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View article: Golgi-Dependent Copper Homeostasis Sustains Synaptic Development and Mitochondrial Content
Golgi-Dependent Copper Homeostasis Sustains Synaptic Development and Mitochondrial Content Open
Rare genetic diseases preponderantly affect the nervous system with phenotypes spanning from neurodegeneration to neurodevelopmental disorders. This is the case for both Menkes and Wilson disease, arising from mutations in ATP7A and ATP7B,…
View article: Activation of Autophagy, Observed in Liver Tissues From Patients With Wilson Disease and From ATP7B-Deficient Animals, Protects Hepatocytes From Copper-Induced Apoptosis
Activation of Autophagy, Observed in Liver Tissues From Patients With Wilson Disease and From ATP7B-Deficient Animals, Protects Hepatocytes From Copper-Induced Apoptosis Open
View article: HSP70 as a Target for Correction of Wilson Disease Causing ATP7B Mutants
HSP70 as a Target for Correction of Wilson Disease Causing ATP7B Mutants Open
Copper (Cu) is an essential micronutrient, which operates as a cofactor of enzymes regulating a wide range of critical physiological processes. However, Cu overload compromises the redox balance in cells and tissues causing serious toxicit…
View article: The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders
The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders Open
The deleterious effects of a disrupted copper metabolism are illustrated by hereditary diseases caused by mutations in the genes coding for the copper transporters ATP7A and ATP7B. Menkes disease, involving ATP7A, is a fatal neurodegenerat…
View article: Identification of p38 MAPK and JNK as new targets for correction of Wilson disease‐causing ATP7B mutants
Identification of p38 MAPK and JNK as new targets for correction of Wilson disease‐causing ATP7B mutants Open
Wilson disease (WD) is an autosomal recessive disorder that is caused by the toxic accumulation of copper (Cu) in the liver. The ATP7B gene, which is mutated in WD, encodes a multitransmembrane domain adenosine triphosphatase that traffics…