Investigation of the copper binding sites in the Menkes disease protein, ATP7A
✍ Scribed by P. Y. Jensen; N. Bonander; B. G. Karlsson; N. Horn; Z. Tümer; O. Farver
- Book ID
- 110222834
- Publisher
- Springer
- Year
- 1998
- Tongue
- English
- Weight
- 168 KB
- Volume
- 21
- Category
- Article
- ISSN
- 0141-8955
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📜 SIMILAR VOLUMES
Menkes disease is an X-linked, recessive disorder of copper metabolism that occurs in approximately 1 in 200,000 live births. The condition is characterized by skeletal abnormalities, severe mental retardation, neurologic degeneration, and patient mortality in early childhood. The symptoms of Menkes
ATP7B is a copper transporting P-type ATPase defective in the autosomal recessive copper storage disorder, Wilson disease (WND). Functional assessment of variants helps to distinguish normal from disease-causing variants and provides information on important amino acid residues. A total of 11 missen
## Abstract Proteins of approximately 10,000 daltons (presumably metallothionein) and greater than 75,000 daltons bound ^64^Cu when this metal was added to fibroblast lysates. Treatment with either 2‐mercaptoethanol or the disodium salt of ethylenediamine tetraacetic acid demonstrated that the high