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  • Pathogenic Effects of Novel Mutations in the P-Type ATPase ATP13A2 (PARK9) Causing Kufor-Rakeb Syndrome, a Form of Early-Onset Parkinsonism

    Author(s)
    Park, Jin-Sung
    Mehta, Prachi
    Cooper, Antony A
    Veivers, David
    Heimbach, Andre
    Stiller, Barbara
    Kubisch, Christian
    Fung, Victor S
    Krainc, Dimitri
    Mackay-Sim, Alan
    Sue, Carolyn M
    Griffith University Author(s)
    Mackay-Sim, Alan
    Year published
    2011
    Metadata
    Show full item record
    Abstract
    Most brain diseases arise from interactions between complex genetic and environmental risk factors. Finding biomarkers for brain diseases will require appropriate cellular models to identify dysregulated cell functions and diseaseassociated biochemistries. Patient-derived stem cells hold great potential as models of brain diseases. Stem cells can proliferate and can be banked, stored, and thawed for genomic, proteomic, and functional studies. Patient-derived, induced pluripotent stem cells and adult stem cells from the olfactory organ in the nose are already giving novel insights into a number of brain diseases, including ...
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    Most brain diseases arise from interactions between complex genetic and environmental risk factors. Finding biomarkers for brain diseases will require appropriate cellular models to identify dysregulated cell functions and diseaseassociated biochemistries. Patient-derived stem cells hold great potential as models of brain diseases. Stem cells can proliferate and can be banked, stored, and thawed for genomic, proteomic, and functional studies. Patient-derived, induced pluripotent stem cells and adult stem cells from the olfactory organ in the nose are already giving novel insights into a number of brain diseases, including Parkinson's disease and schizophrenia. Biomarker discovery may be possible from investigating disease-associated cell biologies in patient-derived stem cells.
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    Journal Title
    Human Mutation
    Volume
    32
    Issue
    8
    DOI
    https://doi.org/10.1002/humu.21527
    Subject
    Genetics
    Clinical Sciences
    Publication URI
    http://hdl.handle.net/10072/42566
    Collection
    • Journal articles

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