Wilson’s Disease: An Update on the Diagnostic Workup and Management

Beata Kasztelan-Szczerbinska and Halina Cichoz-Lach

JCM, 2021, 10, 5097
DOI: 10.3390/jcm10215097

Activation of Autophagy, Observed in Liver Tissues From Patients With Wilson Disease and From ATP7B-Deficient Animals, Protects Hepatocytes From Copper-Induced Apoptosis

Elena V. Polishchuk, Assunta Merolla, Josef Lichtmannegger, Alessia Romano, Alessia Indrieri, Ekaterina Y. Ilyechova, Mafalda Concilli, Rossella De Cegli, Roberta Crispino, Marta Mariniello, Raffaella Petruzzelli, Giusy Ranucci, Raffaele Iorio, Federico Pietrocola, Claudia Einer, Sabine Borchard, Andree Zibert, Hartmut H. Schmidt, Elia Di Schiavi, Ludmila V. Puchkova, Brunella Franco, Guido Kroemer, Hans Zischka and Roman S. Polishchuk

Gastroenterology, 2019, 156, 1173
DOI: 10.1053/j.gastro.2018.11.032

Current Management of Neurological Wilson’s Disease

V. H. Ganaraja, Vikram V. Holla and Pramod Kumar Pal

Tremor and Other Hyperkinetic Movements, 2025, 15
DOI: 10.5334/tohm.938

Towards personalized genome-scale modeling of inborn errors of metabolism for systems medicine applications

Almut Heinken, Sandra El Kouche, Rosa-Maria Guéant-Rodriguez and Jean-Louis Guéant

Metabolism, 2024, 150, 155738
DOI: 10.1016/j.metabol.2023.155738

Genetic diversity and signatures of selection in Anglo-Arabian racehorses based on medium-density genotype data

Michela Ablondi, Emanuela Pira, Vittoria Asti, Alberto Sabbioni, Maria Luisa Dettori, Giuseppe Massimo Vacca and Michele Pazzola

Italian Journal of Animal Science, 2024, 23, 961
DOI: 10.1080/1828051X.2024.2367668

Endoplasmic Reticulum redox pathways: in sickness and in health

Adam M. Benham

The FEBS Journal, 2019, 286, 311
DOI: 10.1111/febs.14618

Latest innovations in the treatment of Wilson's disease

Zi-Wei Zheng, Yi Dong and Zhi-Ying Wu

iLIVER, 2022, 1, 181
DOI: 10.1016/j.iliver.2022.09.002

Phenanthroline and Schiff Base associated Cu(II)-coordinated compounds containing N, O as donor atoms for potent anticancer activity

Richa, Vinod Kumar and Ramesh Kataria

Journal of Inorganic Biochemistry, 2024, 251, 112440
DOI: 10.1016/j.jinorgbio.2023.112440

The six metal binding domains in human copper transporter, ATP7B: molecular biophysics and disease-causing mutations

Candan Ariöz, Yaozong Li and Pernilla Wittung-Stafshede

Biometals, 2017, 30, 823
DOI: 10.1007/s10534-017-0058-2

Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments

Ramanath Narayana Hegde, Advait Subramanian, Prathyush Pothukuchi, Seetharaman Parashuraman and Alberto Luini

Tissue and Cell, 2017, 49, 175
DOI: 10.1016/j.tice.2017.02.001

A genome-wide association study for harness racing success in the Norwegian-Swedish coldblooded trotter reveals genes for learning and energy metabolism

Brandon D. Velie, Kim Jäderkvist Fegraeus, Marina Solé, Maria K. Rosengren, Knut H. Røed, Carl-Fredrik Ihler, Eric Strand and Gabriella Lindgren

BMC Genet, 2018, 19
DOI: 10.1186/s12863-018-0670-3

Crossroads between membrane trafficking machinery and copper homeostasis in the nerve system

Meng-Hsuan Wen, Xihong Xie, Pei-San Huang, Karen Yang and Tai-Yen Chen

Open Biol., 2021, 11
DOI: 10.1098/rsob.210128

Pharmacoproteomics pinpoints HSP70 interaction for correction of the most frequent Wilson disease-causing mutant of ATP7B

