Search results for "Dyskerin"

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Acute telomerase components depletion triggers oxidative stress as an early event previous to telomeric shortening

2018

Loss of function of dyskerin (DKC1), NOP10 and TIN2 are responsible for different inheritance patterns of Dyskeratosis congenita (DC; ORPHA1775). They are key components of telomerase (DKC1 and NOP10) and shelterin (TIN2), and play an important role in telomere homeostasis. They participate in several fundamental cellular processes by contributing to Dyskeratosis congenita through mechanisms that are not fully understood. Presence of oxidative stress was postulated to result from telomerase ablation. However, the resulting disturbed redox status can promote telomere attrition by generating a vicious circle, which promotes cellular senescence. This fact prompted us to study if acute loss of …

0301 basic medicineAgingTelomeraseTelomere-Binding ProteinsClinical BiochemistryCell Cycle ProteinsBiologymedicine.disease_causeBiochemistryDyskeratosis CongenitaDyskerin03 medical and health sciencesTelomere HomeostasisRibonucleoproteins Small NucleolarmedicineHumanslcsh:QH301-705.5TelomeraseCellular SenescenceTelomere ShorteningRibonucleoproteinlcsh:R5-920TelomeropathiesOrganic ChemistryNuclear ProteinsShelterinmedicine.diseaseMolecular biologyTelomereCell biologyOxidative Stress030104 developmental biologylcsh:Biology (General)DNA damageRNA InterferenceAntioxidantlcsh:Medicine (General)Oxidative stressDyskeratosis congenitaResearch PaperHeLa CellsRedox Biology
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Expression of the genetic suppressor element 24.2 (GSE24.2) decreases DNA damage and oxidative stress in X-linked dyskeratosis congenita cells.

2014

This is an open-access article distributed under the terms of the Creative Commons Attribution License.-- et al.

TelomeraseDNA repairDNA damagelcsh:MedicineCell Cycle ProteinsComputingMilieux_LEGALASPECTSOFCOMPUTINGBiologyTransfectionBioinformaticsmedicine.disease_causeBiochemistryDyskeratosis CongenitaDyskerinCell LineMiceHeterochromatinMolecular Cell BiologyMedicine and Health SciencesmedicineAnimalsHumanslcsh:ScienceMutationMultidisciplinarylcsh:RBiology and Life SciencesNuclear ProteinsCell BiologyHematologyGenetic TherapyTransfectionTelomeremedicine.diseaseTelomereCell biologyOxidative StressGene Expression Regulationlcsh:QPeptidesDyskeratosis congenitaResearch ArticleDNA DamagePLoS ONE
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