2014
Low-copper diet as a preventive strategy for Alzheimer's disease
Squitti R, Siotto M, Polimanti R. Low-copper diet as a preventive strategy for Alzheimer's disease. Neurobiology Of Aging 2014, 35: s40-s50. PMID: 24913894, DOI: 10.1016/j.neurobiolaging.2014.02.031.Peer-Reviewed Original ResearchConceptsLow copper dietAlzheimer's diseasePreventive strategiesRisk of ADSporadic Alzheimer's diseaseCopper metabolismAdverse sequelaeDietary intakePathogenetic mechanismsGeneral populationAD riskPathogenic mechanismsDiseaseDietCopper deficiencyRecent studiesRiskMetabolismPhenotypeSequelaeDerangementIntake
2013
In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure
Squitti R, Siotto M, Bucossi S, Polimanti R. In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure. BioMetals 2013, 27: 53-64. PMID: 24253677, DOI: 10.1007/s10534-013-9686-3.Peer-Reviewed Original ResearchConceptsNon-synonymous substitutionsDisease-causing mutationsWilson disease-causing mutationsDisease-causing variantsUnknown gene variantsGenetic variantsProtein X-ray structuresSequence-based approachesCopper-transporting ATPaseNovel genetic variantsAmino acid changesUncharacterized proteinsProtein functionNovel ATP7B mutationsProtein domainsFunctional predictionCopper homeostasisBioinformatics methodsAmino acidic changeATP7B geneProtein structureAcid changesATP7B proteinGenesX-ray structureGlutaredoxin 1 is a major player in copper metabolism in neuroblastoma cells
De Benedetto ML, Capo CR, Ferri A, Valle C, Polimanti R, Carrì MT, Rossi L. Glutaredoxin 1 is a major player in copper metabolism in neuroblastoma cells. Biochimica Et Biophysica Acta 2013, 1840: 255-261. PMID: 24041990, DOI: 10.1016/j.bbagen.2013.09.008.Peer-Reviewed Original ResearchMeSH KeywordsApoptosisBlotting, WesternCation Transport ProteinsCell ProliferationChromatography, AffinityCopperCopper Transporter 1GlutaredoxinsGlutathioneHumansMitochondriaNeuroblastomaOxidation-ReductionReal-Time Polymerase Chain ReactionReverse Transcriptase Polymerase Chain ReactionRNA, MessengerSuperoxide DismutaseSuperoxide Dismutase-1Tumor Cells, CulturedConceptsIntracellular copper levelsCopper transporter 1Copper-induced toxicityHomeostasis of copperCopper metabolismCopper-binding propertiesGRX1 overexpressionProtein chaperonesHuman neuroblastoma SH-SY5Y cellsCopper overloadCopper chaperoneMajor playersNeuroblastoma SH-SY5Y cellsThioredoxin familyProtein disulfidesGrx1Glutaredoxin-1SH-SY5Y cellsSmall proteinsCuSO4 treatmentNeuronal cellsMixed disulfidesChaperonesControl cellsEnzyme activityIntronic rs2147363 Variant in ATP7B Transcription Factor-Binding Site Associated with Alzheimer's Disease
Bucossi S, Polimanti R, Ventriglia M, Mariani S, Siotto M, Ursini F, Trotta L, Scrascia F, Callea A, Vernieri F, Squitti R. Intronic rs2147363 Variant in ATP7B Transcription Factor-Binding Site Associated with Alzheimer's Disease. Journal Of Alzheimer's Disease 2013, 37: 453-459. PMID: 23948886, DOI: 10.3233/jad-130431.Peer-Reviewed Original ResearchConceptsLinkage disequilibriumDisease-causing variantsCis-regulatory elementsNon-coding regionsObserved genetic associationIntronic single nucleotide polymorphismSingle nucleotide polymorphismsTranscription factorsGenetic variationATP7B variantsSilico analysisRegulatory functionsLD analysisNucleotide polymorphismsGenetic associationSites AssociatedAlzheimer's diseaseAD riskKey roleVariantsATP7B geneATP7B Variants as Modulators of Copper Dyshomeostasis in Alzheimer’s Disease
