The molecular and cellular basis of copper dysregulation and its relationship with human pathologies

MT Maung, A Carlson, M Olea‐Flores… - The FASEB …, 2021 - Wiley Online Library
Copper (Cu) is an essential micronutrient required for the activity of redox‐active enzymes
involved in critical metabolic reactions, signaling pathways, and biological functions …

Inherited copper transport disorders: biochemical mechanisms, diagnosis, and treatment

H Kodama, C Fujisawa… - Current drug …, 2012 - ingentaconnect.com
Copper is an essential trace element required by all living organisms. Excess amounts of
copper, however, results in cellular damage. Disruptions to normal copper homeostasis are …

Wilson's disease: facing the challenge of diagnosing a rare disease

A Sánchez-Monteagudo, E Ripollés, M Berenguer… - Biomedicines, 2021 - mdpi.com
Wilson disease (WD) is a rare disorder caused by mutations in ATP7B, which leads to the
defective biliary excretion of copper. The subsequent gradual accumulation of copper in …

Therapeutic implications of impaired nuclear receptor function and dysregulated metabolism in Wilson's disease

CR Wooton-Kee - Pharmacology & Therapeutics, 2023 - Elsevier
Copper is an essential trace element that is required for the activity of many enzymes and
cellular processes, including energy homeostasis and neurotransmitter biosynthesis; …

[HTML][HTML] The role of copper in Alzheimer's disease etiopathogenesis: An updated systematic review

A Sabalic, V Mei, G Solinas, R Madeddu - Toxics, 2024 - mdpi.com
Background: Alzheimer's disease (AD) is the most common cause of dementia and cognitive
decline in the elderly. Although the etiology of AD is unknow, an increase in amyloid …

Canine models of copper toxicosis for understanding mammalian copper metabolism

H Fieten, PAJ Leegwater, AL Watson, J Rothuizen - Mammalian genome, 2012 - Springer
Hereditary forms of copper toxicosis exist in man and dogs. In man, Wilson's disease is the
best studied disorder of copper overload, resulting from mutations in the gene coding for the …

Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis

M Bost, G Piguet-Lacroix, F Parant… - Journal of trace elements in …, 2012 - Elsevier
ATP7B mutations result in Cu storage in the liver and brain in Wilson disease (WD). Atox1
and COMMD1 were found to interact with ATP7B and involved in copper transport in the …

[HTML][HTML] COMMD1, a multi-potent intracellular protein involved in copper homeostasis, protein trafficking, inflammation, and cancer

R Weiskirchen, LC Penning - Journal of Trace Elements in Medicine and …, 2021 - Elsevier
Copper is a trace element indispensable for life, but at the same time it is implicated in
reactive oxygen species formation. Several inherited copper storage diseases are described …

Genetic defects in Indian Wilson disease patients and genotype–phenotype correlation

S Mukherjee, S Dutta, S Majumdar, T Biswas… - Parkinsonism & related …, 2014 - Elsevier
Wilson disease (WD) is caused by defects in ATP7B gene due to impairment of normal
function of the copper transporting P-type ATPase. This study describes a comprehensive …

Non-ceruloplasmin copper distincts subtypes in Alzheimer's disease: a genetic study of ATP7B frequency

R Squitti, M Ventriglia, M Gennarelli, NA Colabufo… - Molecular …, 2017 - Springer
Meta-analyses show that serum copper non-bound-to-ceruloplasmin (non-Cp-Cu) is higher
in patients with Alzheimer's disease (AD). ATP7B gene variants associate with AD …