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Article

Cellular and computational models reveal environmental and genetic interactions in <i>MMUT</i> -type methylmalonic aciduria

2022-08-12

Abstract excerpt

MMUT-type methylmalonic aciduria is a rare inherited metabolic disease caused by the loss of function of the methylmalonyl-CoA mutase (MMUT) enzyme. Patients develop symptoms resembling those of primary mitochondrial disorders, but the underlying causes of mitochondrial dysfunction remain unclear. Here, we examined environmental and genetic interactions in MMUT deficiency using a combination of computational model...

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Literature Corpus work
5dcb051e-79a1-5e22-92c3-28f191883710
DOI
10.1101/2022.08.10.503435
Open publication

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Cellular and computational models reveal environmental and genetic interactions in <i>MMUT</i> -type methylmalonic aciduriaDOI 10.1101/2022.08.10.503435
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