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Genomes and Genes | Francisca DiazSummaryAffiliation: University of Miami Country: USA Publications
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Publications
Cytochrome c oxidase deficiency: patients and animal modelsFrancisca Diaz
Department of Neurology, University of Miami Miller School of Medicine, 1095 NW 14th Terrace, Miami, Florida 33136, USA
Biochim Biophys Acta 1802:100-10. 2010..These animal models, ranging from invertebrates to mammals, in most cases mimic the pathological features of the human diseases...
A defect in the mitochondrial complex III, but not complex IV, triggers early ROS-dependent damage in defined brain regionsFrancisca Diaz
Department of Neurology, University of Miami, Miller School of Medicine, Miami, FL 33136, USA
Hum Mol Genet 21:5066-77. 2012..These findings illustrate how specific respiratory chain defects have distinct molecular mechanisms, leading to distinct pathologies, akin to the clinical heterogeneity observed in patients with mitochondrial diseases...- Cells lacking Rieske iron-sulfur protein have a reactive oxygen species-associated decrease in respiratory complexes I and IVFrancisca Diaz
Department of Neurology, University of Miami, Miller School of Medicine, Miami, Florida, USA
Mol Cell Biol 32:415-29. 2012..Our data suggest that the stability of CI, CIV, and supercomplexes is regulated by ROS in the context of defective oxidative phosphorylation... - Mitochondrial disorders caused by mutations in respiratory chain assembly factorsFrancisca Diaz
Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, USA
Semin Fetal Neonatal Med 16:197-204. 2011..Here, we describe assembly factors or chaperones that are required for respiratory chain complex assembly and their clinical relevance... - Endurance exercise is protective for mice with mitochondrial myopathyTina Wenz
Dept of Neurology, Miller School of Medicine, Univ of Miami, 1095 NW 14th Terrace, Miami, FL 33136, USA
J Appl Physiol 106:1712-9. 2009..Thus stimulating residual oxidative phosphorylation function in the affected muscle by inducing mitochondrial biogenesis through endurance exercise might offer a valuable therapeutic intervention for mitochondrial myopathy patients... - Cytochrome c oxidase is required for the assembly/stability of respiratory complex I in mouse fibroblastsFrancisca Diaz
Department of Neurology, University of Miami School of Medicine, 1095 NW 14 Terrace, Miami, FL 33136, USA
Mol Cell Biol 26:4872-81. 2006..These results suggest that in rapidly dividing cells, complex IV is required for complex I assembly or stability... - Cytochrome c oxidase deficiency in neurons decreases both oxidative stress and amyloid formation in a mouse model of Alzheimer's diseaseHirokazu Fukui
Neuroscience Program and Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA
Proc Natl Acad Sci U S A 104:14163-8. 2007..Collectively, our results suggest that, contrary to previous models, a defect in neuronal COX does not increase oxidative damage nor predispose for the formation of amyloidgenic amyloid precursor protein fragments... - Mouse models of oxidative phosphorylation defects: powerful tools to study the pathobiology of mitochondrial diseasesAlessandra Torraco
Department of Neurology, University of Miami Miller School of Medicine, 1095 NW 14th Terrace, Miami, FL 33136, USA
Biochim Biophys Acta 1793:171-80. 2009..In this review we discuss the main mouse models of mitochondrial disease developed, focusing on the ones that directly affect the OXPHOS system... - Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotypeTina Wenz
Department of Neurology, University of Miami, School of Medicine, Miami, FL 33136, USA
Cell Metab 8:249-56. 2008..Thus, induction of mitochondrial biogenesis through pharmacological or metabolic modulation of the PPAR/PGC-1alpha pathway promises to be an effective therapeutic approach for mitochondrial disorders... - Role of cytochrome C in apoptosis: increased sensitivity to tumor necrosis factor alpha is associated with respiratory defects but not with lack of cytochrome C releaseUma D Vempati
