Results 81 to 90 of about 80,661 (193)

Fatal Case Report of Methylmalonic Acidemia: Reflections on Organic Acidemias in Colombia [PDF]

Journal of Inborn Errors of Metabolism and Screening
Methylmalonic acidemia (MMA) is a rare hereditary metabolic disorder caused by defects in the methylmalonyl-CoA mutase pathway, leading to toxic metabolite accumulation and severe multi-organ complications.
Ana María Zarante Bahamon, Juan Sebastián Rincón Redondo, Sandra Navarro Marroquin, Dairo Jesús Cera Cabarcas, Juan Carlos Prieto Rivera   +4 more
doaj   +1 more source

Methylmalonyl-CoA Mutase Induction by Cerebral Ischemia and Neurotoxicity of the Mitochondrial Toxin Methylmalonic Acid

, 1996
Differential screening of gerbil brain hippocampal cDNA libraries was used to search for genes expressed in ischemic, but not normal, brain. The methylmalonyl-CoA mutase (MCM) cDNA was highly expressed after ischemia and showed a 95% similarity to mouse ...
Purnima Narasimhan, Robert Sklar, Matthew Murrell, Raymond A. Swanson, Frank R. Sharp   +4 more
core   +1 more source

A combined approach of classical mutagenesis and rational metabolic engineering improves rapamycin biosynthesis and provides insights into methylmalonyl-CoA precursor supply pathway in Streptomyces hygroscopicus ATCC 29253

, 2021
Rapamycin is a macrocyclic polyketide with immunosuppressive, antifungal, and anticancer activity produced by Streptomyces hygroscopicus ATCC 29253.
윤여준
core   +1 more source

Insights into the kinetics and reaction mechanism of B(12)-dependent methylmalonyl-CoA mutase

, 2003
B12-dependent methylmalonyl-CoA mutase catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA in the degradation of odd-chain fatty acids, branched-chain amino acids and cholesterol to energetically useful metabolites.
Vlasie, Monica Diana
core  

Understanding the mechanism of B12-dependent methylmalonyl-CoA mutase: partial proton transfer in action

, 1999
Ab initio molecular orbital theory is used to investigate several possible mechanisms involving free radical intermediates for the coenzyme- B12-dependent rearrangement catalyzed by methylmalonyl-CoA mutase.
Golding BT, Radom L, Smith DM
core   +4 more sources

Catabolism of Branched Chain Amino Acids Contributes Significantly to Synthesis of Odd-Chain and Even-Chain Fatty Acids in 3T3-L1 Adipocytes.

PLoS ONE, 2015
The branched chain amino acids (BCAA) valine, leucine and isoleucine have been implicated in a number of diseases including obesity, insulin resistance, and type 2 diabetes mellitus, although the mechanisms are still poorly understood.
Scott B Crown, Nicholas Marze, Maciek R Antoniewicz   +2 more
doaj   +1 more source

The purification and characterization of methylmalonyl CoA mutase from bovine brain

, 1974
Methylmalonyl CoA mutase has been purified over 2300-fold from bovine brain using fractional precipitation, ion exchange resins, and gel filtration procedures. The crude extract had an equal mixture of mutase in the halo- and apoenzyme form.
Martin, Damon
core  

Inherited Methylmalonyl CoA Mutase Apoenzyme Deficiency in Human Fibroblasts EVIDENCE FOR ALLELIC HETEROGENEITY, GENETIC COMPOUNDS, AND CODOMINANT EXPRESSION

, 2020
A B S T R A C T We have measured and characterized methylmalonyl coenzyme A (CoA) mutase activity in extracts of cultured human fibroblasts from 23 patients with inherited deficiency ofthe mutase apoenzyme and from eight obligate heterozygotes for this ...

core  

Successful Pregnancy Management of a Woman With Severe Methylmalonic Acidemia

JIMD Reports
Isolated methylmalonic acidemia (MMA) is a rare, genetically heterogeneous group of metabolic disorders resulting from a deficiency of the enzyme methylmalonyl‐CoA mutase (MMUT), defects in the metabolism of its cofactor, adenosylcobalamin, or deficiency
M. Woidy, K. Tsiakas, M. Mahmud, G. Eich, S. Loos, J. Lisfeld, S. Schultz, A. C. Tallarek, K. Hecher, T. B. Huber, A. C. Muntau, G. Gramer   +11 more
doaj   +1 more source

C. elegans MRP-5 Exports Vitamin B12 from Mother to Offspring to Support Embryonic Development

Cell Reports, 2018
Summary: Vitamin B12 functions as a cofactor for methionine synthase to produce the anabolic methyl donor S-adenosylmethionine (SAM) and for methylmalonyl-CoA mutase to catabolize the short-chain fatty acid propionate.
Huimin Na, Olga Ponomarova, Gabrielle E. Giese, Albertha J.M. Walhout   +3 more
doaj   +1 more source