Sensory hair cells convert mechanical motion into chemical signals. Otoferlin, a six-C2 domain transmembrane protein linked to deafness in humans, is hypothesized to play a
role in exocytosis at hair cell ribbon synapses. To date however, otoferlin has been
studied almost exclusively in mouse models, and no rescue experiments have...
Full Text:
Mouse Otoferlin
Chatterjee, P., Padmanarayana, M., Abdullah, N., Holman, C. L., LaDu, J.,
Tanguay, R
Sensory hair cells convert mechanical motion into chemical signals. Otoferlin, a six-C2 domain transmembrane protein linked to deafness in humans, is hypothesized to play a
role in exocytosis at hair cell ribbon synapses. To date however, otoferlin has been
studied almost exclusively in mouse models, and no rescue experiments have...
Sensory hair cells convert mechanical motion into chemical signals. Otoferlin, a six-C2 domain transmembrane protein linked to deafness in humans, is hypothesized to play a
role in exocytosis at hair cell ribbon synapses. To date however, otoferlin has been
studied almost exclusively in mouse models, and no rescue experiments have...
Sensory hair cells convert mechanical motion into chemical signals. Otoferlin, a six-C2 domain transmembrane protein linked to deafness in humans, is hypothesized to play a
role in exocytosis at hair cell ribbon synapses. To date however, otoferlin has been
studied almost exclusively in mouse models, and no rescue experiments have...
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...
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...
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...
The focus of this dissertation was to understand protein function and structure ona molecular level. To do this successfully, a variety of biochemical and biophysicaltechniques were employed. A wide variety of techniques were applied to study theproteins of interest in this dissertation to probe protein-protein interactions, proteinfunction, protein structure, and...
Hearing loss is one of the most common defect, affecting 360 million people worldwide due to several factors including congenital, present at or soon after birth or acquired with age. Congenital hearing loss affects 32 million children in the world. The economic impact of hearing loss is estimated to cost...
Cells represent microcosms of spatial and temporal structural organization, with the achievement of internal spatial organization relying upon a collection of macromolecular motor complexes to transport and localize components throughout the cell. Cytoplasmic dynein is one such motor complex, and is the principal ATP-dependent motor for retrograde transport along microtubules...