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  The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing.

Vogl, C., Butola, T., Haag, N., Hausrat, T. J., Leitner, M. G., Moutschen, M., et al. (2017). The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing. EMBO Reports, 18(11), 2015-2029. doi:10.15252/embr.201643689.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-002E-3489-3 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-002E-3491-F
Genre: Journal Article

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 Creators:
Vogl, C., Author
Butola, T.1, Author              
Haag, N., Author
Hausrat, T. J., Author
Leitner, M. G., Author
Moutschen, M., Author
Lefebvre, P. P., Author
Speckmann, C., Author
Garrett, L., Author
Becker, L., Author
Fuchs, H., Author
de Angelis, M. H., Author
Nietzsche, S., Author
Kessels, M. M., Author
Oliver, D., Author
Kneussel, M., Author
Kilimann, M. W., Author
Strenzke, N., Author
Affiliations:
1Research Group of Synaptic Nanophysiology, MPI for Biophysical Chemistry, Max Planck Society, ou_2205655              

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Free keywords: cochlear amplification; hair bundle degeneration; progressive hearing loss; radixin; stereociliar protein transport
 Abstract: Lipopolysaccharide-responsive beige-like anchor protein (LRBA) belongs to the enigmatic class of BEACH domain-containing proteins, which have been attributed various cellular functions, typically involving intracellular protein and membrane transport processes. Here, we show that LRBA deficiency in mice leads to progressive sensorineural hearing loss. In LRBA knockout mice, inner and outer hair cell stereociliary bundles initially develop normally, but then partially degenerate during the second postnatal week. LRBA deficiency is associated with a reduced abundance of radixin and Nherf2, two adaptor proteins, which are important for the mechanical stability of the basal taper region of stereocilia. Our data suggest that due to the loss of structural integrity of the central parts of the hair bundle, the hair cell receptor potential is reduced, resulting in a loss of cochlear sensitivity and functional loss of the fraction of spiral ganglion neurons with low spontaneous firing rates. Clinical data obtained from two human patients with proteintruncating nonsense or frameshift mutations suggest that LRBA deficiency may likewise cause syndromic sensorineural hearing impairment in humans, albeit less severe than in our mouse model.

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Language(s): eng - English
 Dates: 2017-09-112017-11
 Publication Status: Published in print
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 Table of Contents: -
 Rev. Method: Peer
 Identifiers: DOI: 10.15252/embr.201643689
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Title: EMBO Reports
Source Genre: Journal
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Pages: - Volume / Issue: 18 (11) Sequence Number: - Start / End Page: 2015 - 2029 Identifier: -