The G215R mutation in the Cl-/H+-antiporter CLC-7 found in ADO II osteopetrosis does not abolish function but causes a severe trafficking defect

PLoS ONE

Volumn 5, Issue 9, 2010, Pages 1-9

  Schulz, Patrick ^a   Werner, Johannes ^a   Stauber, Tobias ^b   Henriksen, Kim ^c   Fendler, Klaus ^a  

^a MAX PLANCK INSTITUTE OF BIOPHYSICS   (Germany)

^b MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^c NORDIC BIOSCIENCE A S   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIPORTER; CHLORIDE HYDROGEN ANTIPORTER; CHLORIDE HYDROGEN ANTIPORTER CIC 7; UNCLASSIFIED DRUG; CHLORIDE CHANNEL; CLCN7 PROTEIN, RAT; CLCNKA PROTEIN, HUMAN;

ALBERS SCHOENBERG DISEASE; ANIMAL CELL; ARTICLE; CELL TRANSPORT; CELLULAR DISTRIBUTION; CHO CELL; CONTROLLED STUDY; ELECTROPHYSIOLOGY; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; LYSOSOME MEMBRANE; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PROTEIN LOCALIZATION; RAT; VALIDATION PROCESS; ANIMAL; CELL LINE; CRICETULUS; GENETICS; HAMSTER; LYSOSOME; METABOLISM; MISSENSE MUTATION; PROTEIN TRANSPORT;

MAMMALIA; RATTUS;

ANIMALS; CELL LINE; CHLORIDE CHANNELS; CHO CELLS; CRICETINAE; CRICETULUS; HUMANS; LYSOSOMES; MUTATION, MISSENSE; OSTEOPETROSIS; PROTEIN TRANSPORT; RATS;

EID: 77958581404     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0012585     Document Type: Article

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