Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus

Human Molecular Genetics

Volumn 11, Issue 7, 2002, Pages 779-789

  Marr, Nannette ^a   Bichet, Daniel G ^b   Lonergan, Michele ^b   Arthus, Marie Francoise ^b   Jeck, Nikola ^c   Seyberth, Hannsjörg W ^c   Rosenthal, Walter ^e   Van Os, Carel H ^a   Oksche, Alexander ^d   Deen, Peter M T ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b HÔPITAL DU SACRÉ COEUR DE MONTRÉAL   (Canada)

^c UNIVERSITY HOSPITAL MARBURG   (Germany)

^d LEIBNIZ INSTITUT FÜR MOLEKULARE PHARMAKOLOGIE   (Germany)

^e Institut fur Pharmakologie   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AQUAPORIN 2; MUTANT PROTEIN; VASOPRESSIN;

ADULT; ALLELE; ANIMAL CELL; ARTICLE; BASOLATERAL MEMBRANE; CARBOXY TERMINAL SEQUENCE; CELL MEMBRANE; CONTROLLED STUDY; ENDOSOME; FEMALE; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GENE LOCATION; GENE MUTATION; GENE TARGETING; GENETIC ANALYSIS; GENETIC CODE; HORMONE RESPONSE; HUMAN; KIDNEY CONCENTRATING CAPACITY; KIDNEY EPITHELIUM; LYSOSOME; MALE; NEPHROGENIC DIABETES INSIPIDUS; NONHUMAN; NUCLEOTIDE SEQUENCE; OLIGOMERIZATION; OOCYTE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; WATER PERMEABILITY;

ANIMALIA;

EID: 0036537523     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/11.7.779     Document Type: Article

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