B vitamins and one-carbon metabolism: implications in human health and disease
Vitamins B9 (folate) and B12 are essential water-soluble vitamins that play a crucial role in
the maintenance of one-carbon metabolism: a set of interconnected biochemical pathways …
the maintenance of one-carbon metabolism: a set of interconnected biochemical pathways …
Causes and consequences of impaired methionine synthase activity in acquired and inherited disorders of vitamin B12 metabolism
JL Guéant, RM Guéant-Rodriguez… - Critical reviews in …, 2022 - Taylor & Francis
Abstract Methyl-Cobalamin (Cbl) derives from dietary vitamin B12 and acts as a cofactor of
methionine synthase (MS) in mammals. MS encoded by MTR catalyzes the remethylation of …
methionine synthase (MS) in mammals. MS encoded by MTR catalyzes the remethylation of …
[HTML][HTML] RBM10: structure, functions, and associated diseases
A Inoue - Gene, 2021 - Elsevier
RBM10 is a nuclear RNA-binding protein (RBP) that regulates the alternative splicing of
primary transcripts. Recently, research on RBM10 has become increasingly active owing to …
primary transcripts. Recently, research on RBM10 has become increasingly active owing to …
Sirt1-PPARS cross-talk in complex metabolic diseases and inherited disorders of the one carbon metabolism
Sirtuin1 (Sirt1) has a NAD (+) binding domain and modulates the acetylation status of
peroxisome proliferator-activated receptor-γ coactivator-1α (PGC1α) and Fork Head Box O1 …
peroxisome proliferator-activated receptor-γ coactivator-1α (PGC1α) and Fork Head Box O1 …
Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis
A Wiedemann, A Oussalah, N Lamireau, M Theron… - Cell Reports …, 2022 - cell.com
Inherited disorders of B 12 metabolism produce a broad spectrum of manifestations, with
limited knowledge of the influence of age and the function of related genes. We report a …
limited knowledge of the influence of age and the function of related genes. We report a …
Multifaced role of protein deacetylase sirtuins in neurodegenerative disease
Sirtuins, a class III histone/protein deacetylase, is a central regulator of metabolic function
and cellular stress response. This plays a pivotal role in the pathogenesis and progression …
and cellular stress response. This plays a pivotal role in the pathogenesis and progression …
Isoform changes of action potential regulators in the ventricles of arrhythmogenic phospholamban-R14del humanized mouse hearts
ME Rogalska, E Vafiadaki, Z Erpapazoglou… - Metabolism, 2023 - Elsevier
Arrhythmogenic cardiomyopathy (ACM) is characterized by life-threatening ventricular
arrhythmias and sudden cardiac death and affects hundreds of thousands of patients …
arrhythmias and sudden cardiac death and affects hundreds of thousands of patients …
[HTML][HTML] Lessons learned from inherited metabolic disorders of sulfur-containing amino acids metabolism
V Kožich, S Stabler - The Journal of Nutrition, 2020 - Elsevier
The metabolism of sulfur-containing amino acids (SAAs) requires an orchestrated interplay
among several dozen enzymes and transporters, and an adequate dietary intake of …
among several dozen enzymes and transporters, and an adequate dietary intake of …
The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology
JL Sloan, NP Achilly, ML Arnold… - Human Molecular …, 2020 - academic.oup.com
Cobalamin C (cblC) deficiency, the most common inborn error of intracellular cobalamin
metabolism, is caused by mutations in MMACHC, a gene responsible for the processing and …
metabolism, is caused by mutations in MMACHC, a gene responsible for the processing and …
Hippocampal synaptic plasticity injury mediated by SIRT1 downregulation is involved in chronic pain‐related cognitive dysfunction
Aims Cognitive dysfunction associated with chronic pain may be caused by impaired
synaptic plasticity. Considering the impact of silent information regulator 1 (SIRT1) on …
synaptic plasticity. Considering the impact of silent information regulator 1 (SIRT1) on …