Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesion

Experimental Eye Research

Volumn 116, Issue , 2013, Pages 371-385

  Kumari, Sindhu S ^a   Gandhi, Jason ^a   Mustehsan, Mohammed H ^a   Eren, Semih ^a   Varadaraj, Kulandaiappan ^a  

^a STONY BROOK UNIVERSITY   (United States)

Author keywords

AQP0; Cell to cell adhesion; Congenital cataract; Connexin 50; Trafficking; Water channel; Water permeability

Indexed keywords

AQUAPORIN; AQUAPORIN 0; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CELL ADHESION; CELL AGGREGATION; CONGENITAL CATARACT; CONTROLLED STUDY; GAP JUNCTION; MISSENSE MUTATION; NONHUMAN; OOCYTE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN FOLDING; SITE DIRECTED MUTAGENESIS; WATER PERMEABILITY; XENOPUS LAEVIS;

AQP0; AQP0-R33C; AQP1; AQUAPORIN 0 R33C MUTANT; AQUAPORIN 1; CELL-TO-CELL ADHESION; CONGENITAL CATARACT; CONNEXIN 50; FORSTER RESONANCE ENERGY TRANSFER; FRET; PW; TRAFFICKING; WATER CHANNEL; WATER PERMEABILITY; WILD TYPE HUMAN AQUAPORIN 0; WT-AQP0;

ANIMALS; AQUAPORINS; CATARACT; CELL ADHESION; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; HUMANS; LENS, CRYSTALLINE; MICE; MUTATION, MISSENSE; RNA; XENOPUS;

EID: 84887510016     PISSN: 00144835     EISSN: 10960007     Source Type: Journal    
DOI: 10.1016/j.exer.2013.09.019     Document Type: Article

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