Ontology highlight
ABSTRACT:
SUBMITTER: Soni LE
PROVIDER: S-EPMC1201382 | biostudies-literature | 2005 Sep
REPOSITORIES: biostudies-literature
Soni Lily E LE Warren Carmen M CM Bucci Cecilia C Orten Dana J DJ Hasson Tama T
Cell motility and the cytoskeleton 20050901 1
Mutations in the myosin-VIIa (MYO7a) gene cause human Usher disease, characterized by hearing impairment and progressive retinal degeneration. In the retina, myosin-VIIa is highly expressed in the retinal pigment epithelium, where it plays a role in the positioning of melanosomes and other digestion organelles. Using a human cultured retinal pigmented epithelia cell line, ARPE-19, as a model system, we have found that a population of myosin-VIIa is associated with cathepsin D- and Rab7-positive ...[more]