Functional Studies of Disease-Associated Variants in the Tubulin-Specific Chaperone D (TBCD) Gene

Martina Mariano

Research output: ThesisDoctoral Thesis

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Abstract

During fetal brain development, the dynamic properties of microtubule (MT) cytoskeleton underpin essential functions within fetal brain cells to regulate proliferation, migration, and differentiation. Tubulin chaperone proteins, such as tubulin-specific cofactor D (TBCD), modulate the assembly and disassembly of a/b tubulin heterodimers into MTs within developing neurons of the fetal brain, while mutations to TBCD are associated with a neurodevelopmental disorder known as PEBAT. This thesis finds that disease-associated missense variants affects the development of the mammalian brain, with implications for the detection of functional TBCD variants in health and disease, and the applicability of a novel preclinical mouse model to study PEBAT in Tbcd-mutant mice.
Original languageEnglish
QualificationDoctor of Philosophy
Awarding Institution
  • The University of Western Australia
Supervisors/Advisors
  • Yeoh, George, Supervisor
  • Fox, Archa, Supervisor
  • Heng, Julian, Supervisor
  • Agostino, Mark, Supervisor, External person
  • Poppe, Daniel, Supervisor
Thesis sponsors
Award date15 Apr 2021
DOIs
Publication statusUnpublished - 2020

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