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• W2912270170 abstract "Usher syndrome affects hearing, vision and balance. The syndrome is genetically heterogeneous and mutations in ten genes have been identified to be disease causing. Proteins encoded by these genes cofunction with each other and with other proteins, composing an Usher interactome with diverse functions including structural support, transport and potentially signalling at different subcellular locations in hair cells of the inner ear and in photoreceptors of the retina. In hair cells, Usher proteins mainly contribute to the formation of fibrous links, including the tip link, that connect stereocilia and stereocilia to the kinocilium. In addition, Usher proteins are found in the synaptic region where they might contribute to signal transduction by regulating the cell surface levels of Cav1.3 Ca2+ channels and exocytosis. In photoreceptor cells, the Usher proteins are seen in the region of the connecting cilium including the periciliary region, the basal body, accessory centriole and calyceal processes. Also here, Usher proteins are present in the synaptic region. Although the function of Usher proteins in photoreceptors and hair cells is not yet fully understood, promising therapeutic developments are ongoing to alleviate the phenotypic burden resulting from mutations in any of the Usher genes. Key Concepts Usher syndrome is clinically and genetically heterogeneous. Usher syndrome type I (USH1) and type II (USH2) proteins interact and form highly dynamic protein networks. Usher protein networks fulfil a role in providing structural support, play a role in intracellular transport mechanisms and are suggested to be involved in cellular signalling cascades. A range of cellular and animal models are used to unravel the molecular pathogenesis of Usher syndrome and to evaluate promising therapeutic strategies. Promising progress in the development of (pre)clinical genetic (i.e. gene augmentation, splice modulation, translational read-through and gene editing) and nongenetic (i.e. small compounds, neurotrophic factors and cell replacement) therapeutic strategies have been published for Usher syndrome." @default.
• W2912270170 created "2019-02-21" @default.
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• W2912270170 date "2017-11-15" @default.
• W2912270170 modified "2023-09-25" @default.
• W2912270170 title "Molecular Genetics of <scp>U</scp> sher Syndrome: Current State of Understanding" @default.
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• W2912270170 doi "https://doi.org/10.1002/9780470015902.a0021456.pub2" @default.
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