Functional impairment of lens aquaporin in two families with dominantly inherited cataracts
Francis P, Chung JJ, Yasui M, Berry V, Moore A, Wyatt MK, Wistow G, Bhattacharya SS, Agre P. Functional impairment of lens aquaporin in two families with dominantly inherited cataracts. Human Molecular Genetics 2000, 9: 2329-2334. PMID: 11001937, DOI: 10.1093/oxfordjournals.hmg.a018925.Peer-Reviewed Original ResearchConceptsAQP0 proteinMutant proteinsWater channel activityDominant-negative behaviorOocyte plasma membraneOocyte expression systemXenopus laevis oocyte expression systemLens aquaporinsDifferent point mutationsPlasma membraneExpression systemSevere defectsPoint mutationsMissense mutationsProteinChannel activityAQP2 proteinRecessive traitFunctional defectsPathophysiological relevanceMutationsCongenital cataractFamilyCataract formationAQP0