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Article

Genetic ablation of Pals1 in retinal progenitor cells models the retinal pathology of Leber congenital amaurosis

7 Mar 2012

Abstract excerpt

Mutation of the polarity gene Crumbs homolog 1 (CRB1) is responsible for >10% of Leber congenital amaurosis (LCA) cases worldwide; LCA is characterized by early-onset degenerative retinal dystrophy. The role of CRB1 in LCA8 pathogenesis remains elusive since Crb1 mouse mutants, including a null allele, have failed to mimic the early-onset of LCA, most likely due to functional compensation by closely related genes...

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PMID: 22398208
DOI: 10.1093/hmg/dds091

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