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Quoted phrase not found in phrase index: "Combined oxidative phosphorylation deficiency 49"
Page 1
Spectrum of combined respiratory chain defects.
Mayr JA, Haack TB, Freisinger P, Karall D, Makowski C, Koch J, Feichtinger RG, Zimmermann FA, Rolinski B, Ahting U, Meitinger T, Prokisch H, Sperl W. Mayr JA, et al. J Inherit Metab Dis. 2015 Jul;38(4):629-40. doi: 10.1007/s10545-015-9831-y. Epub 2015 Mar 17. J Inherit Metab Dis. 2015. PMID: 25778941 Free PMC article. Review.
More than 250 gene defects have been reported to date and this number continues to grow. Mitochondrial diseases can be grouped into (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial …
More than 250 gene defects have been reported to date and this number continues to grow. Mitochondrial diseases can be grouped …
Value of circulating miRNA-21 in the diagnosis of subclinical diabetic cardiomyopathy.
Tao L, Huang X, Xu M, Qin Z, Zhang F, Hua F, Jiang X, Wang Y. Tao L, et al. Mol Cell Endocrinol. 2020 Dec 1;518:110944. doi: 10.1016/j.mce.2020.110944. Epub 2020 Jul 24. Mol Cell Endocrinol. 2020. PMID: 32717421 Free article. Clinical Trial.
The diagnostic efficiency of miR-21 (area under the curve AUC = 0.899) was higher than that of other parameters, including HbA1c%. Moreover, when miR-21 was combined with the duration of diabetes, HbA1c%, and lipid profiles, the AUC was the highest (AUC = 0.939) and had th …
The diagnostic efficiency of miR-21 (area under the curve AUC = 0.899) was higher than that of other parameters, including HbA1c%. Moreover, …
Natural-product-inspired design and synthesis of two series of compounds active against Trypanosoma cruzi: Insights into structure-activity relationship, toxicity, and mechanism of action.
da Rosa R, Dambrós BP, Höehr de Moraes M, Grand L, Jacolot M, Popowycz F, Steindel M, Schenkel EP, Campos Bernardes LS. da Rosa R, et al. Bioorg Chem. 2022 Feb;119:105492. doi: 10.1016/j.bioorg.2021.105492. Epub 2021 Nov 15. Bioorg Chem. 2022. PMID: 34838333
Active compounds were assessed for selectivity, hemocompatibility, synergistic potential, effects on mitochondrial membrane potential, and inhibitory effect on trypanothione reductase. ...Although increased reactive oxygen species levels might lead to mitochondrial …
Active compounds were assessed for selectivity, hemocompatibility, synergistic potential, effects on mitochondrial membrane potential …
Polymorphisms in PARK2 and MRPL37 are associated with higher risk of recurrent venous thromboembolism in a sex-specific manner.
Sundquist K, Ahmad A, Svensson PJ, Zöller B, Sundquist J, Memon AA. Sundquist K, et al. J Thromb Thrombolysis. 2018 Aug;46(2):154-165. doi: 10.1007/s11239-018-1662-x. J Thromb Thrombolysis. 2018. PMID: 29671165
Recent studies indicate that mitochondrial DNA (mtDNA) dysfunction is a biomarker of oxidative stress and can predict the risk of cardiovascular diseases (CVDs). ...Polymorphisms in nuclear genome regulating mtDNA together with FVL may be promising bio …
Recent studies indicate that mitochondrial DNA (mtDNA) dysfunction is a biomarker of oxidative stress and can predict t …
Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy.
Rönnbäck C, Nissen C, Almind GJ, Grønskov K, Milea D, Larsen M. Rönnbäck C, et al. Acta Ophthalmol. 2015 Dec;93(8):762-6. doi: 10.1111/aos.12835. Epub 2015 Sep 19. Acta Ophthalmol. 2015. PMID: 26385429 Free article.
PURPOSE: To describe the thickness of the combined ganglion cell and inner plexiform layers (GC-IPL) and the peripapillary retinal nerve fibre layer (RNFL) in patients with OPA1 c.983A>G or c.2708_2711delTTAG autosomal-dominant optic atrophy (ADOA). ...This genotype-phe …
PURPOSE: To describe the thickness of the combined ganglion cell and inner plexiform layers (GC-IPL) and the peripapillary retinal ne …
MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases.
