Results 41 to 50 of about 8,657 (242)

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

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

A case of a mild Wolfram Syndrome with concomitant ATP7B mutation [PDF]

CellR4, 2019
Background: Wolfram Syndrome 1 (WS1) has been characterized on the basis of mutation in the WFS1 gene encoding a calcium storage wolframin endoplasmatic reticulum transmembrane glycoprotein.
R. Squitti, G. Cerchiaro, I. Giovannoni, P. Francalanci, M. Siotto, P. Maffei, C. Ricordi, M. Rongioletti   +7 more
doaj   +1 more source

Diverse Functional Properties of Wilson Disease ATP7B Variants [PDF]

Gastroenterology, 2012
Wilson disease is a severe disorder of copper metabolism caused by mutations in ATP7B, which encodes a copper-transporting adenosine triphosphatase. The disease presents with a variable phenotype that complicates the diagnostic process and treatment.
Huster, Dominik, Kühne, Angelika, Bhattacharjee, Ashima, Raines, Lily, Jantsch, Vanessa, Noe, Johannes, Schirrmeister, Wiebke, Sommerer, Ines, Sabri, Osama, Berr, Frieder, Mössner, Joachim, Stieger, Bruno, Caca, Karel, Lutsenko, Svetlana   +13 more
openaire   +2 more sources

Mutation analysis of the ATP7B gene and genotype–phenotype correlation in Chinese patients with Wilson disease

BMC Gastroenterology, 2021
Aim To discover the novel ATP7B mutations in 103 southern Chinese patients with Wilson disease (WD), and to determine the spectrum and frequency of mutations in the ATP7B gene and genotype–phenotype correlation in a large-scale sample of Chinese WD ...
Ming‐ming Li, Jing Ma, Wenlong Wang, Xu Yang, Kaizhong Luo   +4 more
semanticscholar   +1 more source

Pathogenic gene variation spectrum and carrier screening for Wilson’s disease in Qingdao area

Molecular Genetics & Genomic Medicine, 2021
Background Despite the increasing number of reports on the analysis of ATP7B variants, reports on carrier screening for Wilson's disease (WD, OMIM:277900) are rare.
Lingyan Qiao, Juan Ge, Cheng Li, Yusheng Liu, Conghui Hu, Sicui Hu, Wenjie Li, Tang Li   +7 more
doaj   +1 more source

CRISPR-targeted genome editing of human induced pluripotent stem cell-derived hepatocytes for the treatment of Wilson’s disease

JHEP Reports, 2022
Background & Aims: Wilson’s disease (WD) is an autosomal recessive disorder of copper metabolism caused by loss-of-function mutations in ATP7B, which encodes a copper-transporting protein. It is characterized by excessive copper deposition in tissues,
Rui Wei, Jiayin Yang, Chi-Wa Cheng, Wai-In Ho, Na Li, Yang Hu, Xueyu Hong, Jian Fu, Bo Yang, Yuqing Liu, Lixiang Jiang, Wing-Hon Lai, Ka-Wing Au, Wai-Ling Tsang, Yiu-Lam Tse, Kwong-Man Ng, Miguel A. Esteban, Hung-Fat Tse   +17 more
doaj   +1 more source

Metal-Dependent Regulation of ATP7A and ATP7B in Fibroblast Cultures [PDF]

Frontiers in Molecular Neuroscience, 2016
Deficiency of one of the copper transporters ATP7A and ATP7B leads to the rare X-linked disorder Menkes Disease (MD) or the rare autosomal disorder Wilson disease (WD), respectively. In order to investigate whether the ATP7A and the ATP7B genes may be transcriptionally regulated, we measured the expression level of the two genes at various ...
Małgorzata Lenartowicz, Torben Moos, Mateusz Ogórek, Thomas G. Jensen, Lisbeth Birk Møller   +4 more
openalex   +7 more sources

ATP7B detoxifies silver in ciliated airway epithelial cells [PDF]

Toxicology and Applied Pharmacology, 2010
Silver is a centuries-old antibiotic agent currently used to treat infected burns. The sensitivity of a wide range of drug-resistant microorganisms to silver killing suggests that it may be useful for treating refractory lung infections. Toward this goal, we previously developed a methylated caffeine silver acetate compound, SCC1, that exhibits broad ...
Aida, Ibricevic, Steven L, Brody, Wiley J, Youngs, Carolyn L, Cannon   +3 more
openaire   +2 more sources

Correction: Single nucleotide polymorphisms in the human ATP7B gene modify the properties of the ATP7B protein

Metallomics, 2019
Correction for 'Single nucleotide polymorphisms in the human ATP7B gene modify the properties of the ATP7B protein' by Courtney J. McCann et al., Metallomics, 2019, 11, 1128-1139.
Maria Osipova, Courtney J. McCann, Mariacristina Siotto, Samuel Jayakanthan, Svetlana Lutsenko, Rosanna Squitti, Nan Yang   +6 more
openaire   +4 more sources