Mafalda Concilli, Raffaella Petruzzelli, Silvia Parisi, Federico Catalano, Francesco Sirci, Francesco Napolitano, Mario Renda, Luis J. V. Galietta, Diego Di Bernardo and Roman S. Polishchuk

Proc. Natl. Acad. Sci. U.S.A., 2020, 117, 32453
DOI: 10.1073/pnas.2006648117

Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease

Susanne Seemann, Mathias Ernst, Chiara Cimmaruta, Stephan Struckmann, Claudia Cozma, Dirk Koczan, Anne-Marie Knospe, Linda Rebecca Haake, Valentina Citro, Anja U. Bräuer, Giuseppina Andreotti, Maria Vittoria Cubellis, Georg Fuellen, Andreas Hermann, Anne-Katrin Giese, Arndt Rolfs and Jan Lukas

Biochemical Journal, 2020, 477, 359
DOI: 10.1042/BCJ20190513

Gut Microbiome Critically Impacts PCB-induced Changes in Metabolic Fingerprints and the Hepatic Transcriptome in Mice

Joe Jongpyo Lim, Xueshu Li, Hans-Joachim Lehmler, Dongfang Wang, Haiwei Gu and Julia Yue Cui

Toxicological Sciences, 2020, 177, 168
DOI: 10.1093/toxsci/kfaa090

A new Caenorhabditis elegans model to study copper toxicity in Wilson disease

Federico Catalano, Thomas J. O'Brien, Aleksandra A. Mekhova, Lucia Vittoria Sepe, Mariantonietta Elia, Rossella De Cegli, Ivan Gallotta, Pamela Santonicola, Giuseppina Zampi, Ekaterina Y. Ilyechova, Aleksei A. Romanov, Polina D. Samuseva, Josephine Salzano, Raffaella Petruzzelli, Elena V. Polishchuk, Alessia Indrieri, Byung‐Eun Kim, André E. X. Brown, Ludmila V. Puchkova, Elia Di Schiavi and Roman S. Polishchuk

Traffic, 2024, 25
DOI: 10.1111/tra.12920

Wilson’s disease: Prospective developments towards new therapies

Giusy Ranucci, Roman Polishchuck and Raffaele Iorio

WJG, 2017, 23, 5451
DOI: 10.3748/wjg.v23.i30.5451

Copper signalling: causes and consequences

Julianna Kardos, László Héja, Ágnes Simon, István Jablonkai, Richard Kovács and Katalin Jemnitz

Cell Commun Signal, 2018, 16
DOI: 10.1186/s12964-018-0277-3

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

C. Gerosa, D. Fanni, T. Congiu, M. Piras, F. Cau, M. Moi and G. Faa

Journal of Inorganic Biochemistry, 2019, 193, 106
DOI: 10.1016/j.jinorgbio.2019.01.008

Trace Elements in Medicinal Metallomics

Marina Orlova, Stepan Kalmykov, Tatiana Trofimova and Dmitry Kuznetsov

MRMC, 2025, 25, 664
DOI: 10.2174/0113895575333766240912162252

Role of endoplasmic reticulum stress and protein misfolding in disorders of the liver and pancreas

Jan Lukas, Jola Pospech, Christina Oppermann, Christina Hund, Katharina Iwanov, Supansa Pantoom, Janine Petters, Moritz Frech, Susanne Seemann, Franziska-Gisela Thiel, Jana-Marielle Modenbach, Robert Bolsmann, Laura de Freitas Chama, Franziska Kraatz, Firas El-Hage, Manuel Gronbach, Annelie Klein, Regina Müller, Sabine Salloch, Frank-Ulrich Weiss, Peter Simon, Preshit Wagh, Almuth Klemenz, Elke Krüger, Julia Mayerle, Mihaela Delcea, Udo Kragl, Matthias Beller, Arndt Rolfs, Markus M. Lerch and Matthias Sendler

Advances in Medical Sciences, 2019, 64, 315
DOI: 10.1016/j.advms.2019.03.004