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Biochem Eng J

10.1073/pnas.2011350117 77 ZhangW.DouradoD

Stickler syndrome: clinical characteristics and diagnostic criteria

Additionally, in some cases, the provision of ATP for GSH synthesis could represent another limiting factor

Mutations in SOD1 can cause familial ALS (several pieces of evidence also show that wild-type SOD1, under conditions of cellular stress, is implicated in a significant fraction of sporadic ALS cases, which represent 90% of ALS patients.), [58] by a mechanism that is presently not understood, but not due to loss of enzymatic activity or a decrease in the conformational stability of the SOD1 protein