University of Miami Miller School of Medicine, 1095 NW 14th Terrace, Miami, FL 33136, USA
Mol Cell Biol 27:1771-83. 2007..These studies underscore the importance of oxidative phosphorylation and apoptosome function to both the intrinsic and extrinsic apoptotic pathways... - PGC-1alpha/beta induced expression partially compensates for respiratory chain defects in cells from patients with mitochondrial disordersSarika Srivastava
Department of Neurology, University of Miami School of Medicine, Miami, FL 33136, USA
Hum Mol Genet 18:1805-12. 2009..These results reinforce the concept that increased mitochondrial biogenesis is a promising venue for the treatment of mitochondrial diseases... - Mice lacking COX10 in skeletal muscle recapitulate the phenotype of progressive mitochondrial myopathies associated with cytochrome c oxidase deficiencyFrancisca Diaz
Department of Neurology, The Miami Project to Cure Paralysis, University of Miami Miller School of Medicine, 1095 NW 14th Terrace, Miami, FL 33136, USA
Hum Mol Genet 14:2737-48. 2005..This COX10 KO mouse allowed us to correlate the muscle function with residual COX activity, an estimate that can help predict the progression pattern of human mitochondrial myopathies... - Mitochondrial biogenesis and turnoverFrancisca Diaz
Department of Neurology, University of Miami, Miller School of Medicine, 1095 NW 14th Terrace, Miami, FL 33136, USA
Cell Calcium 44:24-35. 2008..Mitochondrial malfunction or defects in any of the many pathways involved in mitochondrial biogenesis can lead to degenerative diseases and possibly play an important part in aging... - Evaluation of the mitochondrial respiratory chain and oxidative phosphorylation system using polarography and spectrophotometric enzyme assaysAntoni Barrientos
University of Miami Miller School of Medicine, Miami, Florida, USA
Curr Protoc Hum Genet . 2009..Based on the methods described elsewhere, the assays describe methods that form a biochemical characterization of the OXPHOS system in cells and mitochondria isolated from cultured cells or tissues... - Evaluation of the mitochondrial respiratory chain and oxidative phosphorylation system using blue native gel electrophoresisFrancisca Diaz
University of Miami Miller School of Medicine, Miami, Florida, USA
Curr Protoc Hum Genet . 2009.... - Techniques and pitfalls in the detection of pathogenic mitochondrial DNA mutationsCarlos T Moraes
Department of Neurology, University of Miami School of Medicine, Miami, Florida 33136, USA
J Mol Diagn 5:197-208. 2003..To address these problems, novel approaches were developed and are discussed in this review... - Evaluation of the mitochondrial respiratory chain and oxidative phosphorylation system using yeast models of OXPHOS deficienciesFlavia Fontanesi
University of Miami Miller School of Medicine, Miami, Florida, USA
Curr Protoc Hum Genet . 2009..Several approaches for the assessment of the OXPHOS system enzymes have been developed. Based on the methods described elsewhere, this unit describes the creation and study of yeast models of mitochondrial OXPHOS deficiencies... 
Mitochondrial DNA structure and functionCarlos T Moraes
Department of Neurology, University of Miami School of Medicine, Miami, Florida 33136, USA
Int Rev Neurobiol 53:3-23. 2002- Synergistic inhibitory effect of nicotine plus oral contraceptive on mitochondrial complex-IV is mediated by estrogen receptor-β in female ratsAmi P Raval
Cerebral Vascular Disease Research Laboratories, Leonard M Miller School of Medicine, University of Miami, Miami, FL 33136, USA
J Neurochem 121:157-67. 2012..Overall, these results suggest that mitochondrial ER-β loss is responsible for mitochondrial malfunction after NOC... - Human mitochondrial DNA with large deletions repopulates organelles faster than full-length genomes under relaxed copy number controlFrancisca Diaz
Department of Neurology, University of Miami, School of Medicine, Miami, FL 33136, USA
Nucleic Acids Res 30:4626-33. 2002..Taken together, our results indicate that, under relaxed copy number control, DeltamtDNAs repopulate mitochondria more efficiently than full-length genomes...