0000000000306952

AUTHOR

José P. López-atalaya

0000-0001-6064-7584

showing 2 related works from this author

Astrocytes and neurons share region-specific transcriptional signatures that confer regional identity to neuronal reprogramming

2021

Region-specific gene expression shared with neurons imparts to astrocytes competence for region-specific neuronal reprogramming.

EpigenomicsCellThalamusNeocortexBiology03 medical and health sciences0302 clinical medicineThalamusGene expressionmedicineEpigeneticsProgenitor cellNeural cellResearch Articles030304 developmental biologyNeurons0303 health sciencesMultidisciplinaryNeocortexSciAdv r-articlesmedicine.anatomical_structurenervous systemAstrocytesNeuroscienceReprogramming030217 neurology & neurosurgeryResearch ArticleNeuroscience
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Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome.

2012

Background: Rubinstein-Taybi syndrome (RSTS) is a congenital neurodevelopmental disorder defined by postnatal growth deficiency, characteristic skeletal abnormalities and mental retardation and caused by mutations in the genes encoding for the transcriptional co-activators with intrinsic lysine acetyltransferase (KAT) activity CBP and p300. Previous studies have shown that neuronal histone acetylation is reduced in mouse models of RSTS. Methods: The authors identified different mutations at the CREBBP locus and generated lymphoblastoid cell lines derived from nine patients with RSTS carrying distinct CREBBP mutations that illustrate different grades of the clinical severity in the spectrum …

AdultMaleAdolescentDNA Mutational AnalysisGene ExpressionHaploinsufficiencyHydroxamic AcidsHistone DeacetylasesHistonesNeurodevelopmental disorderSettore MED/38 - Pediatria Generale E SpecialisticaHistone H2AGeneticsmedicineHistone H2BHumansCREBBP geneChildGeneGenetics (clinical)Cell Line TransformedRubinstein-Taybi SyndromebiologyRubinstein–Taybi syndromeBase SequenceAcetylationmedicine.diseaseMolecular biologyCREB-Binding ProteinChromatinHistone Deacetylase InhibitorsHistoneSettore MED/03 - Genetica MedicaAcetylationChild PreschoolMutationbiology.proteinCancer researchLeukocytes MononuclearFemaleHaploinsufficiencyE1A-Associated p300 ProteinBiomarkersJournal of medical genetics
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