Functional evaluation of Dent's disease-causing mutations: Implications for ClC-5 channel trafficking and internalization

Human Genetics

Volumn 117, Issue 2-3, 2005, Pages 228-237

  Ludwig, Michael ^a   Doroszewicz, Jolanta ^b   Seyberth, Hannsjörg W ^b   Bökenkamp, Arend ^c   Balluch, Bernd ^d   Nuutinen, Matti ^e   Utsch, Boris ^f   Waldegger, Siegfried ^b  

^a UNIVERSITY OF BONN   (Germany)

^b PHILIPPS UNIVERSITY MARBURG   (Germany)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d Gottfried von Preyer'sches Kinderspital   (Austria)

^e OULU UNIVERSITY HOSPITAL   (Finland)

^f UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

Chloride channel 5; Dent's disease; Golgi apparatus; Mutation; Trafficking

Indexed keywords

CHLORIDE CHANNEL; CHLORIDE CHANNEL 5; COMPLEMENTARY DNA; MUTANT PROTEIN; RECOMBINANT PROTEIN; UNCLASSIFIED DRUG; CLC 5 CHLORIDE CHANNEL; CLC-5 CHLORIDE CHANNEL;

ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL MEMBRANE TRANSPORT; CHLORIDE CURRENT; CONTROLLED STUDY; DENT DISEASE; ENZYME LINKED IMMUNOSORBENT ASSAY; GENE MUTATION; GENETIC VARIABILITY; GOLGI COMPLEX; HETEROLOGOUS EXPRESSION; HUMAN; KIDNEY DISEASE; OOCYTE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SITE DIRECTED MUTAGENESIS; STATISTICAL SIGNIFICANCE; STOP CODON; VOLTAGE CLAMP; XENOPUS; ANIMAL; CELL MEMBRANE; GENE DELETION; GENE EXPRESSION; GENETICS; KIDNEY CALCIFICATION; KIDNEY FAILURE; METABOLISM; MOLECULAR CLONING; POINT MUTATION; PROTEIN SECONDARY STRUCTURE; PROTEIN TRANSPORT; PROTEINURIA; X CHROMOSOME LINKED DISORDER;

ANIMALS; CELL MEMBRANE; CHLORIDE CHANNELS; CLONING, MOLECULAR; GENE EXPRESSION; GENETIC DISEASES, X-LINKED; HUMANS; KIDNEY FAILURE; MUTAGENESIS, SITE-DIRECTED; NEPHROCALCINOSIS; OOCYTES; POINT MUTATION; PROTEIN STRUCTURE, SECONDARY; PROTEIN TRANSPORT; PROTEINURIA; SEQUENCE DELETION; XENOPUS;

EID: 26944433471     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-005-1303-2     Document Type: Article

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