International journal of biological macromoleculesS-AdenosylmethionineHomocystinuriaCystathionine beta-SynthaseHumansAnimals
Structure-activity relationship of S-adenosylmethionine analogs as pharmacological chaperones for cystathionine beta-synthase-deficient homocystinuria.
Thilo M Philipp, Ela Mijatovic, Maria Petrosino, Kelly Ascencao, Teodoro Bottiglieri, Elmar Weinhold, Christian G Bochet, Csaba Szabo, Tomas Majtan
Published: 202610.1016/j.ijbiomac.2025.150016
Abstract
Classical homocystinuria (HCU), primarily caused by pathogenic missense mutations in cystathionine beta-synthase (CBS) gene, is an inherited conformational disorder with limited treatment options. While some patients benefit from pyridoxine supplemen…
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