6533b7dbfe1ef96bd126ff44

RESEARCH PRODUCT

The Role of Cadherins in Ca2+-Mediated Cell Adhesion and Inherited Photoreceptor Degeneration

Uwe WolfrumHanno J. BolzAndreas GalJan Reiners

subject

CadherinUsher syndromeMacular dystrophyBiologymedicine.diseasePhenotypeTransmembrane proteinCell biologyRetinitis pigmentosaotorhinolaryngologic diseasesmedicineHypotrichosissense organsCell adhesion

description

Cadherins are Ca2+-binding, transmembrane proteins involved in cell adhesion. Recently, three cadherin molecules, cadherin-23, protocadherin-15, and cadherin-3, were found to be defective in various human diseases, many of them with photoreceptor degeneration and/or sensorineural hearing loss as major features such Usher syndrome type 1D (USH1D), USH1F, and hypotrichosis with juvenile macular dystrophy. The process, by which mutations lead to photoreceptor degeneration is still not fully understood. Data from the inner ear phenotype of USH1 mouse models suggest that loss of cell adhesion is a crucial event.

yearjournalcountryeditionlanguage
2002-01-01
https://doi.org/10.1007/978-1-4615-0121-3_24