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doi: 10.1186/s10020-025-01208-3 133 WallenZDStoneWJFactorSAMolhoEZabetianCPStandaertDGet al

In contrast, the K265G and the double K265G/K301G mutants severely impaired metabolic activity and cell viability, whereas the patient-derived E366G mutation caused only a moderate reduction of both (Fig