Results 61 to 70 of about 8,657 (242)

ATP7B expression confers multidrug resistance through drug sequestration

Oncotarget, 2016
We previously reported that ATP7B is involved in cisplatin resistance and ATP7A confers multidrug resistance (MDR) in cancer cells.In this study, we show that ATP7B expressing cells also are resistant to doxorubicin, SN-38, etoposide, and paclitaxel as well as cisplatin.In ATP7B expressing cells, doxorubicin relocated from the nuclei to the late ...
Moinuddin, F M, Shinsato, Yoshinari, Komatsu, Masaharu, Mitsuo, Ryoichi, Minami, Kentaro, Yamamoto, Masatatsu, Kawahara, Kohich, Hirano, Hirofumi, Arita, Kazunori, Furukawa, Tatsuhiko   +9 more
openaire   +3 more sources

Copper-dependent trafficking of Wilson disease mutant ATP7B proteins [PDF]

Human Molecular Genetics, 2000
We have previously developed a functional assay in yeast for the copper transporter, ATP7B, defective in Wilson disease (WND). Analysis of WND variant ATP7B proteins revealed that several were able to completely, or nearly completely, complement a mutant yeast strain in which the ATP7B ortholog CCC2 was disrupted, indicating that these ATP7B proteins ...
J R, Forbes, D W, Cox
openaire   +2 more sources

‘What's in a Name?’ Naming Genetically Determined Movement Disorders: Gap and Controversy

Movement Disorders, EarlyView.
Abstract In 2016, the International Parkinson and Movement Disorder Society (MDS) Task Force for Genetic Nomenclature in Movement Disorders laid out a new proposal for naming genetically determined movement disorders. This proposal sought to address the difficulties arising from the practical usage of numbered loci (eg, DYT1, DYT2, DYT3, etc.) as names
Connie Marras, Alberto Albanese, Mark Hallett, Christine Klein, Katja Lohmann, the Genetic Nomenclature in Movement Disorders Study Group Steering Committee, Christos Ganos, Sarah Camargos, Anthony E. Lang, Darius Ebrahimi‐Fakhari, Claudia Del Gamba, Bart van de Warrenburg, Lakshya Basumatary, Lara Lange, Diana Olszewska, Zhidong Cen, Kishore Kumar, Mohamed Zahir, Carolyn Sue, H.A. Jinnah   +19 more
wiley   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

Analyzing the Therapeutic Efficacy of Bis-Choline-Tetrathiomolybdate in the Atp7b−/− Copper Overload Mouse Model

Biomedicines, 2021
Bis-choline-tetrathiomolybdate, introduced as WTX101 (now known as ALXN1840), is a first-in-class copper-protein-binding agent for oral therapy of Wilson’s disease.
P. Kim, C. Zhang, Sven Thoröe-Boveleth, E. M. Buhl, S. Weiskirchen, W. Stremmel, U. Merle, R. Weiskirchen   +7 more
semanticscholar   +1 more source

Unraveling Lysosomal Exocytosis: From Molecular Mechanisms to Physiological Functions

Traffic, Volume 27, Issue 1, March 2026.
Lysosomal exocytosis is propelled by specific molecular mechanisms that direct its microtubule‐dependent transport and subsequent fusion with the plasma membrane. This process fulfills essential physiological functions such as plasma membrane repair, maintenance of cellular homeostasis, and participation in signal transduction.
Shanshan Jiang, Jingyi Fu, Shan Li, Zehui Li, Qirui Zhao, Yuqi Yin, Mei Yang, Yonghua Wang   +7 more
wiley   +1 more source

Geographic distribution of ATP7B mutations in Wilson disease

Annals of Human Biology, 2015
Geographic distribution of ATP7B mutations in different populations.To summarise common mutations in the ATP7B gene and graphically illustrate their prevalence in different populations.A literature search was done using PubMed and the Wilson Disease Mutation Database (http://www.wilsondisease.med.ualberta.ca/database).p.His1069Gln is the most prevalent
Amanda, Gomes, George V, Dedoussis
openaire   +2 more sources

p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease

JIMD Reports, 2020
Background Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by inherited defects in the ATP7B gene and results in toxic accumulation of copper in various organs.
Fan Yi, Sheri A. Poskanzer, Candace T. Myers, Jenny Thies, Christopher J. Collins, Remwilyn Dayuha, Phi Duong, Roderick Houwen, Si Houn Hahn   +8 more
doaj   +1 more source

ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease

Human Genetics, 2020
Wilson disease (WD) is a genetic disorder of copper metabolism caused by variants in the copper transporting P-type ATPase gene ATP7B. Estimates for WD population prevalence vary with 1 in 30,000 generally quoted.
D. Wallace, J. Dooley
semanticscholar   +1 more source

Genetic variants underlying precancerous conditions of hepatocellular carcinoma

International Journal of Cancer, Volume 158, Issue 3, Page 488-502, 1 February 2026.
Abstract Hepatocellular carcinoma (HCC) is the most common form of liver cancer, accounting for 80% of cases worldwide. While chronic hepatitis B and C infections remain primary risk factors, emerging evidence highlights the increasing contributions of metabolic dysfunction‐associated steatotic liver disease (MASLD) and alcohol‐associated liver disease
Jonathan Jaime G. Guerrero, Paolo C. Encarnacion, Mark Angelo S. del Rosario, Matthew Aldren S. Ora, Jiayan Zhou, Kin Israel Notarte, Wan‐Chun Li, Ching‐Wen Chang   +7 more
wiley   +1 more source