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Creator:: Chatterjee, Paroma
Abstract:: Auditory defects and disorders are prevalent at all ages and affect 8% of the population in developed nations including newborns and children. Congenital hearing loss is the most common birth defect and it is estimated that 1 in 1000 children are affected by deafness at birth or before the onset...
Resource Type:: Dissertation
Full Text:: composed of L-type voltage activated calcium channels, a VGlut3 transporter for glutamate loading in

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:: ) Marty, N. J.; Holman, C. L.; Abdullah, N.; Johnson, C. P. The C2 Domains of Otoferlin, Dysferlin, and

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:: er in e/ th re o n in e k in a se w h ic h tr a n sl a te s fr o m th e cy to so l to th e m em

Creator:: Huegel, Jacob T.
Abstract:: Fer1L6 is an uncharacterized member of the ferlin family of proteins, a group of large, calcium sensitive proteins with emerging roles in vesicle trafficking and various disease states. The presence of Fer1L6 has been identified within the C2C12 cell line of mouse skeletal muscle. To determine the protein’s subcellular location...
Resource Type:: Honors College Thesis
Full Text:: duration of this project. I would also like to acknowledge Chelsea Holman for being a great source of

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:: exocytosis and endocytosis. These fast-activating L-type Cav1.3 channels are relatively insensitive to

Creator:: France, Rebecca A.
Abstract:: Otoferlin is a protein that is essential in the process of hearing. Mutations in otoferlin are associated with profound recessive deafness. The long-term goal of the Johnson lab is to understand how otoferlin contributes to hearing and why certain mutations result in deafness. This project sought to characterize the difference...
Resource Type:: Honors College Thesis
Full Text:: ., Padmanarayana, M., Abdullah, N., Holman, C. L., LaDu, J., Tanguay, R. L., & Johnson, C. P. (2015). Otoferlin

Creator:: Matlapudi, Susmitha
Abstract:: The ferlin protein family regulates membrane trafficking events for a wide range of cellular and physiological processes in eukaryotic organisms. Structurally, ferlins are distinguished by containing five to seven C2 domains with a single-pass transmembrane domain at the C-terminus. In mammals, there are 6 ferlin genes, including Fer1L6, which confer...
Resource Type:: Honors College Thesis
Full Text:: were grown in 2 L of Lysogeny Broth with ampicillin (0.1mg/mL) and chloramphenicol (0.1mg/mL) at 37

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

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