A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase.

Kim, B-E; Smith, K; Petris, M J

Kim, B-E; Smith, K; Petris, M J.

J Med Genet ; 40(4): 290-5, 2003 Apr.

Article in En | MEDLINE | ID: mdl-12676902

Subject(s)

Adenosine Triphosphatases/metabolism; Cation Transport Proteins/metabolism; Copper/therapeutic use; Menkes Kinky Hair Syndrome/genetics; Recombinant Fusion Proteins; Adenosine Triphosphatases/genetics; Biological Transport/drug effects; Biological Transport/genetics; Brefeldin A/pharmacology; Cation Transport Proteins/genetics; Cell Line; Copper/metabolism; Copper-Transporting ATPases; Golgi Apparatus/metabolism; Humans; Menkes Kinky Hair Syndrome/drug therapy; Menkes Kinky Hair Syndrome/metabolism; Microscopy, Fluorescence; Mutation; Plasmids/genetics; Transfection

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Recombinant Fusion Proteins / Adenosine Triphosphatases / Copper / Cation Transport Proteins / Menkes Kinky Hair Syndrome Type of study: Risk_factors_studies Limits: Humans Language: En Journal: J Med Genet Year: 2003 Type: Article

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