Results 81 to 90 of about 8,657 (242)

Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with Wilson's disease in Serbia [PDF]

Vojnosanitetski Pregled, 2013
Background/Aim. Wilson’s disease (WD) is an autosomal-recessive disorder which is characterized with a marked clinical heterogeneity. The gene responsible for WD is located in 13q14.3 chromosome, contains 21 exons and codes for copper specific ...
Tomić Aleksandra, Dobričić Valerija, Novaković Ivana, Svetel Marina, Pekmezović Tatjana, Kresojević Nikola, Potrebić Aleksandra, Kostić Vladimir S.   +7 more
doaj   +1 more source

CRISPR/Cas9-mediated correction of mutated copper transporter ATP7B

PLOS ONE, 2020
Wilson's disease (WD) is a monogenetic liver disease that is based on a mutation of the ATP7B gene and leads to a functional deterioration in copper (Cu) excretion in the liver. The excess Cu accumulates in various organs such as the liver and brain.
Michael Pöhler, Sarah Guttmann, Oksana Nadzemova, Malte Lenders, Eva Brand, Andree Zibert, Hartmut H. Schmidt, Vanessa Sandfort   +7 more
openaire   +4 more sources

The Function of ATPase Copper Transporter ATP7B in Intestine [PDF]

Gastroenterology, 2018
Wilson disease is a disorder of copper (Cu) misbalance caused by mutations in ATP7B. ATP7B is highly expressed in the liver-the major site of Cu accumulation in patients with Wilson disease. The intestine also expresses ATP7B, but little is known about the contribution of intestinal ATP7B to normal intestinal copper homeostasis or to Wilson disease ...
Hannah, Pierson, Abigael, Muchenditsi, Byung-Eun, Kim, Martina, Ralle, Nicholas, Zachos, Dominik, Huster, Svetlana, Lutsenko   +6 more
openaire   +2 more sources

A High-Calorie Diet Aggravates Mitochondrial Dysfunction and Triggers Severe Liver Damage in Wilson Disease RatsSummary

Cellular and Molecular Gastroenterology and Hepatology, 2019
Background & Aims: In Wilson disease, ATP7B mutations impair copper excretion into bile. Hepatic copper accumulation may induce mild to moderate chronic liver damage or even acute liver failure.
Claudia Einer, Christin Leitzinger, Josef Lichtmannegger, Carola Eberhagen, Tamara Rieder, Sabine Borchard, Ralf Wimmer, Gerald Denk, Bastian Popper, Frauke Neff, Elena V. Polishchuk, Roman S. Polishchuk, Stefanie M. Hauck, Christine von Toerne, Jennifer-Christin Müller, Uwe Karst, Bipin S. Baral, Alan A. DiSpirito, Andreas E. Kremer, Jeremy Semrau, Karl Heinz Weiss, Simon Hohenester, Hans Zischka   +22 more
doaj   +1 more source

Organoids in Cancer Research and Regenerative Medicine: Current Status, Challenges, and Future Prospects

MedComm, Volume 7, Issue 1, January 2026.
The management of cancer and tissue regeneration remains a substantial challenge to global health. Organoids, which are stem cell‐derived three‐dimensional multicellular structures, are revolutionizing biomedical research. Therefore, this review highlights their applications in cancer research and regenerative medicine, while discussing current ...
Ruiyang Li, Yuezhou Wu, Zhu'anzhen Zheng, Fengjin Zhou, Ke Xu, Jiacan Su   +5 more
wiley   +1 more source

ATP7B activity is stimulated by PKCɛ in porcine liver

The International Journal of Biochemistry & Cell Biology, 2014
Copper is necessary for all organisms since it acts as a cofactor in different enzymes, although toxic at high concentrations. ATP7B is one of two copper-transporting ATPases in humans, its vital role being manifested in Wilson disease due to a mutation in the gene that encodes this pump.
Cardoso, Luiza H. D., Britto Borges, Thiago, Vieyra, Adalberto, Lowe, Jennifer   +3 more
openaire   +3 more sources

ATP7B Variants as Modulators of Copper Dyshomeostasis in Alzheimer’s Disease [PDF]

NeuroMolecular Medicine, 2013
To understand the role of the key copper-regulating gene, ATP7B, in copper dyshomeostasis associated with Alzheimer's disease (AD), we analyzed the serum levels of copper, ceruloplasmin and 'free' (i.e., non-ceruloplasmin bound) copper in 399 patients with AD and 303 elderly healthy controls. We also performed analyses of informative variants of ATP7B.
Squitti, R, Polimanti, R, Siotto, M, Bucossi, S, Ventriglia, M, Mariani, S, Venrieri, F, Scrascia, F, Trotta, L, Rossini, Paolo Maria   +9 more
openaire   +3 more sources

Targeted Carrier Screening for Thalassemia, Hereditary Deafness, and Spinal Muscular Atrophy: A Feasible Approach for Preventing Birth Defects in China's Community Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
Current carrier screening primarily focuses on high detection rates and broad testing ranges. We approach the issue from the perspective of a community physician, evaluating the suitability of carrier screening based on factors such as cost, ease of report interpretation, and compliance issues.
Zhihui Wang, Wenjing Bai, Xiaohe Cai, Sheng Huang, Jiangzhong Zeng, Xiaoting Liang, Xutao Hong   +6 more
wiley   +1 more source

The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders

Disease Models & Mechanisms, 2016
The deleterious effects of a disrupted copper metabolism are illustrated by hereditary diseases caused by mutations in the genes coding for the copper transporters ATP7A and ATP7B. Menkes disease, involving ATP7A, is a fatal neurodegenerative disorder of
Hille Fieten, Yadvinder Gill, Alan J. Martin, Mafalda Concilli, Karen Dirksen, Frank G. van Steenbeek, Bart Spee, Ted S. G. A. M. van den Ingh, Ellen C. C. P. Martens, Paola Festa, Giancarlo Chesi, Bart van de Sluis, Roderick H. J. H. Houwen, Adrian L. Watson, Yurii S. Aulchenko, Victoria L. Hodgkinson, Sha Zhu, Michael J. Petris, Roman S. Polishchuk, Peter A. J. Leegwater, Jan Rothuizen   +20 more
doaj   +1 more source

Functional Interactions of Cu-ATPase ATP7B with Cisplatin and the Role of ATP7B in the Resistance of Cells to the Drug [PDF]

Journal of Biological Chemistry, 2009
Cisplatin is a widely used chemotherapeutic agent for treatment of ovarian, testicular, lung, and stomach cancers. The initial response to the drug is robust; however, tumor cells commonly develop resistance to cisplatin, which complicates treatment.
Karoline, Leonhardt, Rolf, Gebhardt, Joachim, Mössner, Svetlana, Lutsenko, Dominik, Huster   +4 more
openaire   +2 more sources