Experts and Doctors on usher syndromes in Paris, Île de France, France
Locale: Paris, Île de France, France
Topic: usher syndromes
Flores Guevara R, Renault F, Loundon N, Marlin S, Pelosse B, Momtchilova M, et al
. Usher syndrome type 1: early detection of electroretinographic changes. Eur J Paediatr Neurol. 2009;13:505-7 pubmed publisher
..Electroretinogram showed retinopathy in young children with Usher syndrome type 1, even in the absence of fundoscopic signs of retinal degeneration. ..
Bahloul A, Michel V, Hardelin J, Nouaille S, Hoos S, Houdusse A, et al
. Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids. Hum Mol Genet. 2010;19:3557-65 pubmed publisher
Bonnet C, El Amraoui A. Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches. Curr Opin Neurol. 2012;25:42-9 pubmed publisher
..Efforts to improve clinical diagnosis have been successful. Yet, despite some encouraging results, further development of therapeutic approaches is necessary to ultimately treat this dual sensory defect. ..
Papal S, Cortese M, Legendre K, Sorusch N, Dragavon J, Sahly I, et al
. The giant spectrin ?V couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route. Hum Mol Genet. 2013;22:3773-88 pubmed publisher
Schietroma C, Parain K, Estivalet A, Aghaie A, Boutet de Monvel J, Picaud S, et al
. Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment. J Cell Biol. 2017;216:1849-1864 pubmed publisher
..We propose that calyceal processes, together with their associated links, control the sizing of rod disks and cone lamellae throughout their daily renewal. ..
Adato A, Lefevre G, Delprat B, Michel V, Michalski N, Chardenoux S, et al
. Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells. Hum Mol Genet. 2005;14:3921-32 pubmed
..e. the disruption of hair bundle links-mediated adhesion forces that are essential for the proper organization of growing hair bundles. ..
Bonnet C, Grati M, Marlin S, Levilliers J, Hardelin J, Parodi M, et al
. Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis. 2011;6:21 pubmed publisher
..Based on these results, complete exon sequencing of the currently known USH genes stands as a definite improvement for molecular diagnosis of this disease, which is of utmost importance in the perspective of gene therapy. ..
Audo I, Bujakowska K, Mohand Said S, Tronche S, Lancelot M, Antonio A, et al
. A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family. Mol Vis. 2011;17:1598-606 pubmed
..This is the second report of DFNB31 implication in Usher type 2. ..
Sahly I, Dufour E, Schietroma C, Michel V, Bahloul A, Perfettini I, et al
. Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice. J Cell Biol. 2012;199:381-99 pubmed publisher
..We suggest that USH1 proteins form an adhesion belt around the basolateral region of the photoreceptor outer segment in humans, and that defects in this structure cause the retinal degeneration in USH1 patients. ..