Methylmalonic Acidemias (MMNAs) are heterogenoeus severe autosomal recessive inborn errors of metabolism, MMNAs are caused by deficency of vitamin B12-dependent methylmalonyl-CoA mutase enzyme (MUT). Therefore, we used MUT silencing and a proteomic quantitative approach to define the pathways directly perturbed by this metabolic disease.
Quantitative analysis of dysregulated proteome in methylmalonic acidemia / Costanzo, Michele; Caterino, Marianna; Minopoli, Giuseppina; Santorelli, Lucia; P. Venditti, Charles; Ruoppolo, Margherita. - (2017), pp. 297-299. [10.1007/978-94-024-1113-3_20]
Quantitative analysis of dysregulated proteome in methylmalonic acidemia
Costanzo, Michele;Caterino, Marianna;Minopoli, Giuseppina;Ruoppolo, Margherita
2017
Abstract
Methylmalonic Acidemias (MMNAs) are heterogenoeus severe autosomal recessive inborn errors of metabolism, MMNAs are caused by deficency of vitamin B12-dependent methylmalonyl-CoA mutase enzyme (MUT). Therefore, we used MUT silencing and a proteomic quantitative approach to define the pathways directly perturbed by this metabolic disease.File in questo prodotto:
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