Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum

Human Molecular Genetics

Volumn 18, Issue 16, 2009, Pages 2963-2974

  Williams, Siân ^a   Reed, Anita A C ^a   Galvanovskis, Juris ^a   Antignac, Corinne ^b,c   Goodship, Tim ^d   Karet, Fiona E ^e   Kotanko, Peter ^f   Lhotta, Karl ^g   Morinière, Vincent ^b   Williams, Paul ^h   Wong, William ⁱ   Rorsman, Patrik ^a   Thakker, Rajesh V ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e ADDENBROOKE S HOSPITAL   (United Kingdom)

^f RENAL RESEARCH INSTITUTE   (United States)

^g ACADEMIC TEACHING HOSPITAL FELDKIRCH   (Austria)

^h IPSWICH HOSPITAL   (United Kingdom)

ⁱ STARSHIP CHILDREN S HOSPITAL   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ASPARAGINE; ASPARTIC ACID; CYSTEINE; GLYCINE; MUTANT PROTEIN; TAMM HORSFALL GLYCOPROTEIN;

ADULT; ARTICLE; CELL MEMBRANE; CELLULAR DISTRIBUTION; CLINICAL ARTICLE; CONFOCAL MICROSCOPY; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; GENE EXPRESSION; GENE MUTATION; HELA CELL; HUMAN; HUMAN CELL; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN PROCESSING; PROTEIN SECRETION; PROTEIN TRANSPORT; URIC ACID NEPHROPATHY; WESTERN BLOTTING; ZONA PELLUCIDA;

ADOLESCENT; ADULT; AGED; ENDOPLASMIC RETICULUM; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HELA CELLS; HUMANS; HYPERURICEMIA; MALE; MIDDLE AGED; MUCOPROTEINS; MUTATION, MISSENSE; PEDIGREE; PROTEIN FOLDING; PROTEIN TRANSPORT; YOUNG ADULT;

EID: 68049084873     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp235     Document Type: Article

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