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Presumably, the interaction between Arg240 and the carboxylate group of L -DOPA and L -tyrosine (which are most probably of ionic nature as the amide group is mainly charged at the investigated pH) is too strong, resulting in the amide-containing substrates (tyramine and dopamine) being held in place by Arg240

Increased Gb3 expression and lipid accumulation in GLA-KO human iPSC kidney organoids Next, to determine the accumulation of Gb3, a main pathological mechanism in human Fabry disease 6,7 , confocal microscopy was performed, which revealed extensive accumulation of Gb3 in podocytes and tubular cells in GLA-mutant human iPSC kidney organoids (Fig

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Thus, bile flow and excretion of bilirubin into the intestine are normal, and there is no intrahepatic retention or impaired bile flow, which are the hallmarks of cholestasis

129 PeschelN.VeleriS.StanewskyR