Article

Mitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria

2024-03-16

Abstract excerpt

Methylmalonic aciduria (MMA) is an inborn error of metabolism resulting in loss of function of the enzyme methylmalonyl-CoA mutase (MMUT). Despite acute and persistent neurological symptoms, the pathogenesis of MMA in the central nervous system is poorly understood, which has contributed to a dearth of effective brain specific treatments. Here we utilised patient-derived induced pluripotent stem cells and in vitr...

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Literature Corpus work: 351f5d61-7307-5a78-84da-182e25949e08
DOI: 10.1101/2024.03.15.585183

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