Squitti R, Polimanti R, Siotto M, Bucossi S, Ventriglia M, Mariani S, Vernieri F, Scrascia F, Trotta L, Rossini PM. ATP7B Variants as Modulators of Copper Dyshomeostasis in Alzheimer’s Disease. NeuroMolecular Medicine 2013, 15: 515-522. PMID: 23760784, DOI: 10.1007/s12017-013-8237-y.Peer-Reviewed Original ResearchLinkage Disequilibrium and Haplotype Analysis of the ATP7B Gene in Alzheimer's Disease
Squitti R, Polimanti R, Bucossi S, Ventriglia M, Mariani S, Manfellotto D, Vernieri F, Cassetta E, Ursini F, Rossini PM. Linkage Disequilibrium and Haplotype Analysis of the ATP7B Gene in Alzheimer's Disease. Rejuvenation Research 2013, 16: 3-10. PMID: 22950421, PMCID: PMC3582274, DOI: 10.1089/rej.2012.1357.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine TriphosphatasesAlzheimer DiseaseCation Transport ProteinsCopper-transporting ATPasesHaplotypesHumansLinkage DisequilibriumPolymorphism, Single NucleotideConceptsCopper-binding domainSingle nucleotide polymorphismsInformative single nucleotide polymorphismsAssociation studiesLD blocksRole of ATP7BWide association studyLinkage disequilibrium analysisGenetic structureVariants/haplotypesGenetic association analysisTransmembrane domainSignificant lociGene sequencesGenetic association studiesATP7B geneGene regionAssociation analysisGenesDisequilibrium analysisLinkage disequilibriumNovel insightsCopper dyshomeostasisStrong LDMultiple testing correction
2012
Association of K832R and R952K SNPs of Wilson's Disease Gene with Alzheimer's Disease
Bucossi S, Polimanti R, Mariani S, Ventriglia M, Bonvicini C, Migliore S, Manfellotto D, Salustri C, Vernieri F, Rossini PM, Squitti R. Association of K832R and R952K SNPs of Wilson's Disease Gene with Alzheimer's Disease. Journal Of Alzheimer's Disease 2012, 29: 913-919. PMID: 22356903, DOI: 10.3233/jad-2012-111997.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine TriphosphatasesAgedAged, 80 and overAlzheimer DiseaseArginineCation Transport ProteinsCopper-transporting ATPasesFemaleGenetic Association StudiesGenetic Predisposition to DiseaseGenotypeHumansLinkage DisequilibriumLogistic ModelsLysineMaleMiddle AgedPolymorphism, Single NucleotideConceptsDisease patientsAD patientsApolipoprotein E ε4 allele frequencyAPOE ε4 variantΕ4 allele frequencyAlzheimer's disease patientsATP7B geneLocus of susceptibilityΕ4 variantHealthy controlsNeurodegenerative processesAlzheimer's diseasePatientsRisk allelesDiseaseCopper dysfunctionR alleleATP7B allelesWilson disease geneK alleleDisease genesCopper Hypothesis in the Missing Hereditability of Sporadic Alzheimer's Disease: ATP7B Gene as Potential Harbor of Rare Variants
Squitti R, Polimanti R. Copper Hypothesis in the Missing Hereditability of Sporadic Alzheimer's Disease: ATP7B Gene as Potential Harbor of Rare Variants. Journal Of Alzheimer's Disease 2012, 29: 493-501. PMID: 22258517, DOI: 10.3233/jad-2011-111991.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine TriphosphatasesAlzheimer DiseaseCation Transport ProteinsCeruloplasminCopperCopper-transporting ATPasesHepatolenticular DegenerationHumansModels, BiologicalMutationConceptsGenome-wide association studiesRare variantsMultiple rare variantsRare gene variantsATP7B geneGene variantsAssociation studiesHigh heritabilityGenesPotential harbourGenetic contributionCopper imbalanceSporadic Alzheimer's diseaseGenetic risk factorsHeritabilityCopper involvementPivotal roleCopper toxicosisAllele variantsRecent studiesAlzheimer's diseaseParadigmatic diseaseVariantsWilson's diseaseHereditability