Results 81 to 90 of about 6,030 (184)

Glymphatic System Dysfunction and its Associated Factors in Wilson's Disease: A DTI–ALPS Study

Brain and Behavior, Volume 16, Issue 10, October 2026.
Glymphatic function, assessed by DTI‐ALPS index, was impaired in neurological Wilson's disease compared with hepatic phenotype and controls. Age, AST, and UWDRS‐I score independently predicted dysfunction, linking neurodegeneration, liver injury, and altered glymphatic activity. ABSTRACT Background Wilson's disease (WD) is a genetic disorder of copper (
Ling Zhu, Tong Wu, Liang‐Jie Zhang, Qin‐yuan Liu, Liang‐liang Zhang, Bin Song, Yu‐long Zhu, Lei Hua, Long Zhang, Bo Li, Quan Sun, Ben‐chun Xue, Yin Xu, Yong‐zhu Han, Yong‐sheng Han   +14 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

Iron and Other Metal Ions in Human Health and Disease

MedComm, Volume 7, Issue 10, October 2026.
Iron, copper, zinc, and calcium orchestrate cellular function through distinct yet cooperative mechanisms: redox‐active iron and copper cycle between oxidation states to act as Fenton catalysts and electron carriers in oxidative phosphorylation (OXPHOS); redox‐inert zinc serves as a structural component of zinc‐finger proteins and a catalytic cofactor ...
Xiaofeng Dai, Jitian Li
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

Acute copper exposure alters tissue copper accumulation, hepatic responses, and gut microbiota composition in gibel carp (Carassius gibelio, CAS V)

Journal of the World Aquaculture Society, Volume 57, Issue 5, October 2026.
Abstract Short‐term copper exposure episodes can occur in aquaculture systems due to copper sulfate application or accidental increases in waterborne copper concentrations. However, the temporal patterns of tissue‐specific physiological responses and gut microbiota alterations during acute copper exposure remain insufficiently characterized.
Liyun Wu, Kunkun Cao, Junyan Jin, Chaoyue Li, Rui Zhang, Haokun Liu, Zhimin Zhang, Dong Han, Shouqi Xie, Ronghua Lu   +9 more
wiley   +1 more source

Glide Docking for Prediction of Potential Inhibitors of ATP7B Protein in Wilson Disease [PDF]

Journal of Advanced Biomedical Sciences
Background & Objectives: Wilson’s disease is a genetic disorder marked by the pathological accumulation of copper in the liver and brain due to malfunctioning of the ATP7B protein.
Monir Shalbafan, Mahdieh Sadeghpour, Abolfazl Olyaei   +2 more
doaj  

ATP7b gene and Wilson's disease [PDF]

Journal of Gastroenterology and Hepatology, 2004
S Santhosh, RV Shaji, CE Eapen, GM Chandy   +3 more
openaire   +2 more sources

Hepatocyte Transplantation in the Long Evans Cinnamon Rat Model of Wilson's Disease

Cell Transplantation, 2006
Wilson's disease (WD), caused by a mutation in the P-type copper transporting ATPase (Atp7b) gene, results in excessive accumulation of copper in the liver.
Seon Mee Park, Kim Vo, Michel Lallier, Alexis-Simon Cloutier, Pierre Brochu, Fernando Alvarez, Steven R. Martin   +6 more
doaj   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

小鼠肝脏特异性表达载体ALB-ATP7B的构建

Zhongshan Daxue xuebao. Yixue kexue ban, 2004
［目的 l 构建人肝豆状核变性病ATP7B基因野生型及常见突变型的小鼠肝脏特异性表达载体 ALB-ATP7B, 为制备转基因小鼠及相关基因治疗作准备。【方法】定点突变法获取人群中常见的Arg778Leu及 Hisl069Gln两种ATP7B基因突变体，定向克隆将小鼠白蛋白启动子ALB序列及野生和突变的ATP7B基因亚克 隆至真核表达载体kbpala上， 得到可在小鼠肝脏特异性表达的人ATP7B基因正常及突变型真核表达载体 ALB-ATP7B。【结果】经测序及酶切鉴定证实， 真核表达载体ALB ...
doaj