Results 1 to 10 of about 76,676 (194)

Architecture of the human G-protein-methylmalonyl-CoA mutase nanoassembly for B12 delivery and repair [PDF]

Nature Communications, 2023
G-proteins function as molecular switches to power cofactor translocation and confer fidelity in metal trafficking. The G-protein, MMAA, together with MMAB, an adenosyltransferase, orchestrate cofactor delivery and repair of B12-dependent human ...
Romila Mascarenhas, Markus Ruetz, Harsha Gouda, Natalie Heitman, Madeline Yaw, Ruma Banerjee   +5 more
doaj   +3 more sources

Human B₁₂-dependent enzymes: Methionine synthase and Methylmalonyl-CoA mutase. [PDF]

Methods Enzymol, 2022
Humans have only two known cobalamin or B12-dependent enzymes: cytoplasmic methionine synthase and mitochondrial methylmalonyl-CoA mutase. A complex intracellular B12 trafficking pathway, comprising a multitude of chaperones, process and deliver cobalamin to the two target enzymes.
Mascarenhas R, Gouda H, Ruetz M, Banerjee R.   +3 more
europepmc   +4 more sources

Biological Activity of Pseudovitamin B₁₂ on Cobalamin-Dependent Methylmalonyl-CoA Mutase and Methionine Synthase in Mammalian Cultured COS-7 Cells [PDF]

Molecules, 2020
Adenyl cobamide (commonly known as pseudovitamin B12) is synthesized by intestinal bacteria or ingested from edible cyanobacteria. The effect of pseudovitamin B12 on the activities of cobalamin-dependent enzymes in mammalian cells has not been studied ...
Tomohiro Bito, Mariko Bito, Tomomi Hirooka, Naho Okamoto, Naoki Harada, Ryoichi Yamaji, Yoshihisa Nakano, Hiroshi Inui, Fumio Watanabe   +8 more
doaj   +3 more sources

Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locus. [PDF]

PLoS ONE, 2012
The mutation R403stop was found in an individual with mut(0) methylmalonic aciduria (MMA) which resulted from a single base change of C→T in exon 6 of the methylmalonyl-CoA mutase gene (producing a TGA stop codon).
Nicole E Buck, Harriet Dashnow, James J Pitt, Leonie R Wood, Heidi L Peters   +4 more
doaj   +4 more sources

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

Journal of Zhejiang University: Science 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.
Maria Elena Flores, Toshiko Takahashi-Iñiguez, Enrique García-Hernández   +2 more
exaly   +5 more sources

A dodecylamine derivative of cyanocobalamin potently inhibits the activities of cobalamin-dependent methylmalonyl-CoA mutase and methionine synthase of Caenorhabditis elegans [PDF]

FEBS Open Bio, 2014
In this study, we showed that cyanocobalamin dodecylamine, a ribose 5′-carbamate derivative of cyanocobalamin, was absorbed and accumulated to significant levels by Caenorhabditis elegans and was not further metabolized.
Tomohiro Bito, Yukinori Yabuta, Tsuyoshi Ichiyanagi, Tsuyoshi Kawano, Fumio Watanabe   +4 more
doaj   +4 more sources

Itaconate Alters Succinate and Coenzyme A Metabolism via Inhibition of Mitochondrial Complex II and Methylmalonyl-CoA Mutase [PDF]

Metabolites, 2021
Itaconate is a small molecule metabolite that is endogenously produced by cis-aconitate decarboxylase-1 (ACOD1) in mammalian cells and influences numerous cellular processes.
Thekla Cordes, Christian M. Metallo
doaj   +2 more sources

Dataset of a comparative proteomics experiment in a methylmalonyl-CoA mutase knockout HEK 293 cell model [PDF]

Data in Brief, 2020
Methylmalonic acidemia is a rare inborn error of metabolism with severe clinical complications and poor outcome. The present data article is related to a proteomic investigation conducted on a HEK 293 cell line which has been genetically modified using ...
Michele Costanzo, Marianna Caterino, Armando Cevenini, Vincent Jung, Cerina Chhuon, Joanna Lipecka, Roberta Fedele, Ida Chiara Guerrera, Margherita Ruoppolo   +8 more
doaj   +2 more sources

Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency [PDF]

Nature Communications, 2020
Methylmalonic acidemia is an inherited metabolic disease caused by loss or mutation of the enzyme MMUT. Here the authors use cell and animal models to show that MMUT mutations lead to defective mitophagy and stress in kidney cells, contributing to the ...
Alessandro Luciani, Anke Schumann, Marine Berquez, Zhiyong Chen, Daniela Nieri, Mario Failli, Huguette Debaix, Beatrice Paola Festa, Natsuko Tokonami, Andrea Raimondi, Alessio Cremonesi, Diego Carrella, Patrick Forny, Stefan Kölker, Francesca Diomedi Camassei, Francisca Diaz, Carlos T. Moraes, Diego Di Bernardo, Matthias R. Baumgartner, Olivier Devuyst   +19 more
doaj   +2 more sources

Author Correction: Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency [PDF]

Nature Communications, 2020
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Alessandro Luciani, Anke Schumann, Marine Berquez, Zhiyong Chen, Daniela Nieri, Mario Failli, Huguette Debaix, Beatrice Paola Festa, Natsuko Tokonami, Andrea Raimondi, Alessio Cremonesi, Diego Carrella, Patrick Forny, Stefan Kölker, Francesca Diomedi Camassei, Francisca Diaz, Carlos T. Moraes, Diego Di Bernardo, Matthias R. Baumgartner, Olivier Devuyst   +19 more
doaj   +2 more sources