ATP7A-Regulated Enzyme Metalation and Trafficking in the Menkes Disease Puzzle.

ABSTRACT: Copper is vital for numerous cellular functions affecting all tissues and organ systems in the body. The copper pump, ATP7A is critical for whole-body, cellular, and subcellular copper homeostasis, and dysfunction due to genetic defects results in Menkes disease. ATP7A dysfunction leads to copper deficiency in nervous tissue, liver, and blood but accumulation in other tissues. Site-specific cellular deficiencies of copper lead to loss of function of copper-dependent enzymes in all tissues, and the range of Menkes disease pathologies observed can now be explained in full by lack of specific copper enzymes. New pathways involving copper activated lysosomal and steroid sulfatases link patient symptoms usually related to other inborn errors of metabolism to Menkes disease. Additionally, new ro

SUBMITTER: Horn N 

PROVIDER: S-EPMC8067471 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature