Mutations in the SLC19A3 gene are associated with thiamine metabolism dysfunction syndrome 2 (THMD2)
MicroRNAs are known to affect pathways linked to inflammation, immunity, neuroendocrine stress response, fertility, metabolism, environmental response and are actively associated with the clinical manifestations of a plethora of diseases and disorders [37, 49,50,51]
359,360 In the diabetic state, abnormalities in cellular energy metabolism affect macrovascular and microvascular lesions, 361,362,363 including abnormalities in substrate delivery to vascular EC or target organ cells (e.g., cardiac myocytes, thylakoid cells in glomeruli, and neurons and Schwann cells in peripheral nerves), conversion of the ratio of cell-specific fuel sources between glucose intermediates, fatty acids, and amino acids, changes in respiratory chain protein function, and uncoupling of respiratory chains
pH profiles indicative of rate-limiting nucleophilic displacement in thioltransferase catalysis
doi: 10.1186/s12882-022-02890-9 100 MafraD.BorgesN
[DOI] [PubMed] [Google Scholar] 150.Donoso A., Gonzlez-Durn J., Muoz A.A., Gonzlez P.A., Agurto-Muoz C
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