Angelman Sindromearen oinarriak ikertzen: Zein da UBE3Aren biktima?
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Abstract
UBE3A proteinak berebiziko garrantzia dauka garunaren garapen eta funtzionamenduan, eta berau falta denean Angelman Sindromea (AS) deritzon gaitz latza garatzen da. UBE3A-ren betebeharra proteinei ubikuitina deitzen den molekula txiki bat txertatzea da. UBE3A-ren biktima edo ituak diren proteina gutxi batzuk identifikatuta dauden arren, oraindik ez dira egiaztatu. Ikerketa honetan proteina horietako bat – DDI1 – UBE3A-ren substratu dela ziurtatu da. Bestalde, UBE3A-ren aurkako funtzioa burutuz DDI1 deubikuitinatzeaz arduratzen diren lau proteina kandidatu identifikatu dira. Lan honek etorkizunerako ikerketa bide berriak irekiko ditu, gaixotasunaren oinarria hobeto ulertzen laguntzen baitu.
The UBE3A protein is a critical enzyme required for appropriate brain development and function, whose lack in the brain causes the Angelman Syndrome (AS). The role of UBE3A consists on adding ubiquitin molecules to target proteins. Although some proteins have been identified as UBE3A substrates, none of them have been validated yet. In this research, one of those proteins – DDI1 – has been validated as a UBE3A substrate. Additionally, four UBE3A counteracting proteins have been identified as putative DDI1 deubiquitinases. This study will open new research lines, as it helps to understand the basis of the disease.
The UBE3A protein is a critical enzyme required for appropriate brain development and function, whose lack in the brain causes the Angelman Syndrome (AS). The role of UBE3A consists on adding ubiquitin molecules to target proteins. Although some proteins have been identified as UBE3A substrates, none of them have been validated yet. In this research, one of those proteins – DDI1 – has been validated as a UBE3A substrate. Additionally, four UBE3A counteracting proteins have been identified as putative DDI1 deubiquitinases. This study will open new research lines, as it helps to understand the basis of the disease.
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Angelman Sindromea, ubikuitinazioa, substratua, UBE3A., Angelman disease, ubiquitination, substrate, UBE3A.