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

Martina Mariano

Research output: ThesisDoctoral Thesis

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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
  • Yeoh, George, Supervisor
  • Fox, Archa, Supervisor
  • Heng, Julian, Supervisor
  • Agostino, Mark, Supervisor, External person
  • Poppe, Daniel, Supervisor
Thesis sponsors
Award date15 Apr 2021
Publication statusUnpublished - 2020


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