Functions and regulation of the RNF12 E3 ubiquitin ligase in intellectual disability

  • Carmen Espejo Serrano

Student thesis: Doctoral Thesis › Doctor of Philosophy

Abstract

Mutations within the E3 ubiquitin ligase RNF12 (Ring Finger protein 12) cause a syndromic form of intellectual disability (ID) termed Tonne-Kalscheuer Syndrome (TOKAS). TOKAS patient mutations impair the E3 ubiquitin ligase activity of RNF12 leading to defects in substrate ubiquitylation. However, RNF12 upstream signalling pathways that control RNF12 regulation and function, have not been fully investigated yet.
Date of Award2023
Original languageEnglish
SponsorsWellcome Trust
SupervisorGreg Findlay (Supervisor) & Satpal Virdee (Supervisor)

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