Article
Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer.
Molecular therapy : the journal of the American Society of Gene Therapy - 1 Oct 2005
Surace Enrico Maria, Domenici Luciano, Cortese Katia, Cotugno Gabriella, Di Vicino Umberto, Venturi Consuelo, Cellerino Alessandro, Marigo Valeria, Tacchetti Carlo, Ballabio Andrea, Auricchio Alberto
Abstract excerpt
X-linked recessive ocular albinism type I (OA1) is due to mutations in the OA1 gene (approved gene symbol GPR143), which is expressed in the retinal pigment epithelium (RPE). The Oa1 (Gpr143) knockout mouse (Oa1(-/-)) model recapitulates many of the OA1 retinal morphological anomalies, including a lower number of melanosomes of increased size in the RPE. The Oa1(-/-) mouse also displays some of the retinal...
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