/fj.201600315R. Epub 2016 Jun 22. FASEB J. 2016. PMID: 27335370 Free PMC article.
A 55-200 CGG repeat expansion in the 5'-UTR of the fragile X mental retardation 1 (FMR1) gene is known as a premutation. Some carriers are affected by the neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS), primary ovarian insufficiency, and neu …
A 55-200 CGG repeat expansion in the 5'-UTR of the fragile X mental retardation 1 (FMR1) gene is known as a premutation. Some carrier …
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 …
Mitochondrial function and oxygen supply in normal and in chronically ischemic muscle: a combined 31P magnetic resonance spectroscopy and near infrared spectroscopy study in vivo.
Kemp GJ, Roberts N, Bimson WE, Bakran A, Harris PL, Gilling-Smith GL, Brennan J, Rankin A, Frostick SP. Kemp GJ, et al. J Vasc Surg. 2001 Dec;34(6):1103-10. doi: 10.1067/mva.2001.117152. J Vasc Surg. 2001. PMID: 11743568 Free article.
METHODS: Eleven male patients with PVD (mean age, 65 years; range, 55-76 years) and nine male control subjects of similar age were observed in a case-control study in vascular outpatients. ...Each subject was studied three times, and the results were combined …
METHODS: Eleven male patients with PVD (mean age, 65 years; range, 55-76 years) and nine male control subjects of similar age were …
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. ...Using haplogroup HV as the reference group, we found a statistically significa …
Polymorphisms in mitochondrial DNA (mtDNA) are used to group individuals into haplogroups reflecting human global migration and are a …
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