PDZ domains are highly abundant protein–protein interaction modules and are often found
in multidomain scaffold proteins. PDZ-domain-containing scaffold proteins regulate multiple …

Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss,
retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. It is clinically and …

Background Focal segmental glomerulosclerosis is a kidney disease that is manifested as
the nephrotic syndrome. It is often resistant to glucocorticoid therapy and progresses to end …

Retinal gene transfer with adeno-associated viral (AAV) vectors holds great promise for the
treatment of inherited retinal degenerations (IRDs). One limit of AAV is its transfer capacity of …

Background Usher syndrome (USH) is an autosomal recessive disorder comprising retinitis
pigmentosa, hearing loss and, in some cases, vestibular dysfunction. It is clinically and …

Whereas the mechanisms underlying hearing impairment in USH patients are being
unraveled, showing in particular that USH1 proteins are involved in the shaping of the hair …

Usher syndrome (USH), the most prevalent cause of hereditary deafness–blindness, is an
autosomal recessive and genetically heterogeneous disorder. Three clinical subtypes …

Many currently incurable forms of blindness affecting the retina have a genetic etiology and
several others, such as those resulting from retinal vascular disturbances, respond to …

Combined vision and hearing loss, also known as dual sensory impairment, can occur in
several genetic conditions, including ciliopathies such as Usher and Bardet-Biedl syndrome …

The hair-cell tip link, a fine filament directly conveying force to mechanosensitive
transduction channels, is composed of two proteins, protocadherin-15 and cadherin-23 …