The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression

Cellular and Molecular Life Sciences

Volumn 69, Issue 1, 2012, Pages 149-163

  Vonk, Willianne I M ^a   De Bie, Prim ^a,b   Wichers, Catharina G K ^a   Van Den Berghe, Peter V E ^a,c   Van Der Plaats, Rozemarijn ^a   Berger, Ruud ^a   Wijmenga, Cisca ^a,d   Klomp, Leo W J ^a   Van De Sluis, Bart ^d  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c BEATSON INSTITUTE FOR CANCER RESEARCH   (United Kingdom)

^d UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

ATP7A; COMMD1; Copper; Menkes disease; Pharmacological chaperones; Protein folding

Indexed keywords

COPPER; COPPER METABOLISM MURR1 CONTAINING DOMAIN 1 PROTEIN; MENKES PROTEIN; REGULATOR PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; ATP DEPENDENT COPPER TRANSPORTER 7A GENE; BINDING AFFINITY; BINDING SITE; CELL PROLIFERATION; CELL SURFACE; CELLULAR DISTRIBUTION; CONFOCAL LASER MICROSCOPY; CONTROLLED STUDY; COPPER METABOLISM; DISEASE ASSOCIATION; GENE FUNCTION; GENE IDENTIFICATION; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IMMUNOFLUORESCENCE TEST; INTERMETHOD COMPARISON; MENKES SYNDROME; MOLECULAR DYNAMICS; MOLECULAR INTERACTION; MOLECULAR PATHOLOGY; MUTATOR GENE; PROTEIN BINDING; PROTEIN DEGRADATION; PROTEIN DETERMINATION; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN FUNCTION; PROTEIN LOCALIZATION; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TEMPERATURE DEPENDENCE; WILD TYPE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOSINE TRIPHOSPHATASES; ANIMALS; CATION TRANSPORT PROTEINS; CELL CULTURE TECHNIQUES; CELL LINE, TUMOR; COPPER; DOGS; GOLGI APPARATUS; HEK293 CELLS; HUMANS; MENKES KINKY HAIR SYNDROME; MICE; MUTATION; PROTEIN FOLDING; PROTEIN TRANSPORT; PROTEOLYSIS; TEMPERATURE;

EID: 84856232154     PISSN: 1420682X     EISSN: 14209071     Source Type: Journal    
DOI: 10.1007/s00018-011-0743-1     Document Type: Article

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