Results 31 to 40 of about 76,676 (194)

The masked cysteine residues in methylmalonyl-CoA mutase from Propionibacterium shermanii are essential for catalytic activity [PDF]

, 1996
Two masked cysteine residues have been reported in methylmalonyl-CoA mutase from Propionibacterium shermanii, Cys-535 in the α-subunit and Cys-517 in the β-unit, which are revealed only after reduction of the denatured enzyme with dithiothreitol.
Roy, I., Roy, Ipsita
core   +1 more source

Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia

Cell Reports, 2017
Summary: Isolated methylmalonic acidemia/aciduria (MMA) is a devastating metabolic disorder with poor outcomes despite current medical treatments. Like other mitochondrial enzymopathies, enzyme replacement therapy (ERT) is not available, and although ...
Ding An, Jessica L. Schneller, Andrea Frassetto, Shi Liang, Xuling Zhu, Ji-Sun Park, Matt Theisen, Sue-Jean Hong, Jenny Zhou, Raj Rajendran, Becca Levy, Rebecca Howell, Gilles Besin, Vladimir Presnyak, Staci Sabnis, Kerry E. Murphy-Benenato, E. Sathyajith Kumarasinghe, Timothy Salerno, Cosmin Mihai, Christine M. Lukacs, Randy J. Chandler, Lin T. Guey, Charles P. Venditti, Paolo G.V. Martini   +23 more
doaj   +1 more source

Primary structure and activity of mouse methylmalonyl-CoA mutase [PDF]

Biochemical Journal, 1990
Methylmalonyl-CoA mutase (MCM) is an adenosylcobalamin-dependent enzyme that catalyses isomerization between methylmalonyl-CoA and succinyl-CoA (3-carboxypropionyl-CoA). Genetic deficiency of this enzyme in man causes an often fatal disorder of organic acid metabolism termed mut methylmalonicacidaemia.
M F, Wilkemeyer, A M, Crane, F D, Ledley
openaire   +2 more sources

Long-term efficacy and safety of mRNA therapy in two murine models of methylmalonic acidemiaResearch in context

EBioMedicine, 2019
Background: Isolated methylmalonic acidemia/aciduria (MMA) is an ultra-rare, serious, inherited metabolic disorder with significant morbidity and mortality.
Ding An, Andrea Frassetto, Eric Jacquinet, Marianne Eybye, Joseph Milano, Christine DeAntonis, Vi Nguyen, Rodrigo Laureano, Jaclyn Milton, Staci Sabnis, Christine M. Lukacs, Lin T. Guey   +11 more
doaj   +1 more source

Construction of a novel anaerobic pathway in Escherichia coli for propionate production

BMC Biotechnology, 2017
Background Propionate is widely used as an important preservative and important chemical intermediate for synthesis of cellulose fibers, herbicides, perfumes and pharmaceuticals.
Jing Li, Xinna Zhu, Jing Chen, Dongdong Zhao, Xueli Zhang, Changhao Bi   +5 more
doaj   +1 more source

Clinical presentation, molecular analysis and follow-up of patients with mut methylmalonic acidemia in Shandong province, China

Pediatrics and Neonatology, 2020
Background: The mut methylmalonic acidemia (MMA) caused by the deficiency of methylmalonyl-CoA mutase (MCM) activity, which results from defects in the MUT gene.
Bingjuan Han, Wenying Nie, Meng Sun, Yingxia Liu, Zhiyang Cao   +4 more
doaj   +1 more source

Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle

BMC Medical Genetics, 2007
Background Mutations in methylmalonyl-CoA mutase cause methylmalonic acidemia, a common organic aciduria. Current treatment regimens rely on dietary management and, in severely affected patients, liver or combined liver-kidney transplantation.
Kaestner Klaus H, Allen Robert, Stabler Sally, Tsai Matthew, Fu Hong, Sloan Jennifer, Chandler Randy J, Kazazian Haig H, Venditti Charles P   +8 more
doaj   +1 more source

Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut‐type methylmalonic acidemia: A retrospective study

Molecular Genetics & Genomic Medicine, 2021
Background To summarize the relationship between different MMUT gene mutations and the response to vitamin B12 in MMA. Methods This was a retrospective study of patients diagnosed with mut‐type MMA.
Yue Yu, Ruixue Shuai, Lili Liang, Wenjuan Qiu, Linghua Shen, Shengnan Wu, Haiyan Wei, Yongxing Chen, Chiju Yang, Peng Xu, Xigui Chen, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Jun Ye, Huiwen Zhang, Deyun Lu, Zhuwen Gong, Xia Zhan, Wenjun Ji, Xuefan Gu, Lianshu Han   +22 more
doaj   +1 more source

Cofactor Selectivity in Methylmalonyl Coenzyme A Mutase, a Model Cobamide-Dependent Enzyme

mBio, 2019
Cobamides, a uniquely diverse family of enzyme cofactors related to vitamin B12, are produced exclusively by bacteria and archaea but used in all domains of life.
Olga M. Sokolovskaya, Kenny C. Mok, Jong Duk Park, Jennifer L. A. Tran, Kathryn A. Quanstrom, Michiko E. Taga   +5 more
doaj   +1 more source

Decrease of disease‐related metabolites upon fasting in a hemizygous knock‐in mouse model (Mut‐ko/ki) of methylmalonic aciduria

JIMD Reports, 2021
Methylmalonyl‐CoA mutase (MMUT) is part of the propionyl‐CoA catabolic pathway, responsible for the breakdown of branched‐chain amino acids, odd‐chain fatty acids and the side‐chain of cholesterol.
Marie Lucienne, Déborah Mathis, Nathan Perkins, Ralph Fingerhut, Matthias R. Baumgartner, D. Sean Froese   +5 more
doaj   +1 more source