Results 81 to 90 of about 3,078 (183)

Gram‐Scale Synthesis of an Arylsulfonamide‐Type Alkaline Phosphatase Inhibitor

ChemMedChem, Volume 21, Issue 4, 25 February 2026.
A larger amount of a tissue‐nonspecific alkaline phosphatase inhibitor, 5‐((5‐chloro‐2‐methoxyphenyl)sulfonamido)nicotinamide, was synthesized in five steps using a parallel method without the need for chromatography or crystallization. Because a single batch was used for in vivo studies in a large population of mice, the pharmacological results were ...
Zsolt Rapi, Krisztina Fülöp, Zoltán Mucsi   +2 more
wiley   +1 more source

Pseudoxanthoma elasticum

Orphanet Journal of Rare Diseases, 2017
Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization that is most apparent in the elastic tissues of
Dominique P. Germain
doaj   +1 more source

Cell Calcification Models and Their Implications for Medicine and Biomaterial Research

Advanced Healthcare Materials, Volume 15, Issue 6, 9 February 2026.
Calcification, is the process by which the tissues containing minerals are formed, occurring during normal physiological processes, or in pathological conditions. Here, it is aimed to give a comprehensive overview of the range of cell models available, and the approaches taken by these models, highlighting when and how methodological divergences arise,
Luke Hunter, Caterina Vanelli Coralli, Robert Dzhanaev, Aaron Morgan, Willi Jahnen‐Dechent, Sergio Bertazzo   +5 more
wiley   +1 more source

ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release.

, 2013
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease characterized by progressive ectopic mineralization of the skin, eyes, and arteries, for which no effective treatment exists.
Jansen, R.S., Gorgels, T.G.M.F., Otero, Jon Andoni, Gorgels, Theo G.M.F., Sapthu, Sunny, Otero, J.A., Bergen, Arthur A.B., Hegman, I.E.M., Jansen, Robert S., Gorgels, Theo G. M. F., Van de Wetering, K., Bergen, A.A.B., Hegman, Ilse E. M., Kucukosmanoglu, A., De Haas, M., Borst, P., de Haas, Marcel, Bergen, Arthur A. B., Küçükosmanoǧlu, Asli, Küçükosmanoglu, Aslı, van de Wetering, Koen, Hegman, Ilse E.M., Sapthu, S.   +22 more
core   +1 more source

Generation of fully functional fluorescent fusion proteins to gain insights into ABCC6 biology

, 2021
ABCC6 mediates release of ATP from hepatocytes into the blood. Extracellularly, ATP is converted into the mineralization inhibitor pyrophosphate. Consequently, inactivating mutations in ABCC6 give low plasma pyrophosphate and underlie the ectopic ...
Niaziorimi, Fatemeh, Sylvia Donnelly, Koen van de Wetering, Donnelly, Sylvia, Orndorff, Joseph, Szeri, Flóra, Joseph Orndorff, Flora Szeri, van de Wetering, Koen, Fatemeh Niaziorimi   +9 more
core   +1 more source

Expression and DNA methylation of 20S proteasome subunits as prognostic and resistance markers in cancer

Molecular Oncology, Volume 19, Issue 12, Page 3729-3749, December 2025.
Comprehensive analysis of genomic mutations, gene expression, DNA methylation, and pathway analysis of TCGA data was carried out to define cancer types in which proteasome subunits expression is associated with worse survival. Albeit the effect of specific proteasome subunits on cellular function, the main role of the proteasome is better evaluated ...
Ruba Al‐Abdulla, Simone Venz, Ruslan Al‐Ali, Martin Wendlandt, Mandy Radefeldt, Elke Krüger   +5 more
wiley   +1 more source

Functional and Transcriptional Disruption of Hepatic ABC Transporters by Environmentally Relevant Short‐Chain Per‐ and Polyfluoroalkyl Substances (PFAS)

Journal of Biochemical and Molecular Toxicology, Volume 39, Issue 12, December 2025.
Low‐dose short‐chain PFAS exposures enhance hepatic ABC transporter activity and expression, revealing that environmentally relevant concentrations can reprogram xenobiotic transport pathways and potentially influence drug metabolism, bile acid handling, and lipid homeostasis, highlighting a molecular link between chronic PFAS exposure and altered ...
Gracen E. Collier, Ramon Lavado
wiley   +1 more source

Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum. [PDF]

, 2005
Contains fulltext : 32422.pdf (Publisher’s version ) (Open Access)Pseudoxanthoma elasticum (PXE) is a heritable disorder of connective tissue, affecting mainly skin, eye and the cardiovascular system.
Levelt, C.C., Toonstra, J., Toonstra, Johan, Peek, Ron, de Wolf, Anneke, Scheffer, George L., Gorgels, T.G., Hu, Xiaofeng, Jong, P.T.V.M. de, Peek, R., Loves, Willem J. P., van der Wal, Allard C., Scheper, Rik J., Kuppevelt, A.H.M.S.M. van, Hu, X., Bergen, A.A.B., Scheper, R.J., Bergen, Arthur A. B., Scheffer, G.L., Wolf, A., de Jong, Paulus T. V. M., Levelt, Christiaan N., van Kuppevelt, Toin H., Wal, A. van der, Gorgels, Theo G. M. F., Loves, W.J.   +25 more
core   +1 more source

Pseudoxanthoma elasticum: cardiac findings in patients and Abcc6-deficient mouse model.

PLoS ONE, 2013
BackgroundPseudoxanthoma elasticum (PXE), caused by mutations in the ABCC6 gene, is a rare multiorgan disease characterized by the mineralization and fragmentation of elastic fibers in connective tissue.
Fabrice Prunier, Gwenola Terrien, Yannick Le Corre, Ailea L Y Apana, Loïc Bière, Gilles Kauffenstein, Alain Furber, Arthur A B Bergen, Theo G M F Gorgels, Olivier Le Saux, Georges Leftheriotis, Ludovic Martin   +11 more
doaj   +1 more source

Rescue of ABCC6 trafficking by low temperature expression.

, 2014
Low temperature expression was used to further evaluate ABCC6 trafficking in HEK293 cells. A, western blots showing the expression of the wildtype and Δ6-COOH ABCC6 proteins at 37°C and 27°C.
Patrick H. Thibodeau (565940), Chelsea M. Crum (565939), Peng Xue (219948)   +2 more
core   +1 more source