Results 91 to 100 of about 76,676 (194)

Mitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria

Communications Biology
Methylmalonic aciduria (MMA) is an inborn error of metabolism resulting in loss of function of the enzyme methylmalonyl-CoA mutase (MMUT). Despite acute and persistent neurological symptoms, the pathogenesis of MMA in the central nervous system is poorly
Matthew C. S. Denley, Monique S. Straub, Giulio Marcionelli, Miriam A. Güra, David Penton, Igor Delvendahl, Martin Poms, Beata Vekeriotaite, Sarah Cherkaoui, Federica Conte, Ferdinand von Meyenn, D. Sean Froese, Matthias R. Baumgartner   +12 more
doaj   +1 more source

Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings

BMC Medical Genetics, 2018
Background Methylmalonic acidemia (MMA) is an autosomal recessive inherited disorder caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively); a defect in the ...
Yiming Lin, Chunmei Lin, Weihua Lin, Zhenzhu Zheng, Mingya Han, Qingliu Fu   +5 more
doaj   +1 more source

Inhibition of the human methylmalonyl-CoA mutase by various CoA-esters.

Journal of Biological Chemistry, 1994
Human methylmalonyl-CoA mutase is inhibited by ethylmalonyl-CoA, cyclopropylcarbonyl-CoA carboxylate, and methylenecyclopropylacetyl-CoA, which are substrate, intermediate, and product analogs, respectively. The mode of inhibition by each analog is reversible and mixed with respect to the substrate, methylmalonyl-CoA.
S, Taoka, R, Padmakumar, M T, Lai, H W, Liu, R, Banerjee   +4 more
openaire   +2 more sources

Direct Infusion Mass Spectrometry to Rapidly Map Metabolic Flux of Substrates Labeled with Stable Isotopes

Metabolites
Direct infusion–high-resolution mass spectrometry (DI-HRMS) allows for rapid profiling of complex mixtures of metabolites in blood, cerebrospinal fluid, tissue samples and cultured cells.
Nils W. F. Meijer, Susan Zwakenberg, Johan Gerrits, Denise Westland, Arif I. Ardisasmita, Sabine A. Fuchs, Nanda M. Verhoeven-Duif, Judith J. M. Jans, Fried J. T. Zwartkruis   +8 more
doaj   +1 more source

Clinical Course of Methylmalonic Aciduria in Siblings: Two Clinical Cases

Вопросы современной педиатрии
Background. Methylmalonic aciduria (MMA) is a rare disease from the group of hereditary metabolic diseases. The MMA clinical picture is polymorphic and meanwhile similar to other metabolic disorders.
Olga V. Bugun, Galina P. Bogonosova, Tatyana A. Astakhova, Tatyana A. Bairova, Natalya N. Martynovich, Darya M. Barycova, Tatyana Y. Belkova, Yuliya S. Livadarova, Nanalya I. Sysoeva   +8 more
doaj   +1 more source

methylmalonyl CoA racemase reaction

, 1997
In the metabolism of propionyl CoA, D-methylmalonyl CoA is produced by a carboxylase reaction. This product must be converted to L-methylmalonyl CoA in order to be metabolized further.

core  

Maternal Vitamin B12 in Pregnancy and Placental Development

Journal of Nutrition and Metabolism
Vitamin B12, or cobalamin, is an essential nutrient required for diverse physiological functions secondary to its role as a critical cofactor for two mammalian enzymes, methionine synthase and methylmalonyl-CoA mutase. While essential throughout all life
Amrita Arcot, Rachel E. Walker, Kelly Gallagher, Kevin C. Klatt, Alison D. Gernand   +4 more
doaj   +1 more source

Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency

Haematologica, 2005
Vitamin B12 deficiency causes decreased Methionine Synthase and L-Methylmalonyl-CoA Mutase activity and results in accumulation of Homocysteine, Methylmalonic acid and Propionylcarnitine.
CD Campbell, J Ganesh, C Ficicioglu
doaj  

Caractérisation et utilisation de l'activité méthylmalonyl-CoA mutase chez Corynebacterium glutamicum [PDF]

, 2009
Corynebacterium glutamicum has a very high capacity for the production of metabolites derived from central metabolism in which the citric acid cycle occupies a key position for the delivery of precursors for biosynthetic purposes.
Botella, Laure
core  

Cobamide metabolism, regulation, and adaptation in Mycobacterium tuberculosis

Journal of Bacteriology
Cobamides play a paradoxical but critical role in the biology of Mycobacterium tuberculosis (Mtb), the causative agent of tuberculosis. Although Mtb retains nearly all cobalamin (Cbl) biosynthetic genes and encodes multiple cobamide-requiring enzymes ...
Terry Kipkorir, Rendani D. Mbau, Digby F. Warner, Gopinath Krishnamoorthy, Atica Moosa   +4 more
doaj   +1 more source