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Filtering by: Creator Frydenlund, Nicole T. L. Remove constraint Creator: Frydenlund, Nicole T. L. Advisor Johnson, Colin P. Remove constraint Advisor: Johnson, Colin P.

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  • Single-molecule in vitro Characterization of Otoferlin

    Creator:
    Hams, Nicole J.
    Abstract:
    Congenital hearing loss is a common disorder and over 60 mutations in the sensory hair cell protein, otoferlin, have been linked to pre-lingual deafness. Although otoferlin is essential for hearing, the large size and low solubility of the protein have limited approaches to study its function on a molecular-level. To...
    Resource Type:
    Dissertation
    Full Text:
    AN ABSTRACT OF THE DISSERTATION OF Nicole J. Hams for the degree of Doctor of Philosophy in

  • Characterization of Fer1L6 lipid binding properties and its expression in cell cycle

    Creator:
    Chau, Trisha J.
    Abstract:
    Ferlins are a family of calcium-sensitive proteins involved in fusion and fission membrane trafficking events. There are six ferlin members: dysferlin, otoferlin, myoferlin, Fer1L4, Fer1L5, and Fer1L6. Previous research shows the first three ferlins play a pathophysiological role in humans, while the other three remain uncharacterized. Fer1L6 is one of...
    Resource Type:
    Honors College Thesis
    Date Created:
    Full Text:
    .; Sophocleous, R. A.; Turnbull, L.; Whitchurch, C. B.; Cooper, S. T. Ferlins Show Tissue-Specific Expression

  • An Investigation into the Functional Properties of the Deafness Causing Protein Otoferlin

    Creator:
    Manchanda, Aayushi
    Abstract:
    Otoferlin is a C2-domain, transmembrane protein whose mutated form is responsible for the DFNB9 subtype of prelingual hearing impairment. Mutations in otoferlin cause an autosomal recessive, non-syndromic form of deafness that is characterized by auditory neuropathy/ auditory dissynchrony (AN/AD), meaning that the outer hair cells (OHCs) are normal, and the...
    Resource Type:
    Dissertation
    Full Text:
    ................................................................................ 126 4.8 Co-localization of putative hair cell t-SNAREs with otoferlin in Neuro2A cells

  • Conformational Consequences: Calcium Regulates the Association Between Dysferlin C2A & PI(4,5)P2

    Creator:
    Otto, Shauna C.
    Abstract:
    Dysferlin is a ∼230 kDa terminally anchored membrane protein that is ubiquitously expressed, but is particularly enriched in skeletal and cardiac muscle tissue. Mutations covering the length of the protein have been linked to muscle wasting diseases including limb-girdle muscular dystrophy and Myoshi myopathy. Dysferlin has been shown to play...
    Resource Type:
    Dissertation
    Full Text:
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