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 structureIntronic 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 gene