B vitamins and one-carbon metabolism: implications in human health and disease

P Lyon, V Strippoli, B Fang, L Cimmino - Nutrients, 2020 - mdpi.com
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 …

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 …

[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 …

Sirt1-PPARS cross-talk in complex metabolic diseases and inherited disorders of the one carbon metabolism

VJ Kosgei, D Coelho, RM Guéant-Rodriguez… - Cells, 2020 - mdpi.com
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 …

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 …

Multifaced role of protein deacetylase sirtuins in neurodegenerative disease

R Gupta, RK Ambasta, P Kumar - Neuroscience & Biobehavioral Reviews, 2022 - Elsevier
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 …

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 …

[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 …

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 …

Hippocampal synaptic plasticity injury mediated by SIRT1 downregulation is involved in chronic pain‐related cognitive dysfunction

Y Liu, Q Liu, H Wang, Y Qiu, J Lin, W Wu… - CNS Neuroscience …, 2024 - Wiley Online Library
Aims Cognitive dysfunction associated with chronic pain may be caused by impaired
synaptic plasticity. Considering the impact of silent information regulator 1 (SIRT1) on …