0000000000625240

AUTHOR

Annarita Aiello Talamanca

showing 4 related works from this author

Bone marrow cell transcripts from Fanconi anaemia patients revealin vivoalterations in mitochondrial, redox and DNA repair pathways

2013

Fanconi anaemia (FA) is a genetic cancer predisposition disorder associated with cytogenetic instability, bone marrow failure and a pleiotropic cellular phenotype, including low thresholds of responses to oxidative stress, cross-linking agents and selected cytokines. This study was aimed at defining the scope of abnormalities in gene expression using the publicly available FA Transcriptome Consortium (FTC) database (Gene Expression Omnibus, 2009 and publicly available as GSE16334). We evaluated the data set that included transcriptomal analyses on RNA obtained from low-density bone marrow cells (BMC) from 20 patients with FA and 11 healthy volunteers, by seeking to identify changes in expre…

MaleDNA Repairiron-chelating proteinsTranscriptome0302 clinical medicineFanconi anemiaGene expressioncytokineoxidative stressChildbioenergetic pathwayRegulation of gene expression0303 health sciencesHematologyGeneral Medicineheat-shock proteinMitochondria3. Good health030220 oncology & carcinogenesisFemaleFanconi anaemiaOxidation-ReductionSignal TransductionAdultiron-chelating proteinDNA repairDNA repairBone Marrow CellsBiologyProinflammatory cytokine03 medical and health sciencesmedicineHumanstranscriptsGene030304 developmental biologyoxidative streGene Expression Profilingheat-shock proteinsMolecular Sequence Annotationmedicine.diseaseMolecular biologycytokinesDNA repair Fanconi anaemia bioenergetic pathways cytokines heat-shock proteins iron-chelating proteins oxidative stress transcriptsGene expression profilingOxidative StressFanconi AnemiaCase-Control Studiesbioenergetic pathwaysTranscriptomeEuropean Journal of Haematology
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Current Experience in Testing Mitochondrial Nutrients in Disorders Featuring Oxidative Stress and Mitochondrial Dysfunction: Rational Design of Chemo…

2014

An extensive number of pathologies are associated with mitochondrial dysfunction (MDF) and oxidative stress (OS). Thus, mitochondrial cofactors termed "mitochondrial nutrients" (MN), such as alpha-lipoic acid (ALA), Coenzyme Q10 (CoQ10), and L-carnitine (CARN) (or its derivatives) have been tested in a number of clinical trials, and this review is focused on the use of MN-based clinical trials. The papers reporting on MN-based clinical trials were retrieved in MedLine up to July 2014, and evaluated for the following endpoints: (a) treated diseases; (b) dosages, number of enrolled patients and duration of treatment; (c) trial success for each MN or MN combinations as reported by authors. The…

Pathologymedicine.medical_specialtyMitochondrial Diseasesmitochondrial nutrientsCoenzymesoxidative phosphorylationReviewPharmacologyMitochondrionBiologyControlled studiesmedicine.disease_causeChemopreventionCatalysislcsh:ChemistryInorganic Chemistrychemistry.chemical_compoundmitochondrial dysfunctionmedicineAnimalsHumansPhysical and Theoretical Chemistrylcsh:QH301-705.5Molecular BiologySpectroscopyCoenzyme Q10Clinical Trials as TopicOrganic ChemistryGeneral Medicine3. Good healthComputer Science ApplicationsMitochondriaClinical trialOxidative Stresslcsh:Biology (General)lcsh:QD1-999chemistrymitochondrial dysfunction and oxidative streKrebs cycleOxidative stressmitochondrial nutrient
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From clinical description, to in vitro and animal studies, and backward to patients: Oxidative stress and mitochondrial dysfunction in Fanconi anemia

2013

Fanconi anemia (FA) is a rare genetic disease associated with deficiencies in DNA repair pathways. A body of literature points to a pro-oxidant state in FA patients, along with evidence for oxidative stress (OS) in the FA phenotype reported by in vitro, molecular, and animal studies. A highlight arises from the detection of mitochondrial dysfunction (MDF) in FA cell lines of complementation groups A, C, D2, and G. As yet lacking, in vivo studies should focus on FA-associated MDF, which may help in the understanding of the mitochondrial basis of OS detected in cells and body fluids from FA patients. Beyond the in vitro and animal databases, the available analytical devices may prompt the dir…

Pathologymedicine.medical_specialtyDNA RepairFree RadicalsDNA repairmitochondrial nutrientsCell Cycle ProteinsFree radicalsDiseaseBiologymedicine.disease_causeBioinformaticsBiochemistryChemopreventionPathogenesis03 medical and health sciencesMice0302 clinical medicineIn vivoFanconi anemiaPhysiology (medical)medicineAnimalsHumans030304 developmental biology0303 health sciencesMitochondrial nutrientNuclear ProteinsFanconi anemia Mitochondrial dysfunction Mitochondrial nutrients Chemoprevention Free radicalsmedicine.diseasePhenotype3. Good healthMitochondriaOxidative StressFanconi Anemia030220 oncology & carcinogenesisFanconi anemiaAnimal studiesReactive Oxygen SpeciesMitochondrial dysfunctionOxidative stress
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Oxidative stress in Fanconi anaemia: from cells and molecules towards prospects in clinical management.

2011

Abstract Fanconi anaemia (FA) is a genetic disease featuring bone marrow failure, proneness to malignancies, and chromosomal instability. A line of studies has related FA to oxidative stress (OS). This review attempts to evaluate the evidence for FA-associated redox abnormalities in the literature from 1981 to 2010. Among 2170 journal articles on FA evaluated, 162 related FA with OS. Early studies reported excess oxygen toxicity in FA cells that accumulated oxidative DNA damage. Prooxidant states were found in white blood cells and body fluids from FA patients as excess luminol-dependent chemiluminescence, 8-hydroxy-deoxyguanosine, reduced glutathione/oxidized glutathione imbalance, and tum…

DNA damageClinical BiochemistryBRIP1MitochondrionBiologymedicine.disease_causeBiochemistryFANCAPRDX3Oxidative StressFanconi AnemiaBiochemistryFANCGFANCD2Cancer researchmedicineAnimalsHumansMolecular BiologyOxidative stressBiological chemistry
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