Methylmalonyl-CoA mutase, mitochondrial
Definition:
References:
-
[1]. Hongying Shen, et al. The Human Knockout Gene CLYBL Connects Itaconate to Vitamin B12. Cell. 2017 Nov 2;171(4):771-782.e11. [Content Brief]
[2]. M F Wilkemeyer, et al. Primary structure and activity of mouse methylmalonyl-CoA mutase. Biochem J. 1990 Oct 15;271(2):449-55. [Content Brief]
[3]. F D Ledley, et al. Molecular cloning of L-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell lines. Proc Natl Acad Sci U S A. 1988 May;85(10):3518-21. [Content Brief]
[4]. Tóshiko Takahashi-Íñiguez, et al. Protection and reactivation of human methylmalonyl-CoA mutase by MMAA protein. Biochem Biophys Res Commun. 2011 Jan 7;404(1):443-7. [Content Brief]
[5]. Lian-Shu Han, et al. Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. World J Pediatr. 2017 Aug;13(4):381-386. [Content Brief]
[6]. Patrick Forny, et al. Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency. Hum Mutat. 2014 Dec;35(12):1449-58. [Content Brief]
[7]. Patrick Forny, et al. Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT. Hum Mutat. 2016 Aug;37(8):745-54. [Content Brief]
[8]. A M Crane, et al. Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria. J Clin Invest. 1992 Feb;89(2):385-91. [Content Brief]
[9]. Toshiko Takahashi-Iñiguez, et al. Human MMAA induces the release of inactive cofactor and restores methylmalonyl-CoA mutase activity through their complex formation. Biochimie. 2017 Nov;142:191-196. [Content Brief]
[10]. E P Frenkel, et al. Intracellular localization of hepatic propionyl-CoA carboxylase and methylmalonyl-CoA mutase in humans and normal and vitamin B12 deficient rats. Br J Haematol. 1975 Dec;31(4):501-13. [Content Brief]