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Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.
Kousal B, Majer F, Vlaskova H, Dvorakova L, Piherova L, Meliska M, Langrova H, Palecek T, Kubanek M, Krebsova A, Gurka J, Stara V, Michaelides M, Kalina T, Sikora J, Liskova P. Kousal B, et al. Among authors: majer f. Acta Ophthalmol. 2021 Feb;99(1):61-68. doi: 10.1111/aos.14478. Epub 2020 Jun 13. Acta Ophthalmol. 2021. PMID: 32533651
New fluorescent bile acids: synthesis, chemical characterization, and disastereoselective uptake by Caco-2 cells of 3-deoxy 3-NBD-amino deoxycholic and ursodeoxycholic acid.
Májer F, Salomon JJ, Sharma R, Etzbach SV, Najib MN, Keaveny R, Long A, Wang J, Ehrhardt C, Gilmer JF. Májer F, et al. Bioorg Med Chem. 2012 Mar 1;20(5):1767-78. doi: 10.1016/j.bmc.2012.01.002. Epub 2012 Jan 12. Bioorg Med Chem. 2012. PMID: 22316556
The active transport process was saturable, with Michaelis-Menten constants for 3alpha-NBD DCA (5) being K(m)=42.2712.98 muM and V(max)=2.8 0.4 nmol/(mg protein*min) and for 3alpha-NBD UDCA (3) K(m)=28.20 7.45 muM and V(max)=1.8 0.2 nmol/(mg protein*min). ...
The active transport process was saturable, with Michaelis-Menten constants for 3alpha-NBD DCA (5) being K(m)=42.2712.98 muM and V(ma …