Arnal N, de Alaniz MJT, Marra CA (2012) Cytotoxic effects of copper overload on human-derived lung and liver cells in culture. Elsevier. https://doi.org/10.1016/j.bbagen.2012.03.007
Patwa J, Thakur A, Sharma A, Flora SJS (2020) Monoisoamyl DMSA reduced copper-induced neurotoxicity by lowering 8-OHdG level, amyloid beta and Tau protein expressions in Sprague-Dawley rats. Metallomics 12:1428–1448. https://doi.org/10.1039/D0MT00083C
Article CAS PubMed Google Scholar
Chaudhry H, Anilkumar A (2023) Wilson disease
Hepatology EAFTSOTL-J of (2012) EASL clinical practice guidelines: Wilson’s disease. Elsevier 56:671–685
Netter P, Bannwarth B, Péré P, Nicolas A (1987) Clinical pharmacokinetics of D-penicillamine. Clin Pharmacokinet 13:317–333. https://doi.org/10.2165/00003088-198713050-00003
Article CAS PubMed Google Scholar
Li W-J, Chen C, You Z-F et al (2016) Current drug managements of Wilson’s disease: from west to east. Curr Neuropharmacol 14:322. https://doi.org/10.2174/1570159X14666151130222427
Article CAS PubMed PubMed Central Google Scholar
Aronson J (2014) Meyler’s side effects of drugs 15E: the International Encyclopedia of Adverse Drug Reactions and Interactions
Rosenberg RN, Pascual JM (2020) Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease, 6th ed. Volume 1. Elsevier
Merle U, Schaefer M, Ferenci P, Stremmel W (2007) Clinical presentation, diagnosis and long-term outcome of Wilson’s disease: a cohort study. Gut 56:115–120. https://doi.org/10.1136/gut.2005.087262
Mhaske A, Sharma S, RS-J of DDS (2023) Nanotheranostic: the futuristic therapy for copper mediated neurological sequelae. Elsevier, pp. 1773–2247
Lutsenko S, Barnes NL, Bartee MY, Dmitriev OY (2007) Function and regulation of human copper-transporting ATPases. Physiol Rev 87:1011–1046. https://doi.org/10.1152/PHYSREV.00004.2006
Article CAS PubMed Google Scholar
Dmitriev O, Tsivkovskii R, Abildgaard F et al (2006) Solution structure of the N-domain of Wilson disease protein: distinct nucleotide-binding environment and effects of disease mutations. Proc Natl Acad Sci USA 103:5302–5307. https://doi.org/10.1073/PNAS.0507416103
Article CAS PubMed PubMed Central Google Scholar
Møller LB, Horn N, Jeppesen TD et al (2011) Clinical presentation and mutations in Danish patients with Wilson disease. Eur J Hum Genet 19:935–941. https://doi.org/10.1038/ejhg.2011.80
Caca K, Ferenci P, Kühn H et al (2001) High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype–genotype. Elsevier 35:575–581
Kim G-H, Kim KM, Kim J et al (2007) Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease. Hum Mutat 28:1108–1113. https://doi.org/10.1002/humu.20574
Article CAS PubMed Google Scholar
Margarit E, Bach V, Gómez D et al (2005) Mutation analysis of Wilson disease in the Spanish population - identification of a prevalent substitution and eight novel mutations in the ATP7B gene. Clin Genet 68:61–68. https://doi.org/10.1111/J.1399-0004.2005.00439.X
Article CAS PubMed Google Scholar
Penning LC, Berenguer M, Czlonkowska A et al (2023) A century of progress on Wilson disease and the enduring challenges of genetics, diagnosis, and treatment. Biomedicines 11. https://doi.org/10.3390/biomedicines11020420
Scheiber I, Brůha R, neurology PD-H of clinical (2017) Pathogenesis of Wilson disease. Elsevier 142:43–55
Gil-Bea FJ, Aldanondo G, Lasa-Fernández H et al (2017) Insights into the mechanisms of copper dyshomeostasis in amyotrophic lateral sclerosis. Expert Rev Mol Med 19:e7. https://doi.org/10.1017/erm.2017.9
Yurkova I, Arnhold J, Fitzl G et al (2011) Fragmentation of mitochondrial cardiolipin by copper ions in the Atp7b−/− mouse model of Wilson’s disease. Elsevier 164:393–400
