A novel mechanism in recessive nephrogenic diabetes insipidus: Wild-type aquaporin-2 rescues the apical membrane expression of intracellulary retained AQP2-P262L

Human Molecular Genetics

Volumn 13, Issue 24, 2004, Pages 3045-3056

  de Mattia, Fabrizio ^a   Savelkoul, Paul J M ^a   Bichet, Daniel G ^b   Kamsteeg, Eric Jan ^a   Konings, Irene B M ^a   Marr, Nannette ^a   Arthus, Marie Françoise ^b   Lonergan, Michèle ^b   van Os, Carel H ^a   van der Sluijs, Peter ^c   Robertson, Gary ^d   Deen, Peter M T ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b HÔPITAL DU SACRÉ COEUR DE MONTRÉAL   (Canada)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d NORTHWESTERN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AQUAPORIN 2; VASOPRESSIN; WATER;

ANIMAL CELL; APICAL MEMBRANE; ARTICLE; CELL MEMBRANE; CELL POLARITY; CELL VACUOLE; CELLULAR DISTRIBUTION; CHILD; CONTROLLED STUDY; CYTOLOGY; DOMINANT INHERITANCE; ENDOPLASMIC RETICULUM; FAMILY STUDY; FEMALE; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOSITY; HOMEOSTASIS; HUMAN; HUMAN CELL; KIDNEY CELL; MALE; NEPHROGENIC DIABETES INSIPIDUS; NONHUMAN; OOCYTE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN INTERACTION; PROTEIN TARGETING; RECESSIVE INHERITANCE; WILD TYPE; XENOPUS LAEVIS;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; AQUAPORIN 2; AQUAPORINS; DIABETES INSIPIDUS, NEPHROGENIC; FEMALE; GENETIC HETEROGENEITY; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN STRUCTURE, SECONDARY; XENOPUS;

EID: 19944402481     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddh339     Document Type: Article

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