Results 31 to 40 of about 6,030 (184)

Atp7b-dependent choroid plexus dysfunction causes transient copper deficit and metabolic changes in the developing mouse brain.

PLoS Genetics, 2023
Copper (Cu) has a multifaceted role in brain development, function, and metabolism. Two homologous Cu transporters, Atp7a (Menkes disease protein) and Atp7b (Wilson disease protein), maintain Cu homeostasis in the tissue. Atp7a mediates Cu entry into the
Clorissa L Washington-Hughes, Shubhrajit Roy, Herana Kamal Seneviratne, Senthilkumar S Karuppagounder, Yulemni Morel, Jace W Jones, Alex Zak, Tong Xiao, Tatiana N Boronina, Robert N Cole, Namandjé N Bumpus, Christopher J Chang, Ted M Dawson, Svetlana Lutsenko   +13 more
doaj   +1 more source

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

Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease. [PDF]

PLoS ONE, 2013
Wilson's disease (WD) is an autosomal recessive inherited disorder caused by mutations in the ATPase Cu(2+) transporting beta polypeptide gene (ATP7B). The detailed metabolism of copper-induced pathology in WD is still unknown.
Shaojuan Gu, Huarong Yang, Yong Qi, Xiong Deng, Le Zhang, Yi Guo, Qing Huang, Jing Li, Xiaoliu Shi, Zhi Song, Hao Deng   +10 more
doaj   +1 more source

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

Supramolecular Cadmium‐Telluride Proteoliposomal Assemblies for Real‐Time Detection of Protein‐Catalyzed Pt(II)‐Complexes Transmembrane Translocation: Cu(I)‐Pumps Are Electrogenic Pt(II)‐Drug Uniporters

Angewandte Chemie, EarlyView.
Supramolecular mercaptosuccinic acid‐capped CdTe core‐type quantum dot‐encapsulated proteoliposome assemblies (MSA‐CdTe QD PLs) have been developed to study and unambiguously demonstrate real‐time transporter‐mediated turnover translocation of Pt(II)‐based complexes by transmembrane Cu(I) P‐type ATPase pumps (CopA).
Madujika A. Horadigala Gamage, Alessandra Barbanente, Nadeesha T. Liyana Withanage, Yalini H. Wijesundara, Jeremiah J. Gassensmith, Fabio Arnesano, Giovanni Natile, Gabriele Meloni   +7 more
wiley   +2 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

Transcranial sonography changes in heterozygotic carriers of the ATP7B gene [PDF]

Neurological Sciences, 2020
Abstract Purpose Wilson’s disease (WD) is an autosomal recessive disorder of ATP7B gene leading to impaired copper metabolism. Brain imaging, such as magnetic resonance (MR) and transcranial sonography (TCS) in WD patients, shows changes mostly in the basal ganglia.
Marta Skowronska, Tomasz Litwin, Iwona Kurkowska-Jastrzębska, Anna Członkowska   +3 more
openaire   +2 more sources

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 ...
Lenartowicz Malgorzata, Torben Moos, Mateusz Ogorek, Thomas G Jensen, Lisbeth Birk Møller, Lisbeth Birk Møller   +5 more
openaire   +6 more sources

Dysfunction of ATP7B Splicing Variant Caused by Enhanced Interaction With COMMD1 in Wilson DiseaseSummary

Cellular and Molecular Gastroenterology and Hepatology
Background & Aims: The association between Wilson disease and various ATP7B mutations is well-established; however, the molecular mechanism underlying the functional consequence of these mutations, particularly the splicing mutations, remains unclear.
Donghu Zhou, Huaduan Zi, Xiaoxi Yang, Xiaojin Li, Yanmeng Li, Anjian Xu, Bei Zhang, Wei Zhang, Xiaojuan Ou, Jidong Jia, Jian Huang, Hong You   +11 more
doaj   +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