Li M, Li Y, Chen J et al (2007) Copper ions inhibit S-adenosylhomocysteine hydrolase by causing dissociation of NAD+ cofactor. Biochemistry 46:11451–11458. https://doi.org/10.1021/BI700395D
Article CAS PubMed Google Scholar
Niculescu M, Zeisel SH (2002) Diet, methyl donors and DNA methylation: interactions between dietary folate, methionine and choline. J Nutr 132:2333S–2335S
Article CAS PubMed Google Scholar
Guo H, Zhu P, Yan L et al (2014) The DNA methylation landscape of human early embryos. nature.comH Guo, P Zhu, L Yan, R Li, B Hu, Y Lian, J Yan, X Ren, S Lin, J Li, X Jin, X Shi, P Liu, X WangNature, 2014•nature.com. 511:606–610. https://doi.org/10.1038/nature13544
Kieffer D, research VM-L (2017) Wilson disease: at the crossroads between genetics and epigenetics—a review of the evidence. Elsevier 1:121–130
Stättermayer A, Traussnigg S, Dienes H et al (2015) Hepatic steatosis in Wilson disease–Role of copper and PNPLA3 mutations. Elsevier 63:156–163
Medici V, Kieffer DA, Shibata NM et al (2016) Wilson disease: epigenetic effects of choline supplementation on phenotype and clinical course in a mouse model. Epigenetics 11:804–818. https://doi.org/10.1080/15592294.2016.1231289
Article PubMed PubMed Central Google Scholar
Mordaunt CE, Shibata NM, Kieffer DA et al (2018) Epigenetic changes of the thioredoxin system in the tx-j mouse model and in patients with Wilson disease. Hum Mol Genet. https://doi.org/10.1093/hmg/ddy262
Burkhead JL, Gray LW, Lutsenko S (2011) Systems biology approach to Wilson’s disease. BioMetals 24:455–466. https://doi.org/10.1007/S10534-011-9430-9
Article CAS PubMed PubMed Central Google Scholar
Gottlieb A, Devine L, Dev S et al (2021) Steatosis development in the mouse model of Wilson disease coincides with a muted inflammatory response. In: Viszeralmedizin 2021 Gemeinsame Jahrestagung Deutsche Gesellschaft für Gastroenterologie, Verdauungs- und Stoffwechselkrankheiten (DGVS), Sektion Endoskopie der DGVS, vol 59. Deutsche Gesellschaft für Allgemein und Viszeralchirurgie (DGAV). https://doi.org/10.1055/S-0041-1733630
Hamilton JP, Koganti L, Muchenditsi A et al (2016) Activation of liver X receptor/retinoid X receptor pathway ameliorates liver disease in Atp7B−/− (Wilson disease) mice. Hepatology 63:1828–1841. https://doi.org/10.1002/HEP.28406
Article CAS PubMed Google Scholar
Huster D, Lutsenko S (2007) Wilson disease: not just a copper disorder. Analysis of a Wilson disease model demonstrates the link between copper and lipid metabolism. Mol Biosyst 3:816. https://doi.org/10.1039/b711118p
Sauer S, Merle U, Opp S et al (2011) Severe dysfunction of respiratory chain and cholesterol metabolism in Atp7b−/− mice as a model for Wilson disease. Elsevier 1812:1607–1615
Strimbu K, Tavel JA (2010) What are biomarkers? Curr Opin HIV AIDS 5:463–466. https://doi.org/10.1097/COH.0b013e32833ed177
Mohr I, Weiss KH (2019) Biochemical markers for the diagnosis and monitoring of Wilson disease. Clinical Biochemist Reviews 40:59–77. https://doi.org/10.33176/AACB-18-00014
Martins C, Costa,’ Dianne Bald Win DA, Portma B, et al (1992) Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson’s disease. Wiley Online Library 15:609–615. https://doi.org/10.1002/hep.1840150410
Takahashi H, McCaffery J, Irizarry R et al (2006) Nucleocytosolic acetyl-coenzyme a synthetase is required for histone acetylation and global transcription. Mol Cell 23:207–217. https://doi.org/10.1016/j.molcel.2006.05.040
Article CAS PubMed Google Scholar
Salminen A, Kauppinen A et al (2014) Krebs cycle intermediates regulate DNA and histone methylation: epigenetic impact on the aging process. Elsevier, pp 45–65
