Results 11 to 20 of about 8,657 (242)

RBM15 Mediated m6A Modification of SRSF1 Inhibits Cuproptosis in Non-Small Cell Lung Cancer by Mediating ATP7B Alternative Splicing. [PDF]

Kaohsiung J Med Sci
ABSTRACT Inhibition of cuproptosis contributes to the development of non‐small cell lung cancer (NSCLC). The expression of RNA‐binding motif protein 15 (RBM15) is upregulated in NSCLC. Nonetheless, its relationship with cuproptosis remains unclear. This study aimed to explore the role of RBM15 in regulating cuproptosis in NSCLC. A549 cells were treated
Mao SS, Wu DY, Cui RH, Cheng XZ.
europepmc   +3 more sources

Structure of the Wilson disease copper transporter ATP7B [PDF]

Science Advances, 2022
ATP7A and ATP7B, two homologous copper-transporting P1B-type ATPases, play crucial roles in cellular copper homeostasis, and mutations cause Menkes and Wilson diseases, respectively.
Ryan M Bitter, SeCheol Oh, Z. Deng, Suhaila Rahman, R. Hite, P. Yuan   +5 more
semanticscholar   +4 more sources

Expression of ATP7B in normal human liver

European Journal of Histochemistry, 2009
ATP7B is a copper transporting P-type ATPase, also known as Wilson disease protein, which plays a key role in copper distribution inside cells.
D Fanni, L Pilloni, S Orrù, P Coni
doaj   +5 more sources

Copper binding leads to increased dynamics in the regulatory N-terminal domain of full-length human copper transporter ATP7B.

PLoS Computational Biology, 2022
ATP7B is a human copper-transporting P1B-type ATPase that is involved in copper homeostasis and resistance to platinum drugs in cancer cells. ATP7B consists of a copper-transporting core and a regulatory N-terminal tail that contains six metal-binding ...
Fredrik Orädd, Jonas Hyld Steffen, Pontus Gourdon, Magnus Andersson   +3 more
doaj   +2 more sources

Analysis of Wilson disease mutations in copper binding domain of ATP7B gene

PLoS ONE, 2022
Wilson’s disease (WD) is an autosomal recessive disorder, resulting from variations in ATP7B gene. Clinical heterogeneity, including neuropsychiatric and hepatic manifestations over a large range of age groups make diagnosis difficult.
Bushra Gul, Sabika Firasat, Raeesa Tehreem, Tayyaba Shan, Kiran Afshan   +4 more
openalex   +3 more sources

Novel and less invasive biomarker assays to measure liver ATP7B in Wilson disease patients [PDF]

Scientific Reports
Novel therapies for Wilson disease (WD) will require appropriate biomarkers and clinically relevant endpoints to demonstrate therapeutic efficacy. We aimed to develop robust, minimally invasive biomarker assays to assess target engagement in future ...
Rosanna J. Jiang, Lucy Chen, Kimberly Amburgey, Danie P. M. La, Brodie Fischbacher, Erle M. Holgersen, Lucienne Ronco, Adam J. Gehring, Jordan J. Feld, Kahlin Cheung-Ong   +9 more
doaj   +2 more sources

Genetic screening of ATP7B gene in Iranian Wilson disease patients: a diverse landscape of pathogenic variants [PDF]

Egyptian Journal of Medical Human Genetics
Background Wilson’s disease (WD) is an autosomal recessive condition caused by mutations in the ATP7B gene, leading to the copper accumulation in various organs. Data on the ATP7B mutation spectrum in Iran and the Middle East are insufficient. This study
Seyyed-Saleh Hashemi, Seyed Ali Jafari, Aida Gholoobi, Tayebeh Hamzehloei   +3 more
doaj   +2 more sources

Systematic Analysis and Insights Into the Mutation Spectrum and Ethnic Differences in ATP7B Mutations Associated With Wilson Disease

Biomarker Insights
Background: ATP7B (ATPase copper transporting beta gene) is constituted of 21 exons, and codes for a 1465 amino acid. The protein of ATP7B plays an key role of copper metabolism.
Thuan Duc Lao, Thuy Ai Huyen Le
doaj   +2 more sources

Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.

PLoS ONE, 2019
Wilson disease (WD) is an autosomal recessive disorder, characterized by excessive deposition of copper in various parts of the body, mainly in the liver and brain. It is caused by mutations in ATP7B.
Nivedita Singh, Pradeep Kallollimath, Mohd Hussain Shah, Saketh Kapoor, Vishwanath Kumble Bhat, Lakshminarayanapuram Gopal Viswanathan, Madhu Nagappa, Parayil S Bindu, Arun B Taly, Sanjib Sinha, Arun Kumar   +10 more
doaj   +2 more sources

From Radiocopper to Cold Copper: Mechanistic Modeling and Simulation to Define Clinical Response Criteria and Biomarkers for VTX-801 in Wilson Disease. [PDF]

CPT Pharmacometrics Syst Pharmacol
ABSTRACT We developed a comprehensive, mechanistic model of human copper metabolism to support biomarker qualification for VTX‐801, an adeno‐associated vector‐based gene therapy which is being developed to restore the mutated ATP7B copper transporter gene in Wilson disease (WD). The model integrates physiological copper kinetics with pathophysiological
Lindauer A, Benichou B, González Aseguinolaza G, Combal JP.   +3 more
europepmc   +2 more sources