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  • A Patient-Derived Stem Cell Model of Hereditary Spastic Paraplegia with SPAST mutations

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    Wali_2016_01Thesis.pdf (5.214Mb)
    Wali_2016_02 Movie.pptx (45.61Mb)
    Author(s)
    Wali, Gautam
    Primary Supervisor
    Crane, Denis
    Mackay-Sim, Alan
    Other Supervisors
    Fan, Yongjun
    Year published
    2016
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    Abstract
    Hereditary spastic paraplegia (HSP) is an inherited neurological disorder characterised by degeneration of long axons along the corticospinal tract, leading to lower limb spasticity and gait abnormalities. The mechanisms underlying HSP mutations that lead to degeneration of the long axons are unclear. Mutations in the SPAST gene account for the largest group of adult-onset HSP patients. In this thesis, I evaluated olfactory-neurosphere derived (ONS) cells, a population of neural progenitor cells, derived from biopsies of the olfactory mucosa from HSP patients and from healthy controls, in order to identify cell functions ...
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    Hereditary spastic paraplegia (HSP) is an inherited neurological disorder characterised by degeneration of long axons along the corticospinal tract, leading to lower limb spasticity and gait abnormalities. The mechanisms underlying HSP mutations that lead to degeneration of the long axons are unclear. Mutations in the SPAST gene account for the largest group of adult-onset HSP patients. In this thesis, I evaluated olfactory-neurosphere derived (ONS) cells, a population of neural progenitor cells, derived from biopsies of the olfactory mucosa from HSP patients and from healthy controls, in order to identify cell functions altered in HSP. The patient donors carried different SPAST mutations that included c.1413+3_1413+6del, p.E464D; c.1392 A>T, p.L195V; c.583C>G, p.E366K); c.1096G>A. SPAST encodes for spastin, a microtubule severing protein. Previous work has shown that patient ONS cells have reduced levels of spastin, dysregulation in gene expression of genes associated with microtubule dynamics, reduced levels of acetylated -tubulin (a measure of stable microtubules) and abnormal intracellular distribution of peroxisomes and mitochondria.
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    Thesis Type
    Thesis (PhD Doctorate)
    Degree Program
    Doctor of Philosophy (PhD)
    School
    School of Natural Sciences
    DOI
    https://doi.org/10.25904/1912/3051
    Copyright Statement
    The author owns the copyright in this thesis, unless stated otherwise.
    Item Access Status
    Public
    Subject
    Stem cell model
    Hereditary spastic paraplegia
    Publication URI
    http://hdl.handle.net/10072/367152
    Collection
    • Theses - Higher Degree by Research

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