Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D

10.1038/83660 ◽  
2001 ◽  
Vol 27 (1) ◽  
pp. 103-107 ◽  
Author(s):  
Federica Di Palma ◽  
Ralph H. Holme ◽  
Elizabeth C. Bryda ◽  
Inna A. Belyantseva ◽  
Richard Pellegrino ◽  
...  
Keyword(s):  
Mouse Model ◽  
Usher Syndrome ◽  
Syndrome Type ◽  
New Type ◽  
Usher Syndrome Type

scholarly journals Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G

2017 ◽  
Vol 114 (36) ◽  
pp. 9695-9700 ◽  
Author(s):  
Alice Emptoz ◽  
Vincent Michel ◽  
Andrea Lelli ◽  
Omar Akil ◽  
Jacques Boutet de Monvel ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Mouse Model ◽  
Inner Ear ◽  
Usher Syndrome ◽  
Vestibular Function ◽  
Gene Replacement ◽  
Syndrome Type ◽  
Mechanoelectrical Transduction ◽  
Efficient Gene ◽  
Usher Syndrome Type

Our understanding of the mechanisms underlying inherited forms of inner ear deficits has considerably improved during the past 20 y, but we are still far from curative treatments. We investigated gene replacement as a strategy for restoring inner ear functions in a mouse model of Usher syndrome type 1G, characterized by congenital profound deafness and balance disorders. These mice lack the scaffold protein sans, which is involved both in the morphogenesis of the stereociliary bundle, the sensory antenna of inner ear hair cells, and in the mechanoelectrical transduction process. We show that a single delivery of the sans cDNA by the adenoassociated virus 8 to the inner ear of newborn mutant mice reestablishes the expression and targeting of the protein to the tips of stereocilia. The therapeutic gene restores the architecture and mechanosensitivity of stereociliary bundles, improves hearing thresholds, and durably rescues these mice from the balance defects. Our results open up new perspectives for efficient gene therapy of cochlear and vestibular disorders by showing that even severe dysmorphogenesis of stereociliary bundles can be corrected.

scholarly journals Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B

Gene Therapy ◽  
2007 ◽  
Vol 14 (7) ◽  
pp. 584-594 ◽  
Author(s):  
T Hashimoto ◽  
D Gibbs ◽  
C Lillo ◽  
S M Azarian ◽  
E Legacki ◽  
...  
Keyword(s):  
Mouse Model ◽  
Replacement Therapy ◽  
Usher Syndrome ◽  
Gene Replacement ◽  
Syndrome Type ◽  
Gene Replacement Therapy ◽  
Usher Syndrome Type

scholarly journals EIAV-Based Retinal Gene Therapy in the shaker1 Mouse Model for Usher Syndrome Type 1B: Development of UshStat

PLoS ONE ◽  
2014 ◽  
Vol 9 (4) ◽  
pp. e94272 ◽  
Author(s):  
Marisa Zallocchi ◽  
Katie Binley ◽  
Yatish Lad ◽  
Scott Ellis ◽  
Peter Widdowson ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Mouse Model ◽  
Usher Syndrome ◽  
Syndrome Type ◽  
Retinal Gene Therapy ◽  
Usher Syndrome Type

scholarly journals Impairment of Vision in a Mouse Model of Usher Syndrome Type III

2016 ◽  
Vol 57 (3) ◽  
pp. 866 ◽  
Author(s):  
Guilian Tian ◽  
Richard Lee ◽  
Philip Ropelewski ◽  
Yoshikazu Imanishi
Keyword(s):  
Mouse Model ◽  
Usher Syndrome ◽  
Syndrome Type ◽  
Type Iii ◽  
Usher Syndrome Type

scholarly journals Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c

2017 ◽  
Vol 35 (3) ◽  
pp. 264-272 ◽  
Author(s):  
Bifeng Pan ◽  
Charles Askew ◽  
Alice Galvin ◽  
Selena Heman-Ackah ◽  
Yukako Asai ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Mouse Model ◽  
Usher Syndrome ◽  
Vestibular Function ◽  
Syndrome Type ◽  
Usher Syndrome Type
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