Results 21 to 30 of about 80,661 (193)

Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency. [PDF]

Nat Metab, 2023
Methylmalonic aciduria (MMA) is an inborn error of metabolism with multiple monogenic causes and a poorly understood pathogenesis, leading to the absence of effective causal treatments.
Forny P, Bonilla X, Lamparter D, Shao W, Plessl T, Frei C, Bingisser A, Goetze S, van Drogen A, Harshman K, Pedrioli PGA, Howald C, Poms M, Traversi F, Bürer C, Cherkaoui S, Morscher RJ, Simmons L, Forny M, Xenarios I, Aebersold R, Zamboni N, Rätsch G, Dermitzakis ET, Wollscheid B, Baumgartner MR, Froese DS.   +26 more
europepmc   +2 more sources

Role of vitamin B12 on methylmalonyl-CoA mutase activity. [PDF]

J Zhejiang Univ Sci B, 2012
Vitamin B(12) is an organometallic compound with important metabolic derivatives that act as cofactors of certain enzymes, which have been grouped into three subfamilies depending on their cofactors. Among them, methylmalonyl-CoA mutase (MCM) has been extensively studied.
Takahashi-Iñiguez T, García-Hernandez E, Arreguín-Espinosa R, Flores ME.   +3 more
europepmc   +4 more sources

Functional Characterization and Categorization of Missense Mutations That Cause Methylmalonyl-CoA Mutase (MUT) Deficiency [PDF]

Human Mutation, 2014
Wyatt W Yue, Matthias R Baumgartner, Froese Sean   +2 more
exaly   +2 more sources

Vitamin B12 deficiency in an infant secondary to nutritional deficiency and an inadequate maternal diet. [PDF]

JPGN Rep
ABSTRACT Vitamin B12 (cobalamin, Cbl) is an essential micronutrient for DNA synthesis and neurological development. Its deficiency in infants, although infrequent in developed countries, can cause megaloblastic anemia, psychomotor delay, and neurological damage that may become irreversible if not treated early.
Sala-Lluch S, Mesas-Vila N, Ferrando-Monleón S, Barrés-Fernández A, Villar-Vera C, Arcos-Machancoses JV.   +5 more
europepmc   +2 more sources

Vitamin B12 - do we need it? [PDF]

Farmacja Polska, 2022
Vitamin B12 is a name for a number of chemicals based on the structure of Corrin's rings. Its main source in the diet are animal foods, in particular: meat, fish, dairy products and eggs. Plant products are usually low in cobalamin.
Krzysztof Mariusz Halczuk, Bolesław Tomasz Karwowski   +1 more
doaj   +1 more source

Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease

iScience, 2022
Summary: Nutritional deficiency and genetic errors that impair the transport, absorption, and utilization of vitamin B12 (B12) lead to hematological and neurological manifestations.
Anna J. Esser, Srijan Mukherjee, Ilia A. Dereven’kov, Sergei V. Makarov, Donald W. Jacobsen, Ute Spiekerkoetter, Luciana Hannibal   +6 more
doaj   +1 more source

Mediator subunit MDT-15 promotes expression of propionic acid breakdown genes to prevent embryonic lethality in Caenorhabditis elegans

G3: Genes, Genomes, Genetics, 2023
The micronutrient vitamin B12 is an essential cofactor for two enzymes: methionine synthase, which plays a key role in the one-carbon cycle; and methylmalonyl-CoA mutase, an enzyme in a pathway that breaks down branched-chain amino acids and odd-chain ...
Grace Ying Shyen Goh, Arshia Beigi, Junran Yan, Kelsie R S Doering, Stefan Taubert   +4 more
doaj   +1 more source

Generation of induced pluripotent stem cells named SMBCi019-A from a methylmalonic acidemia patient carrying the MMACHC mutations

Stem Cell Research, 2022
Methylmalonic acidemia(MMA) is an autosomal recessive hereditary disease caused by methylmalonyl-CoA mutase defect or its coenzyme cobalamin metabolism defect.
Jing Luan, Hui Zou, Yazhou Cui, Jing Wang, Zhenzhong Han, Genglin Zhang, Jinxiang Han   +6 more
doaj   +1 more source

Nitric Oxide Inhibits Mammalian Methylmalonyl-CoA Mutase [PDF]

Journal of Biological Chemistry, 2005
Methylmalonyl-CoA mutase is a key enzyme in intermediary metabolism, and children deficient in enzyme activity have severe metabolic acidosis. We found that nitric oxide (NO) inhibits methylmalonyl-CoA mutase activity in rodent cell extracts. The inhibition of enzyme activity occurred within minutes and was not prevented by thiols, suggesting that ...
Amanpreet, Kambo, Vijay S, Sharma, Darren E, Casteel, Virgil L, Woods, Renate B, Pilz, Gerry R, Boss   +5 more
openaire   +2 more sources

The mechanistic target of rapamycin complex 1 pathway involved in hepatic gluconeogenesis through peroxisome-proliferator-activated receptor γ coactivator-1α

Animal Nutrition, 2022
Cattle can efficiently perform de novo generation of glucose through hepatic gluconeogenesis to meet post-weaning glucose demand. Substantial evidence points to cattle and non-ruminant animals being characterized by phylogenetic features in terms of ...
Guoyan Wang, Jun Zhang, Shengru Wu, Senlin Qin, Yining Zheng, Chao Xia, Huijun Geng, Junhu Yao, Lu Deng   +8 more
doaj   +1 more source