Wilson disease

A Członkowska, T Litwin, P Dusek, P Ferenci… - Nature reviews Disease …, 2018 - nature.com
Wilson disease (WD) is a potentially treatable, inherited disorder of copper metabolism that
is characterized by the pathological accumulation of copper. WD is caused by mutations in …

Role of glutathione in the regulation of epigenetic mechanisms in disease

JL García-Giménez, C Romá-Mateo… - Free Radical Biology …, 2017 - Elsevier
Epigenetics is a rapidly growing field that studies gene expression modifications not
involving changes in the DNA sequence. Histone H3, one of the basic proteins in the …

Combined effects of polystyrene microplastics and natural organic matter on the accumulation and toxicity of copper in zebrafish

R Qiao, K Lu, Y Deng, H Ren, Y Zhang - Science of the Total Environment, 2019 - Elsevier
As emerging contaminants, microplastics (MPs) are predicted to act as vectors for other
contaminants and their combined effects are largely unknown. In this study, the combined …

Designing anticancer copper (II) complexes by optimizing 2-pyridine-thiosemicarbazone ligands

J Deng, P Yu, Z Zhang, J Wang, J Cai, N Wu… - European Journal of …, 2018 - Elsevier
To develop potential next-generation metal anticancer agents, we designed and
synthesised five Cu (II) 2-pyridine-thiosemicarbazone complexes by modifying the hydrogen …

Structure-function relationships in methionine adenosyltransferases

GD Markham, MA Pajares - Cellular and molecular life sciences, 2009 - Springer
Methionine adenosyltransferases (MATs) are the family of enzymes that synthesize the main
biological methyl donor, S-adenosylmethionine. The high sequence conservation among …

[HTML][HTML] Wilson's Disease—Crossroads of Genetics, Inflammation and Immunity/Autoimmunity: Clinical and Molecular Issues

G Gromadzka, J Czerwińska, E Krzemińska… - International Journal of …, 2024 - mdpi.com
Wilson's disease (WD) is a rare, autosomal recessive disorder of copper metabolism caused
by pathogenic mutations in the ATP7B gene. Cellular copper overload is associated with …

[HTML][HTML] Genetics and epigenetic factors of Wilson disease

V Medici, JM LaSalle - Annals of Translational Medicine, 2019 - ncbi.nlm.nih.gov
Wilson disease (WD) is a complex condition due to copper accumulation mainly in the liver
and brain. The genetic base of WD is represented by pathogenic mutations of the copper …

[PDF][PDF] Wilson's disease: changes in methionine metabolism and inflammation affect global DNA methylation in early liver disease

V Medici, NM Shibata, KK Kharbanda, JM LaSalle… - …, 2013 - Wiley Online Library
Hepatic methionine metabolism may play an essential role in regulating methylation status
and liver injury in Wilson's disease (WD) through the inhibition of S‐adenosylhomocysteine …

[HTML][HTML] Acid sphingomyelinase-ceramide system in steatohepatitis: a novel target regulating multiple pathways

C Garcia-Ruiz, JM Mato, D Vance, N Kaplowitz… - Journal of …, 2015 - Elsevier
Steatohepatitis (SH) is an intermediate stage of fatty liver disease and is one of the most
common causes of chronic liver disease worldwide that may progress to cirrhosis and liver …

[HTML][HTML] Folic acid deficiency induces premature hearing loss through mechanisms involving cochlear oxidative stress and impairment of homocysteine metabolism

R Martínez-Vega, F Garrido, T Partearroyo… - The FASEB …, 2015 - ncbi.nlm.nih.gov
Nutritional imbalance is emerging as a causative factor of hearing loss. Epidemiologic
studies have linked hearing loss to elevated plasma total homocysteine (tHcy) and folate …