Results 51 to 60 of about 8,933 (186)

Aldh1l2 knockout mouse metabolomics links the loss of the mitochondrial folate enzyme to deregulation of a lipid metabolism observed in rare human disorder

Human Genomics, 2020
Background Mitochondrial folate enzyme ALDH1L2 (aldehyde dehydrogenase 1 family member L2) converts 10-formyltetrahydrofolate to tetrahydrofolate and CO2 simultaneously producing NADPH.
Natalia I. Krupenko, Jaspreet Sharma, Peter Pediaditakis, Kristi L. Helke, Madeline S. Hall, Xiuxia Du, Susan Sumner, Sergey A. Krupenko   +7 more
doaj   +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

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

Structures of the Hydrolase Domain of Human 10 Formyltetrahydrofolate Dehydrogenase and its Complex with a Substrate Analogue

, 2006
10 Formyltetrahydrofolate dehydrogenase is a ubiquitously expressed enzyme in the human body. It catalyses the formation of tetrahydrofolate and carbon dioxide from 10 formyltetrahydrofolate, thereby playing an important role in the human metabolism of ...
Kursula, P., Ogg, D.J., Stenmark, P., Savitsky, P., Nilsson Ehle, P., Schüler, H., Nordlund, P., Flodin, S.   +7 more
core   +1 more source

Methylene tetrahydrofolate dehydrogenase/cyclohydrolase and the synthesis of 10‐CHO‐THF are essential inLeishmania major [PDF]

Molecular Microbiology, 2009
Summary10‐Formyl tetrahydrofolate (10‐CHO‐THF) is a key metabolite in C1 carbon metabolism, arising through the action of formate‐tetrahydrofolate ligase (FTL) and/or 5,10‐methenyltetrahydrofolate cyclohydrolase/5,10‐methylene tetrahydrofolate dehydrogenase (DHCH).Leishmania majorpossesses singleDHCH1andFTLgenes encoding exclusively cytosolic proteins,
Silvane M F, Murta, Tim J, Vickers, David A, Scott, Stephen M, Beverley   +3 more
openaire   +2 more sources

High expression of folate metabolic pathway gene MTHFD2 is related to the poor prognosis of patients and may apply as a potential new target for therapy of NSCLC

Pteridines
Data mining was applied to explore the expression, functional enrichment, and signal pathway of methylenetetrahydrofolate dehydrogenase 2 (MTHFD2) gene in non-small cell lung cancer (NSCLC) and its relationship with patient prognosis.
Zhang Xin, Yang Peiying, Meng Guangxian
doaj   +1 more source

The Role of Serine Hydroxymethyltransferase and Methylene‐Tetrahydrofolate Dehydrogenase in Genome Stability

The FASEB Journal, 2015
The conversion of tetrahydrofolate (THF) to 5,10‐methyleneTHF is catalyzed by the isozymes serine hydroxymethyltransferase 1 and 2 (SHMT1, SHMT2) and the trifunctional enzyme methylenetetrahydrofolate dehydrogenase 1 (MTHFD1). 5,10‐methyleneTHF is a cofactor for the enzyme thymidylate synthase (TYMS) in the conversion of deoxyuridylate (dUMP) to ...
Aislyn DiRisio, Elena Kamynina, Patrick Stover   +2 more
openaire   +1 more source

Genomic Survey of Carbon Monoxide Dehydrogenases Reveals Their Widespread Distribution in Marine Habitats

Environmental Microbiology Reports, Volume 18, Issue 3, June 2026.
Protein sequence surveys show that nickel‐ and molybdenum/copper‐containing carbon monoxide dehydrogenases (CODHs) are widespread in the ocean. Phylogenetic and genome context analyses reveal that marine CODHs are highly diverse in both evolutionary history and functional organisation.
Nipa Chongdar, Anand Goyal, Samir R. Damare   +2 more
wiley   +1 more source

Red blood cell membrane proteome as a reporter of disease severity, transfusion impact and genetic background in transfusion‐dependent β‐thalassaemia

British Journal of Haematology, Volume 208, Issue 6, Page 1980-1992, June 2026.
Summary Omics technologies have transformed research in haemoglobinopathies, yet the proteome of RBCs remains largely unexplored in transfusion‐dependent thalassaemia (TDT). In this proteomic analysis, Red blood cell (RBC) membranes from 48 adults with TDT were compared with healthy controls.
Konstantina Theocharaki, Sophia Delicou, Aikaterini Ntzoura‐Kani, Nikolaos Simantiris, Marianna Politou, Veroniki Komninaka, Martina Samiotaki, Jerome Zoidakis, Marianna H. Antonelou   +8 more
wiley   +1 more source

Microbial demethylation of dimethylsulfoniopropionate and methylthiopropionate [PDF]

, 2000
As discussed in chapter 1 , there is an increased interest in the production of certain natural sulfur-containing flavor compounds or flavor precursors.
Jansen, Michael,, Jansen, Michael
core