Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesion
SS Kumari, J Gandhi, MH Mustehsan, S Eren… - Experimental eye …, 2013 - Elsevier
Abstract Aquaporin 0 (AQP0) performs dual functions in the lens fiber cells, as a water pore
and as a cell-to-cell adhesion molecule. Mutations in AQP0 cause severe lens cataract in
both humans and mice. An arginine to cysteine missense mutation at amino acid 33 (R33C)
produced congenital autosomal dominant cataract in a Chinese family for five generations.
We re-created this mutation in wild type human AQP0 (WT-AQP0) cDNA by site-directed
mutagenesis, and cloned and expressed the mutant AQP0 (AQP0-R33C) in heterologous …
and as a cell-to-cell adhesion molecule. Mutations in AQP0 cause severe lens cataract in
both humans and mice. An arginine to cysteine missense mutation at amino acid 33 (R33C)
produced congenital autosomal dominant cataract in a Chinese family for five generations.
We re-created this mutation in wild type human AQP0 (WT-AQP0) cDNA by site-directed
mutagenesis, and cloned and expressed the mutant AQP0 (AQP0-R33C) in heterologous …
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