Genetic and genomic systems to study methylmalonic acidemia

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• 作者：R.J. Chandler and C.P. Venditti
• 关键词：Methylmalonic acidemia ; Cobalamin deficiency ; Methylmalonyl-CoA mutase ; MMAA ; MMAB ; Caenorhabditis elegans ; Mouse models ; Molecular genetics ; Genomics
• 刊名：Molecular Genetics and Metabolism
• 出版年：2005
• 期刊代码：175_10967192
• 类别：bio
• 出版时间：2005
• 卷：86
• 期：1-2
• 页码：34-43
• 文件大小：434 K

摘要

Methylmalonic acidemia (MMAemia) is the biochemical hallmark of a group of genetic metabolic disorders that share a common defect in the ability to convert methylmalonyl-CoA into succinyl-CoA. This disorder is due to either a mutant methylmalonyl-CoA mutase apoenzyme or impaired synthesis of adenosylcobalamin, the cofactor for this enzyme. In this article, we will provide an overview of the pathways disrupted in these disorders, discuss the known metabolic blocks with a particular focus on molecular genetics, and review the use of selected model organisms to study features of methylmalonic acidemia.