A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase.
Kim
B-E
BE
Smith
K
K
Petris
M J
MJ
D000251:Adenosine Triphosphatases / Q000235:genetics / Q000378:metabolism*; D001692:Biological Transport / Q000187:drug effects / Q000235:genetics; D020126:Brefeldin A / Q000494:pharmacology; D027682:Cation Transport Proteins / Q000235:genetics / Q000378:metabolism*; D002460:Cell Line; D003300:Copper / Q000378:metabolism / Q000627:therapeutic use*; D000073840:Copper-Transporting ATPases; D006056:Golgi Apparatus / Q000378:metabolism; D006801:Humans; D007706:Menkes Kinky Hair Syndrome / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D008856:Microscopy, Fluorescence; D009154:Mutation; D010957:Plasmids / Q000235:genetics; D011993:Recombinant Fusion Proteins; D014162:Transfection
D027682:Cation Transport Proteins; D011993:Recombinant Fusion Proteins; D020126:Brefeldin A; D003300:Copper; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases