Results 61 to 70 of about 76,676 (194)

Fully automated assay for cobalamin-dependent methylmalonyl CoA mutase

Clinical Chemistry, 1995
Abstract We constructed a fully automated assay for the cobalamin-dependent enzyme methylmalonyl coenzyme A (CoA) mutase. The assay involves preincubation of the enzyme with adenosylcobalamin, incubation with substrate, termination of the reaction by adding trichloroacetic acid, filtration to remove precipitated protein, and finally ...
B, Riedel, P M, Ueland, A M, Svardal
openaire   +2 more sources

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

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   +5 more sources

Awakening sleeping beauty: production of propionic acid in Escherichia coli through the sbm operon requires the activity of a methylmalonyl-CoA epimerase

Microbial Cell Factories, 2017
Background Propionic acid is used primarily as a food preservative with smaller applications as a chemical building block for the production of many products including fabrics, cosmetics, drugs, and plastics.
Ricardo Axayacatl Gonzalez-Garcia, Tim McCubbin, Annalena Wille, Manuel Plan, Lars Keld Nielsen, Esteban Marcellin   +5 more
doaj   +1 more source

Immune Dysregulation in Branched Chain Organic Acidemias

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Organic acidemias (OAs) are a group of inherited disorders, most commonly caused by defects in mitochondrial enzymes involved in amino acid and fatty acid metabolism. While they characteristically present with metabolic and neurological crises, growing evidence reveals a significant burden of chronic immune dysregulation in some disorders and ...
Abdul L. Shakerdi, Jack Drda, Justin A. Dutta, Jerry Vockley   +3 more
wiley   +1 more source

Energetic and stereochemical effects of the protein environment on substrate: A theoretical study of methylmalonyl-CoA mutase

, 2003
QM/MM methods were used to study the isomerization step from (2R)-methylmalonyl-CoA to succinyl-CoA. A pathway via a “fragmentation−recombination” mechanism is ruled out on energetic grounds.
Grant, Guy
core   +1 more source

The subunit structure of methylmalonyl-CoA mutase from Propionibacterium shermanii [PDF]

Biochemical Journal, 1986
5′-Deoxyadenosylcobalamin-dependent methylmalonyl-CoA mutase was purified to homogeneity from Propionibacterium shermanii by a simplified procedure. The native enzyme has an apparent Mr of 165,000, similar to the enzyme from other sources but larger than previously reported.
F, Francalanci, N K, Davis, J Q, Fuller, D, Murfitt, P F, Leadlay   +4 more
openaire   +2 more sources

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Impaired Fat Metabolism During Exercise in Patients With Methylmalonic and Propionic Acidemia

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inherited metabolic diseases causing deficiency in the catabolism of amino acids, cholesterol, and odd‐chain fatty acids. Both patient groups report exercise intolerance and fatigue.
S. Myrup, A. Høj, M. M. Naume, N. Løkken, G. Van Hall, A. Lund, M. Duno, J. Vissing, M. C. Ørngreen   +8 more
wiley   +1 more source

How coenzyme B12 radicals are generated: the crystal structure of methylmalonyl-coenzyme A mutase at 2 å resolution [PDF]

, 1996
Background: The enzyme methylmalonyl-coenzyme A (CoA) mutase, an αβ heterodimer of 150 kDa, is a member of a class of enzymes that uses coenzyme B12 (adenosylcobalamin) as a cofactor.
Rasmussen, Bjarne, Evans, Philip R, Keep, Nicholas H, secke, Peter Bö, Mancia, Filippo, Keep, Nicholas, McSweeney, Sean, secke, Peter, Nakagawa, Atsushi, Diat, Olivier, Leadlay, Peter F, Leadlay, Peter, Evans, Philip   +12 more
core   +1 more source