Current and emerging issues in Wilson's disease

EA Roberts, ML Schilsky - New England Journal of Medicine, 2023 - Mass Medical Soc
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Wilson's disease and other neurological copper disorders

O Bandmann, KH Weiss, SG Kaler - The Lancet Neurology, 2015 - thelancet.com
The copper metabolism disorder Wilson's disease was first defined in 1912. Wilson's
disease can present with hepatic and neurological deficits, including dystonia and …

A multidisciplinary approach to the diagnosis and management of Wilson disease: Executive summary of the 2022 Practice Guidance on Wilson disease from the …

ML Schilsky, EA Roberts, JM Bronstein, A Dhawan… - Hepatology, 2023 - journals.lww.com
Copper is an essential metal required for many metalloproteins' function. A fraction of dietary
copper (average 2–5 mg/day) is absorbed by enterocytes in the duodenum and proximal …

DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes

J Piñero, N Queralt-Rosinach, A Bravo, J Deu-Pons… - Database, 2015 - academic.oup.com
DisGeNET is a comprehensive discovery platform designed to address a variety of
questions concerning the genetic underpinning of human diseases. DisGeNET contains …

[HTML][HTML] West syndrome: a comprehensive review

P Pavone, A Polizzi, SD Marino, G Corsello… - Neurological …, 2020 - Springer
Since its first clinical description (on his son) by William James West (1793–1848) in 1841,
and the definition of the classical triad of (1) infantile spasms;(2) hypsarrhythmia, and (3) …

Mitochondria and reactive oxygen species in aging and age-related diseases

C Giorgi, S Marchi, ICM Simoes, Z Ren… - International review of …, 2018 - Elsevier
Aging has been linked to several degenerative processes that, through the accumulation of
molecular and cellular damage, can progressively lead to cell dysfunction and organ failure …

Copper and zinc dysregulation in Alzheimer's disease

SL Sensi, A Granzotto, M Siotto, R Squitti - Trends in Pharmacological …, 2018 - cell.com
Alzheimer's disease (AD) is one of the most common forms of dementia. Despite a wealth of
knowledge on the molecular mechanisms involved in AD, current treatments have mainly …

[HTML][HTML] Carleman estimates for semi-discrete parabolic operators and application to the controllability of semi-linear semi-discrete parabolic equations

F Boyer, J Le Rousseau - Annales de l'Institut Henri Poincare (C) Non …, 2014 - Elsevier
In arbitrary dimension, in the discrete setting of finite-differences we prove a Carleman
estimate for a semi-discrete parabolic operator, in which the large parameter is connected to …

Metabolism and functions of copper in brain

IF Scheiber, JFB Mercer, R Dringen - Progress in neurobiology, 2014 - Elsevier
Copper is an important trace element that is required for essential enzymes. However, due
to its redox activity, copper can also lead to the generation of toxic reactive oxygen species …

Altered copper homeostasis underlies sensitivity of hepatocellular carcinoma to copper chelation

CI Davis, X Gu, RM Kiefer, M Ralle, TP Gade… - Metallomics, 2020 - academic.oup.com
Hepatocellular carcinoma (HCC), the most common primary liver cancer, of which∼ 800
000 new cases will be diagnosed worldwide this year, portends a five-year survival rate of …