Results 21 to 30 of about 6,030 (184)

ABCB4 disease mimicking morbus Wilson: A potential diagnostic pitfall

Biomedical Papers, 2020
Introduction: Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare autosomal recessive cholestatic liver disorder caused by genetic deficiency of ATP-binding cassette subfamily B member 4 (ABCB4), a hepatocanalicular floppase ...
Eva Sticova, Magdalena Neroldova, Radana Kotalova, Iva Subhanova, Milan Jirsa   +4 more
doaj   +1 more source

Distinct Wilson’s Disease Mutations in ATP7B Are Associated With Enhanced Binding to COMMD1 and Reduced Stability of ATP7B [PDF]

Gastroenterology, 2007
Wilson's disease (WD) is characterized by hepatic copper overload and caused by mutations in the gene encoding the copper-transporting P-type adenosine triphosphatase (ATPase) ATP7B. ATP7B interacts with COMMD1, a protein that is deleted in Bedlington terriers with hereditary copper toxicosis.
de Bie, Prim, van de Sluis, Bart, Burstein, Ezra, van den Berghe, Peter V. E., Muller, Patricia, Berger, Ruud, Gitlin, Jonathan D., Wijmenga, Cisca, Klomp, Leo W. J.   +8 more
openaire   +3 more sources

FOUR DIFFERENT PRESENTATIONS OF WILSON’S DISEASE IN ONE FAMILY

Pakistan Armed Forces Medical Journal, 2021
Wilson’s disease (WD) is an important differential to consider in any child presenting with hepatic, neurological or ophthalmological manifestations of the disease. We report here 4 individuals of the same family: 2 paediatric and 2 adult patients with a
Asbah Rahman, Qudratullah Malik, Farooq Ikram   +2 more
doaj   +1 more source

Therapeutic Targeting of ATP7B in Ovarian Carcinoma [PDF]

Clinical Cancer Research, 2009
Abstract Purpose: Resistance to platinum chemotherapy remains a significant problem in ovarian carcinoma. Here, we examined the biological mechanisms and therapeutic potential of targeting a critical platinum resistance gene, ATP7B, using both in vitro and in vivo models.
Mangala, Lingegowda S, Zuzel, Vesna, Schmandt, Rosemarie, Leshane, Erik S, Halder, Jyotsna B, Armaiz-Pena, Guillermo N, Spannuth, Whitney A, Tanaka, Takemi, Shahzad, Mian M K, Lin, Yvonne G, Nick, Alpa M, Danes, Christopher G, Lee, Jeong-Won, Jennings, Nicholas B, Vivas-Mejia, Pablo E, Wolf, Judith K, Coleman, Robert L, Siddik, Zahid H, Lopez-Berestein, Gabriel, Lutsenko, Svetlana, Sood, Anil K   +20 more
openaire   +2 more sources

ROLUL PROTEINEI ATP7B ÎN HOMEOSTAZIA CUPRULUI ȘI ÎN DEZVOLTAREA BOLII WILSON: REVISTA LITERATURII

Arta Medica, 2022
Obiective. Scopul lucrării prezente constă în studierea funcției proteinei ATP7B la nivel celular și sistemic, implicarea enzimei în menținerea echilibrului intern al ionilor de cupru, precum și rolul ei în dezvoltarea maladiei Wilson.
Veronica Cumpătă
doaj   +1 more source

Functional Characterization of Novel ATP7B Variants for Diagnosis of Wilson Disease

Frontiers in Pediatrics, 2018
Background: Diagnosis of rare Wilson disease (WD) in pediatric patients is difficult, in particular when hepatic manifestation is absent. Genetic analysis of ATP7B represents the single major determinant of the diagnostic scoring system in WD children ...
Sarah Guttmann, Friedrich Bernick, Magdalena Naorniakowska, Ulf Michgehl, Sara Reinartz Groba, Piotr Socha, Andree Zibert, Hartmut H. Schmidt   +7 more
doaj   +1 more source

ATP7B-Deficient Hepatocytes Reveal the Importance of Protein Misfolding Induced at Low Copper Concentration

Cells, 2022
Copper is a transition metal essential for human life. Its homeostasis is regulated in the liver, which delivers copper to the whole body and excretes its excess outside the organism in the feces through the bile.
Peggy Charbonnier, Benoît Chovelon, Corinne Ravelet, Tuan Dung Ngo, Mireille Chevallet, Aurélien Deniaud   +5 more
doaj   +1 more source

Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease

Hepatology Communications, 2022
Wilson disease (WD) is caused by biallelic pathogenic variants in adenosine triphosphatase copper‐transporting beta (ATP7B); however, genetic testing identifies only one or no pathogenic ATP7B variant in a number of patients with WD.
Marlene Panzer, André Viveiros, Benedikt Schaefer, Nadja Baumgartner, Klaus Seppi, Atbin Djamshidian, Theodor Todorov, William J. H. Griffiths, Eckart Schott, Markus Schuelke, Dennis Eurich, Albert Friedrich Stättermayer, Adrian Bomford, Pierre Foskett, Julia Vodopiutz, Rudolf Stauber, Elke Pertler, Bernhard Morell, Herbert Tilg, Thomas Müller, Stefan Kiechl, Raul Jimenez‐Heredia, Karl Heinz Weiss, Si Houn Hahn, Andreas Janecke, Peter Ferenci, Heinz Zoller   +26 more
doaj   +1 more source

Metallothionein is elevated in liver and duodenum of Atp7b(−/−) mice [PDF]

BioMetals, 2018
Different mutations in the copper transporter gene Atp7b are identified as the primary cause of Wilson's disease. These changes result in high copper concentrations especially in the liver and brain, and consequently lead to a dysfunction of these organs.
Chengcheng Christine Zhang, Martin Volkmann, Sabine Tuma, Wolfgang Stremmel, Uta Merle   +4 more
openaire   +2 more sources

Systemic deletion of Atp7b modifies the hepatocytes’ response to copper overload in the mouse models of Wilson disease

Scientific Reports, 2021
Wilson disease (WD) is caused by inactivation of the copper transporter Atp7b and copper overload in tissues. Mice with Atp7b deleted either globally (systemic inactivation) or only in hepatocyte recapitulate various aspects of human disease.
Abigael Muchenditsi, C. Conover Talbot, Aline Gottlieb, Haojun Yang, Byunghak Kang, Tatiana Boronina, Robert Cole, Li Wang, Som Dev, James P. Hamilton, Svetlana Lutsenko   +10 more
doaj   +1 more source