Results 41 to 50 of about 51,803 (231)

Erythrocyte inosine triphosphatase activity is decreased in HIV-seropositive individuals.

PLoS ONE, 2012
BackgroundInosine triphosphatase (ITPase) is encoded by the polymorphic gene ITPA and maintains low intracellular levels of the inosine nucleotides ITP and dITP. The most frequently reported polymorphisms are ITPA c.94C>A (rs 1127354) and ITPA c.
Jörgen Bierau, Jaap A Bakker, Jolanda A Schippers, Janine A C Grashorn, Martijn Lindhout, Selwyn H Lowe, Aimée D C Paulussen, Annelies Verbon   +7 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

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo, Francesca Sardina, Maria M. Pallotta, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Cinzia Rinaldo, Ian D. Krantz, Antonio Musio   +7 more
wiley   +1 more source

High inorganic triphosphatase activities in bacteria and mammalian cells: identification of the enzymes involved. [PDF]

PLoS ONE, 2012
BACKGROUND: We recently characterized a specific inorganic triphosphatase (PPPase) from Nitrosomonas europaea. This enzyme belongs to the CYTH superfamily of proteins.
Gregory Kohn, David Delvaux, Bernard Lakaye, Anne-Catherine Servais, Georges Scholer, Marianne Fillet, Benjamin Elias, Jean-Michel Derochette, Jacques Crommen, Pierre Wins, Lucien Bettendorff   +10 more
doaj   +1 more source

Ethanol Induced Disordering of Pancreatic Acinar Cell Endoplasmic Reticulum: An ER Stress/Defective Unfolded Protein Response Model. [PDF]

, 2018
Background & aimsHeavy alcohol drinking is associated with pancreatitis, whereas moderate intake lowers the risk. Mice fed ethanol long term show no pancreas damage unless adaptive/protective responses mediating proteostasis are disrupted. Pancreatic
Abrol, Ravinder, Capri, Joseph, Cohn, Whitaker, Faull, Kym F, Freeman, Michael R, Lugea, Aurelia, Pandol, Stephen J, Piplani, Honit, Sakkiah, Sugunadevi, Su, Hsin-Yuan, Waldron, Richard T, Whitelegge, Julian P, Yang, Wei, Zhou, Bo   +13 more
core   +3 more sources

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao   +20 more
wiley   +1 more source

Characterizing Adrenergic Regulation of Glucose Transporter 4-Mediated Glucose Uptake and Metabolism in the Heart

JACC: Basic to Translational Science, 2023
Summary: Whereas adrenergic stimulation promotes cardiac function that demands more fuel and energy, how this receptor controls cardiac glucose metabolism is not defined.
Aleksandra Jovanovic, PhD, Bing Xu, BS, Chaoqun Zhu, PhD, Di Ren, PhD, Hao Wang, PhD, Meredith Krause-Hauch, PhD, E. Dale Abel, PhD, MD, Ji Li, PhD, Yang K. Xiang, PhD   +8 more
doaj   +1 more source

Severe thrombocytopenia in a patient with inosine triphosphatase (ITPA)–CC genotype caused by pegylated interferon (IFN)-α-2a with ribavirin therapy: a case report [PDF]

, 2014
BACKGROUND: Pegylated interferon combined with ribavirin treatment is an effective therapy for chronic hepatitis C viral infection. However, pegylated interferon combined with ribavirin is associated with various adverse reactions.
Hiroyuki Kitagawa, Hisashi Hidaka, Takahide Nakazawa, Wasaburo Koizumi, Weimin Jiang   +4 more
core   +1 more source

Women with epilepsy: Evidence‐based counseling across the lifespan

Epilepsia, EarlyView.
Abstract Women with epilepsy (WWE) encounter distinct and evolving challenges across the lifespan that require clinical management extending beyond seizure control alone. Although awareness of sex‐specific aspects of epilepsy has increased, important gaps remain in their integration into routine care.
Barbara Tettenborn, Georgia Ramantani, Dominique Flügel, Verena Gaus, Susanne Schubert‐Bast, Elisabeth Sellitto, Jennifer Bausch, Bettina Schmitz   +7 more
wiley   +1 more source

Myosin IXb is involved in multiple pathological conditions [PDF]

PeerJ
Myosin IXb (Myo9b) is a single-headed motor protein in the myosin superfamily. It contains a unique Rho guanosine triphosphatase-activating protein domain, which enables it to regulate cytoskeletal dynamics and cell migration.
Shufeng Dong, Kai Wang, Feng-Shuang Yi, Yonglei Hu, Xin Zhang   +4 more
doaj   +2 more sources