[HTML][HTML] Copper homeostasis and copper-induced cell death in the pathogenesis of cardiovascular disease and therapeutic strategies

X Chen, Q Cai, R Liang, D Zhang, X Liu, M Zhang… - Cell death & …, 2023 - nature.com
Copper is a vital mineral, and an optimal amount of copper is required to support normal
physiologic processes in various systems, including the cardiovascular system. Over the …

[HTML][HTML] Wilson's disease: an update on the diagnostic workup and management

B Kasztelan-Szczerbinska, H Cichoz-Lach - Journal of clinical medicine, 2021 - mdpi.com
Wilson's disease (WD) is a rare autosomal recessive disorder of hepatocellular copper
deposition. The diagnostic approach to patients with WD may be challenging and is based …

Wilson's disease: A 2017 update

A Poujois, F Woimant - Clinics and research in hepatology and …, 2018 - Elsevier
Wilson's disease (WD) is characterised by a deleterious accumulation of copper in the liver
and brain. It is one of those rare genetic disorders that benefits from effective and lifelong …

[HTML][HTML] Methanobactin reverses acute liver failure in a rat model of Wilson disease

J Lichtmannegger, C Leitzinger… - The Journal of …, 2016 - Am Soc Clin Investig
In Wilson disease (WD), functional loss of ATPase copper-transporting β (ATP7B) impairs
biliary copper excretion, leading to excessive copper accumulation in the liver and fulminant …

Long-term metabolic correction of Wilson's disease in a murine model by gene therapy

O Murillo, DM Luqui, C Gazquez… - Journal of …, 2016 - Elsevier
Background & Aims Wilson's disease (WD) is an autosomal recessively inherited copper
storage disorder due to mutations in the ATP7B gene that causes hepatic and neurologic …

Liver transplantation as a rescue therapy for severe neurologic forms of Wilson disease

A Poujois, R Sobesky, WG Meissner, AS Brunet… - Neurology, 2020 - AAN Enterprises
Objective To evaluate the effect of liver transplantation (LT) in patients with Wilson disease
(WD) with severe neurologic worsening resistant to active chelation. Methods French …

Liver pathology in Wilson's disease: From copper overload to cirrhosis

C Gerosa, D Fanni, T Congiu, M Piras, F Cau… - Journal of inorganic …, 2019 - Elsevier
Wilson's disease (WD) is a genetic metabolic disease strictly associated with liver cirrhosis.
In this review, the genetic bases of the disease are discussed, with emphasis on the role of …

[HTML][HTML] Serum neurofilament light chain and initial severity of neurological disease predict the early neurological deterioration in Wilson's disease

T Ziemssen, L Smolinski, A Członkowska… - Acta Neurologica …, 2023 - Springer
Abstract Background In Wilson's disease (WD), early neurological deterioration after
treatment initiation is associated with poor outcomes; however, data on this phenomenon …

Serum neurofilament light chain as a biomarker of brain injury in Wilson's disease: Clinical and neuroradiological correlations

T Ziemssen, K Akgun, A Członkowska… - Movement …, 2022 - Wiley Online Library
Background Clinical scales and neuroimaging are used to monitor nervous system injury in
Wilson's disease, while data on serum markers are scarce. Objective To investigate whether …

[PDF][PDF] Pregnancy in Wilson's disease: management and outcome

J Pfeiffenberger, S Beinhardt, DN Gotthardt… - …, 2018 - Wiley Online Library
Wilson's disease (WD) is a rare inherited disorder of copper metabolism causing toxic
hepatic and neural copper accumulation. Clinical symptoms vary widely, from asymptomatic …