Usher syndrome

Aleman, T. S., J. L. Duncan et al. (2001). Macular pigment and lutein supplementation in retinitis pigmentosa and Usher syndrome. Invest. Ophthalmol. Vis. Sci. 42(8) 1873-1881. 

Usher syndrome is a deafness-blindness syndrome that is caused by mutations in a number of genes [29]. Usher syndrome is divided into three classes depending on the severity of the phenotype Usher I produces profound deafness and vestibular dysfunction, as well as adolescent blindness in Usher II, deafness is less profound. User III is less common in these patients, hearing and vision loss develop progressively, and vestibular dysfunction is variable. 

LamG (Jelly Usher syndrome type type S, coelicolor LamG domain PSI-BLAST (3) 2 X lO 4 Human Usher syndrome... 

A characteristic is the appearance of "nemaline bodies" or thickened Z-discs containing Z-disc proteins. Some hereditary diseases involve nonmuscle myosins. Among these is Usher syndrome, the commonest cause of deaf-blindness. The disease, which results from a defect in the myosin VIA gene, typically causes impairment of hearing and retinitis pigmentosa (Chapter 23).hh... 

Di Palma, F., Holme, R.H., Bryda, E.C., Belyantseva, I.A., Pellegrino, R., Kachar, B., Steel, K.P., Noben-Trauth, K., 2001, Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type ID. Nat Genet 27, 103-107. 

Usher syndrome (USH) interactome and USHprotein complexes in photoreceptor cilia. 

Ebermann, 1., Scholl, H.P., Charbel Issa, P, Becirovic, E., Lamprecht, J., Jurklies, B., Millan, J.M., Aller, E., Mitter, D. and Bolz, H. (2007) A novel gene for Usher syndrome type 2 mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. Hum. Genet. 727, 203-211. 

Reiners, J., Marker, T., Jurgens, K., Reidel, B. and Wolfmm, U. (2005a) Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USHIF) and its interaction with the scaffold protein harmonin (USHIC). Mol. Vis. 11, 347-355. 

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