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doi: 10.2741/henderson

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These mutations result in toxic gain- and loss-of-function effects, which impair essential cellular processes

The synthesis of GSH from its constituent amino acids involves two ATP-requiring enzymatic steps: (1) the first step is rate-limiting and catalyzed by GCL which is composed of two subunits: one catalytic (GCLC) and one modifier (GCLM): (2) The second step is catalyzed by GSH synthetase (GS) [19]: Although GS is generally thought not to be important in the regulation of GSH synthesis, accumulating evidence suggests that GS may play an important role, at least in certain tissues and/or under stressful conditions [20]

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