Results 91 to 100 of about 8,657 (242)

Methanobactin rapidly facilitates biliary copper excretion in a Wilson disease rat model visualised by 64Cu PET/MRI

British Journal of Pharmacology, Volume 183, Issue 2, Page 268-279, January 2026.
Background and Purpose Methanobactins are peptides with high copper affinity and potential to treat Wilson disease. We examined how two methanobactins (ARBM101 and MB‐OB3b) affected copper handling in the LPP Atp7b−/− Wilson disease rat model, compared to penicillamine or saline, by 64Cu positron emission tomography/magnetic resonance imaging ...
Emilie Munk Lynderup, Mikkel Holm Vendelbo, Frederik Teicher Kirk, Karina Højrup Vase, Aage Kristian Olsen Alstrup, Tamara Rieder, Alan A. DiSpirito, Jeremy D. Semrau, Tea Lund Laursen, Peter Ott, Hans Zischka, Thomas Damgaard Sandahl   +11 more
wiley   +1 more source

MTF1 binds to metal‐responsive element e within the ATP7B promoter and is a strong candidate in regulating the ATP7B expression [PDF]

Annals of Human Genetics, 2019
AbstractWilson's disease is an autosomal recessive disorder resulting from copper excess. Some patients with clinical Wilson's disease symptoms exhibit no or only heterozygous pathogenic variants in the coding region of the disease‐causing ATP7B gene. Therefore, the ATP7B promoter region is of special interest.
Amelie Stalke, Eva‐Doreen Pfister, Ulrich Baumann, Thomas Illig, Eva Reischl, Maria Sandbothe, Beate Vajen, Nicole Huge, Brigitte Schlegelberger, Nils von Neuhoff, Britta Skawran   +10 more
openaire   +3 more sources

Pharmacotherapy Risks in Rare Genetic Diseases: Cross‐Referencing ACMG Secondary Findings v3.2 List With Clinical Databases

Clinical and Translational Science, Volume 19, Issue 1, January 2026.
ABSTRACT Clinical genomics and pharmacogenomics have largely remained separate fields, though some genetic variants have overlapping disease risk and drug implications. However, the extent of this overlap is not well studied. To explore this gap, we cross‐referenced genes from the American College of Medical Genetics Secondary Findings v3.2 list with ...
Josiah D. Allen, Benjamin Q. Duong, Jordan Brady, Pamela Arn   +3 more
wiley   +1 more source

ATP7B knockout disturbs copper and lipid metabolism in Caco-2 cells.

PLoS ONE, 2020
Intestinal cells control delivery of lipids to the body by adsorption, storage and secretion. Copper (Cu) is an important trace element and has been shown to modulate lipid metabolism.
Sarah Guttmann, Oksana Nadzemova, Inga Grünewald, Malte Lenders, Eva Brand, Andree Zibert, Hartmut H Schmidt   +6 more
doaj   +1 more source

Identification of miRNAs Expression Characteristics and Biomarkers in Serum‐Derived Exosomes of Wilson’s Disease Patients

Mediators of Inflammation, Volume 2026, Issue 1, 2026.
Background Wilson’s disease (WD), caused by mutations in the ATP7B gene, leads to copper accumulation and multi‐organ damage. Exosomal microRNAs (miRNAs) play a crucial role in cell‐to‐cell communication and the pathogenesis of diseases, yet their study in WD remains unreported.
Hong Chen, Xie Wang, Ying Ma, Yue Pu, Hao Ye, Juan Zhang, Duo Zhang   +6 more
wiley   +1 more source

Investigation of the Wilson gene ATP7B transcriptional start site and the effect of core promoter alterations [PDF]

, 2021
Clemens Höflich, Angela Brieger, Stefan Zeuzem, Guido Plotz   +3 more
openalex   +1 more source

Metabolic dysregulation in the Atp7b−/− Wilson’s disease mouse model

Proceedings of the National Academy of Sciences of the United States of America, 2020
Significance Wilson’s disease is an autosomal recessive disorder that results in accumulation of toxic levels of copper in the liver, which can lead to cirrhosis and liver failure.
C. R. Wooton-Kee, M. Robertson, Ying Zhou, B. Dong, Zhen Sun, K. Kim, Hailan Liu, Yong Xu, N. Putluri, P. Saha, C. Coarfa, D. Moore, Alli M. Nuotio-Antar   +12 more
semanticscholar   +1 more source

Plasma Glial Fibrillary Acidic Protein Correlates With Brain Metal Burden in Wilson's Disease

Annals of Clinical and Translational Neurology, Volume 12, Issue 12, Page 2433-2445, December 2025.
ABSTRACT Objective Neuroinflammation driven by extracellular copper contributes to neuronal damage in Wilson's disease (WD). This study investigated the relationship between brain metal burden and peripheral neuroinflammation markers in WD. Methods We conducted a cross‐sectional study involving 89 participants, including patients with WD (n = 63 ...
Sung‐Pin Fan, Ya‐Fang Chen, Cheng‐Hsuan Li, Yih‐Chih Kuo, Ni‐Chung Lee, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Tai‐Chung Tseng, Tung‐Hung Su, Chien‐Ting Hsu, Huey‐Ling Chen, Chin‐Hsien Lin, Yen‐Hsuan Ni   +12 more
wiley   +1 more source

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology, Volume 12, Issue 12, Page 2558-2568, December 2025.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
wiley   +1 more source

Synthetic Lethality Screening Identifies FDA-Approved Drugs that Overcome ATP7B-Mediated Tolerance of Tumor Cells to Cisplatin

Cancers, 2020
Tumor resistance to chemotherapy represents an important challenge in modern oncology. Although platinum (Pt)-based drugs have demonstrated excellent therapeutic potential, their effectiveness in a wide range of tumors is limited by the development of ...
Marta Mariniello, R. Petruzzelli, L. G. Wanderlingh, R. la Montagna, A. Carissimo, Francesca Pane, A. Amoresano, E. Ilyechova, Michael M. Galagudza, Federico Catalano, R. Crispino, L. Puchkova, D. Medina, R. Polishchuk   +13 more
semanticscholar   +1 more source