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The teams findings illuminate how mutations in SLC33A1 disrupt this glutathione transport pathway, offering a molecular explanation for neurodevelopmental disorders such as Huppke-Brindle Syndrome, characterized by severe intellectual disability and progressive neurodegeneration
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Kolovrat M et al
GanetzkyRDStendelCMcCormickEMZolkipli-CunninghamZGoldsteinACKlopstockTet al
Biology (Basel)
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