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    The role of the microtubule manufacturing chaperone TBCD in neuronal development and brain disorders

    Rowlands JGD 2021.pdf (14.14Mb)
    Access Status
    Open access
    Authors
    Rowlands, Jordan Gareth David
    Date
    2021
    Supervisor
    Julian Heng
    Rodrigo Carlessi
    Philip Newsholme
    Type
    Thesis
    Award
    PhD
    
    Metadata
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    Faculty
    Health Sciences
    School
    Curtin Medical School
    URI
    http://hdl.handle.net/20.500.11937/85546
    Collection
    • Curtin Theses
    Abstract

    Tubulin-specific chaperone D is a microtubule manufacturing chaperone essential to the ability for cells to adopt their appropriate shape, to undergo cell division, as well as to maintain metabolic homeostasis. Recently, homozygous missense mutations to the TBCD gene were reported to cause a severe, early onset neurodegenerative condition in infants. This thesis illuminates the vast and interconnected molecular mechanisms through which TBCD and its clinically-relevant mutations influence cell cycle, metabolism and differentiation.

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