Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022716 (Menkes)
 1,057 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A method is reported for isolation and purification of human ceruloplasmin and apoceruloplasmin from serum. It involves a rapid and mild procedure by ion exchange chromatography on DEAE-Sephacel using a pH and ionic strength concave gradient. It was applied to serum of patients with oculocutaneous albinism, Wilson's disease, Menkes' disease and pregnant women. The ceruloplasmin obtained by this method is undegraded, and homogeneous by physico-chemical and immunochemical analysis.
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PMID:Isolation and purification of ceruloplasmin in oculocutaneous albinism, Menkes' disease, Wilson's disease and pregnant women. 661 79

Menkes fibroblasts contain a significantly greater amount of cysteine-rich 10,000 dalton copper-binding protein(s) (metallotheionein) than normal cells. Mutant fibroblasts incorporated 30 to 40% more tritiated amino acids into 10,000 dalton protein(s) than normal cells. The protein(s) was deficient in aromatic amino acids The amount of 35S-cysteine incorporated by the same protein(s) in Menkes fibroblasts was twice that of normal fibroblasts. Comparison of the 35 S:3H isotopic ratios of chromatographic fractions of both normal and Menkes cell lysates showed that only the proteins eluted in the 10,000 dalton peak were enriched in 35S-cysteine, and this ratio was always greater than in Menkes than in normal cells. The 10,000 molecular weight 35S-cysteine- and 3H-amino acid-labeled peaks coincided with the 64Cu peak in both cell strains. The copper-labeled peak was always greater in Menkes than in normal cells. No difference in the 64Cu:35S isotopic ratio in the 10,000 dalton peak was observed between normal and Menkes fibroblast strains. This finding shows the direct relationship between the amount of cysteine-rich 10,000 dalton protein(s) and the amount of 64Cu bound by this protein(s) in both Menkes and normal fibroblasts. DEAE-cellulose ion-exchange chromatography resulted in a further two-fold enrichment of the 10,000 dalton, sulfur-rich proteins that were eluted from the Sephadex G-75 column. Most of the labeled proteins from both normal and Menkes fibroblasts were eluted from the ion-exchange column in a single peak at a chloride concentration of approximately 30 mM. Polyacrylamide disc gel electrophoresis of pooled fractions of the 10,000 dalton proteins eluted from the G-75 column and the DEAE-cellulose ion-exchange column showed no consistent differences in the staining pattern between normal and mutant fibroblast strains. When th acrylamide gels were sliced and subsequently counted for radioactive content, no band showed a further increase in the 35 S:3H isotopic ratio when compared to the electrophoresed samples that were eluted from the Sephadex G-75 or the ion-exchange columns. Also, no significant increase in the amount of radioactivity associated with a specific protein band could be demonstrated between the Menkes and the normal fibroblast strains.
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PMID:Increased copper metallothionein in Menkes cultured skin fibroblasts. 722 Jan 48

Copper and zinc concentrations, and the nature of the copper- and zinc-binding proteins, were studied using tissues from a Menkes patient who had been given intravenous infusions of cupric acetate. The liver and brain copper contents were lower than in an untreated, non-Menkes control, and the spleen, intestine and kidney showed higher copper concentrations than control tissues. Zinc concentrations in all the organs (except the kidneys) from the Menkes patient were slightly lower than those the control child. Using Sephadex G-75 column chromatography of cytosols (105,000 x g supernatant), three copper- and zinc-containing peaks were eluted. In all the Menkes tissues studied, copper was prominent in peak 3. On the other hand, peak 3 was the smallest and peak 1 was the largest in the control tissues. Zinc predominated in peak 1 in both Menkes and control tissues, except for Menkes kidney. In this tissue peak 3 was again the largest. The copper- and zinc-binding material in peak 3 fractions from Menkes kidney was chromatographed on DEAE-cellulose columns. Three copper- and zinc-containing peaks were observed at the same positions as metallothionein from human adult kidneys.
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PMID:Nature of copper and zinc compounds in tissues from a patient with Menkes kinky hair syndrome. 727 94