Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease

Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease

ATP7A mutations impair copper metabolism resulting in three distinct genetic disorders in humans. These diseases are characterized by neurological phenotypes ranging from intellectual disability to neurodegeneration. Severe ATP7A loss-of-function alleles trigger Menkes disease, a copper deficiency c...

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Bibliographic Details
Main Authors: Stephanie Zlatic, Heather Skye Comstra, Avanti Gokhale, Michael J. Petris, Victor Faundez
Format: Article
Language:English
Published: Elsevier 2015-09-01
Series:Neurobiology of Disease
Subjects:
Copper
Metal
Menkes
ATP7A
Neurodegeneration
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996114003957

Internet

http://www.sciencedirect.com/science/article/pii/S0969996114003957

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