Gu M, Cooper J, Butler P et al (2000) Oxidative-phosphorylation defects in liver of patients with Wilson’s disease. The Lancet 356:469–474. https://doi.org/10.1016/S0140-6736(00)02556-3
Lekomtseva Y, Voloshyn-Gaponov I, Tatayna G (2019) Targeting higher levels of Tau protein in Ukrainian Patients with Wilson’s Disease. Neurol Ther 8:59–68. https://doi.org/10.1007/S40120-019-0134-3
Article PubMed PubMed Central Google Scholar
Lin J, Zheng Y, Liu Y et al (2021) Higher concentration of plasma glial fibrillary acidic protein in Wilson disease patients with neurological manifestations. Movement Disord 36:1446–1450. https://doi.org/10.1002/mds.28509
Article CAS PubMed Google Scholar
Shribman S, Heller C, Burrows M (2020) Plasma neurofilament light as a biomarker of neurological involvement in Wilson’s disease. Mov Disord 36:503–508. https://doi.org/10.1002/mds.28333
Article CAS PubMed PubMed Central Google Scholar
Hefter H, Arslan M, Kruschel TS et al (2022) Pseudocholinesterase as a biomarker for untreated Wilson’s disease. Biomolecules 12:1791. https://doi.org/10.3390/biom12121791
Antos A, Litwin T, Przybyłkowski A et al (2022) Biomarkers of the central nervous system injury in Wilson’s disease. Pharmacotherapy in Psychiatry and Neurol 38:119–139. https://doi.org/10.5114/fpn.2022.123246
van der Ende EL, Meeter LH, Poos JM et al (2019) Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study. Lancet Neurol 18:1103–1111. https://doi.org/10.1016/S1474-4422(19)30354-0
Ziemssen T, Akgun K, Członkowska A et al (2022) Serum neurofilament light chain as a biomarker of brain injury in Wilson’s disease: clinical and neuroradiological correlations. Movement Disorders 37:1074–1079. https://doi.org/10.1002/MDS.28946
Article CAS PubMed Google Scholar
Czlonkowska A, Litwin T, Karliński M et al (2014) D-penicillamine versus zinc sulfate as first-line therapy for Wilson’s disease. Eur J Neurol 21:599–606. https://doi.org/10.1111/ENE.12348
Article CAS PubMed Google Scholar
Müller J, Lichtmannegger J et al (2018) High spatial resolution LA-ICP-MS demonstrates massive liver copper depletion in Wilson disease rats upon Methanobactin treatment. Elsevier 49:119–127
Dong T, Wu M, Tang L et al (2021) GanDouLing promotes proliferation and differentiation of neural stem cells in the mouse model of Wilson’s disease. Biosci Rep 41. https://doi.org/10.1042/BSR20202717
Chen Y, Zhang B, Cao S, et al (2018) GanDouLing combined with Penicillamine improves cerebrovascular injury via PERK/eIF2α/CHOP endoplasmic reticulum stress pathway in the mouse model of. portlandpress.comY Chen, B Zhang, S Cao, W Huang, N Liu, W YangBioscience Reports, 2018•portlandpress.com 38:
Merle U, Enckea J, Tuma S et al (2006) Lentiviral gene transfer ameliorates disease progression in Long-Evans Cinnamon rats: an animal model for Wilson disease. Scand J Gastroenterol 41:974–982. https://doi.org/10.1080/00365520600554790
Article CAS PubMed Google Scholar
Leng Y, Li P, Zhou L et al (2019) Long-term correction of copper metabolism in Wilson’s disease mice with AAV8 vector delivering truncated ATP7B. Hum Gene Ther 30:1494–1504. https://doi.org/10.1089/HUM.2019.148
Article CAS PubMed Google Scholar
Wei R, Yang J, Cheng C et al (2022) CRISPR-targeted genome editing of human induced pluripotent stem cell-derived hepatocytes for the treatment of Wilson’s disease. Elsevier, p 4
Park SM, Vo K, Lallier M et al (2006) Hepatocyte transplantation in the Long Evans Cinnamon rat model of Wilson’s disease. Cell Transplant 15:13–22. https://doi.org/10.3727/000000006783982188
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