Results 31 to 40 of about 8,657 (242)

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

Regulation of apico-basolateral trafficking polarity of homologous Copper-ATPases ATP7A and ATP7B

bioRxiv, 2023
We suggest a model of apico-basolateral sorting in polarized epithelia using homologous Cu-ATPases as membrane cargoes. In polarized epithelia, upon copper treatment, homologous copper-ATPases ATP7A and ATP7B traffic from trans-Golgi network (TGN) to ...
Ruturaj, M. Mishra, Soumyendu Saha, Saptarshi Maji, E. Rodriguez-Boulan, Ryan Schreiner, Arnab Gupta   +6 more
semanticscholar   +1 more source

Functional characterization of novel or yet uncharacterized ATP7B missense variants detected in patients with clinical Wilson's disease

Clinical Genetics, 2023
Wilson's disease (WD, MIM#277900) is an autosomal recessive disorder resulting in copper excess caused by biallelic variants in the ATP7B gene (MIM#606882) encoding a copper transporting P‐type ATPase.
Amelie Stalke, A. Behrendt, Finja Hennig, H. Gohlke, Nicole Buhl, T. Reinkens, U. Baumann, B. Schlegelberger, T. Illig, E. Pfister, B. Skawran   +10 more
semanticscholar   +1 more source

Single nucleotide polymorphisms in the humanATP7Bgene modify the properties of the ATP7B protein [PDF]

Metallomics, 2019
AbstractSingle nucleotide polymorphisms (SNPs) are the largest source of sequence variation in the human genome. However, their functional significance is not well understood. We show that SNPs in the Wilson disease gene, ATP7B, that produce amino-acid substitutions K832R and R952K, modulate ATP7B properties in vitro and influence serum copper (Cu ...
Courtney J, McCann, Samuel, Jayakanthan, Mariacristina, Siotto, Nan, Yang, Maria, Osipova, Rosanna, Squitti, Svetlana, Lutsenko   +6 more
openaire   +2 more sources

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

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

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

Copper Imbalance in Alzheimer’s Disease: Meta-Analysis of Serum, Plasma, and Brain Specimens, and Replication Study Evaluating ATP7B Gene Variants

Biomolecules, 2021
Evidence indicates that patients with Alzheimer’s dementia (AD) show signs of copper (Cu) dyshomeostasis. This study aimed at evaluating the potential of Cu dysregulation as an AD susceptibility factor.
R. Squitti, M. Ventriglia, I. Simonelli, C. Bonvicini, Alfredo Costa, G. Perini, G. Binetti, L. Benussi, R. Ghidoni, G. Koch, B. Borroni, A. Albanese, S. Sensi, M. Rongioletti   +13 more
semanticscholar   +1 more source

ATP7B gene therapy of autologous reprogrammed hepatocytes alleviates copper accumulation in a mouse model of Wilson’s disease

Hepatology, 2022
Wilson’s disease (WD) is a rare hereditary disorder due to ATP7B gene mutation, causing pathologic copper storage mainly in the liver and neurological systems.
Hongxia Cai, Xin Cheng, Xiao-Ping Wang
semanticscholar   +1 more source

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