Results 71 to 80 of about 80,661 (193)

Delivery of tailor-made cobalamin to methylmalonyl-CoA mutase [PDF]

Nature Chemical Biology, 2008
Methylmalonyl coenzyme A mutase (MCM) catalyzes the adenosylcobalamin-dependent isomerization of methylmalonyl-CoA to succinyl-CoA. Adenosyltransferase, an enzyme that carries out the final step in biosynthesis of adenosylcobalamin, is shown to be involved in delivery of the cofactor to MCM.
openaire   +1 more source

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

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

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

methylmalonyl CoA mutase reaction

, 1997
In the metabolism of propionyl CoA L-methylmalonyl CoA is converted to succinate by methylmalonyl CoA mutase.

core  

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

Specific activity of enzymes of the ethylmalonyl-CoA pathway and their regulation.

, 2013
Enzymes: PhaA, β-ketothiolase; PhaB, acetoacetyl-CoA reductase; CroR, crotonase; Ccr, crotonyl-CoA carboxylase/reductase; Epi, ethylmalonyl-CoA/methylmalonyl-CoA epimerase; Ecm, ethylmalonyl-CoA mutase; Msd, methylsuccinyl-CoA dehydrogenase; Mcd ...
Georg Fuchs (361294), Hana Šmejkalová (361292), Tobias J. Erb (361293)   +2 more
core   +1 more source

Methanol Metabolism in the Cytochrome and Menaquinone‐Containing Acetogen Moorella thermoacetica

Environmental Microbiology, Volume 28, Issue 7, July 2026.
The thermophilic acetogenic bacterium Moorella thermoacetica is a promising platform organism to convert C1 compounds to valuable products. Gaseous C1 substrates are technically difficult to use for fermentation in an industrial scale, but methanol, which can be produced chemically from carbon dioxide, is a suitable alternative.
Florian P. Rosenbaum, Anja Poehlein, Rolf Daniel, Volker Müller   +3 more
wiley   +1 more source

Solvent Polarity Effects and Limited Acid Catalysis in Rearrangements of Model Radicals for the Methylmalonyl-CoA Mutase- and Isobutyryl-CoA Mutase-Catalyzed Isomerization Reactions

, 2016
The kinetics of reactions of models for the intermediate radicals formed in the methylmalonyl-CoA mutase- and isobutyryl-CoA mutase-catalyzed rearrangements were studied by laser flash photolysis methods.
Pierre Daublain (1625986), Andriy Kuznetsov (2740414), John H. Horner (2348140), Martin Newcomb (2297455)   +3 more
core   +1 more source

Metabolic design considerations for recycling of respiratory CO2 in leaves

The Plant Journal, Volume 127, Issue 1, July 2026.
SUMMARY Net carbon gain in plants is significantly reduced by the loss of assimilated carbon due to respiration and other metabolism in heterotrophic tissues. Avoiding this loss is difficult due to the essential nature of the metabolic processes involved but it could be possible to engineer metabolism to reuse the generated CO2.
Corinna Hartinger, Edward N. Smith, Lee J. Sweetlove   +2 more
wiley   +1 more source