Chapter 10 Hereditary Disorders of Copper Metabolism
作者： Zeynep Tümer , Nina Horn
DOI: 10.1016/S1566-3124(08)60030-9
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摘要: Publisher Summary This chapter discusses the hereditary disorders of copper metabolism. Copper is an indispensable trace element with profound influence on neurological development and function through its role in normal activity several important enzymes, including dopamine β-hydroxylase, cytochrome c oxidase, superoxide dismutase. On other hand, has detrimental effects excess. A fine regulation levels is, therefore, essential for all biological systems from bacteria to yeast, human. In past half decade, tremendous knowledge about intracellular metabolism been accumulated. Today, people are aware eight proteins involved transport homeostasis. Apart genes coding metallothioneins, these were identified only very recently, following cloning defective Menkes Wilson diseases. These two inherited reflect contradictory copper, being essential, yet toxic element.
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