Ratnaike TE, Greene D, Wei W, Sanchis-Juan A, Schon KR, van den Ameele J, Raymond L, Horvath R, Turro E, Chinnery PF. Ratnaike TE, et al. Nucleic Acids Res. 2021 Sep 27;49(17):9686-9695. doi: 10.1093/nar/gkab726. Nucleic Acids Res. 2021. PMID: 34428295 Free PMC article.
Diagnosing mitochondrial disorders remains challenging. This is partly because the clinical phenotypes of patients overlap with those of other sporadic and inherited disorders. ...Enriching the MitoPhen database with more patients will improve predictions for increa …
Diagnosing mitochondrial disorders remains challenging. This is partly because the clinical phenotypes of patients overlap with those …
Identification of host blood from engorged mosquitoes collected in western Uganda using cytochrome oxidase I gene sequences.
Crabtree MB, Kading RC, Mutebi JP, Lutwama JJ, Miller BR. Crabtree MB, et al. J Wildl Dis. 2013 Jul;49(3):611-26. doi: 10.7589/2012-08-213. J Wildl Dis. 2013. PMID: 23778610
Surveillance of arthropod vectors is a critical activity in monitoring and predicting outbreaks of arboviral disease, and identification of blood meals in engorged arthropods collected during surveillance efforts provides insight into the ecology of arboviruses and their v …
Surveillance of arthropod vectors is a critical activity in monitoring and predicting outbreaks of arboviral disease, and identificat …
Deciphering the potential involvement of PXMP2 and PEX11B in hydrogen peroxide permeation across the peroxisomal membrane reveals a role for PEX11B in protein sorting.
Lismont C, Koster J, Provost S, Baes M, Van Veldhoven PP, Waterham HR, Fransen M. Lismont C, et al. Biochim Biophys Acta Biomembr. 2019 Oct 1;1861(10):182991. doi: 10.1016/j.bbamem.2019.05.013. Epub 2019 May 24. Biochim Biophys Acta Biomembr. 2019. PMID: 31129117 Free article.
During the course of this study, we unexpectedly noted that inactivation of PEX11B leads to partial localization of both peroxisomal membrane and matrix proteins to mitochondria and a decrease in peroxisome density. These findings are discussed in terms of the formation of …
During the course of this study, we unexpectedly noted that inactivation of PEX11B leads to partial localization of both peroxisomal …
Profiling of the Tox21 chemical collection for mitochondrial function to identify compounds that acutely decrease mitochondrial membrane potential.
Attene-Ramos MS, Huang R, Michael S, Witt KL, Richard A, Tice RR, Simeonov A, Austin CP, Xia M. Attene-Ramos MS, et al. Environ Health Perspect. 2015 Jan;123(1):49-56. doi: 10.1289/ehp.1408642. Epub 2014 Oct 10. Environ Health Perspect. 2015. PMID: 25302578 Free PMC article.
BACKGROUND: Mitochondrial dysfunction has been implicated in the pathogenesis of a variety of disorders including cancer, diabetes, and neurodegenerative and cardiovascular diseases. Understanding whether different environmental chemicals and druglike molecules impa …
BACKGROUND: Mitochondrial dysfunction has been implicated in the pathogenesis of a variety of disorders including cancer, diabetes, a …
Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria).
Karkucinska-Wieckowska A, Lebiedzinska M, Jurkiewicz E, Pajdowska M, Trubicka J, Szymanska-Debinska T, Suski J, Pinton P, Duszynski J, Pronicki M, Wieckowski MR, Pronicka E. Karkucinska-Wieckowska A, et al. Folia Neuropathol. 2011;49(1):56-63. Folia Neuropathol. 2011. PMID: 21455844 Free article.
The in-gel activity assay in the patient's muscle confirmed a combined defect of OXPHOS, particularly indicating suppression of mitochondrial ATP synthase (complex V) activity. Measurements of functional mitochondrial bioenergetic parameters in the patient's …
The in-gel activity assay in the patient's muscle confirmed a combined defect of OXPHOS, particularly indicating suppression of mi …
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