Article

Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome

2023-07-13

Abstract excerpt

<title>Abstract</title> <p>Leigh syndrome (LS) and Leigh-like spectrum are the most common infantile mitochondrial disorders characterized by heterogeneous neurologic and metabolic manifestations. Pathogenic variants in SLC carriers are frequently reported in LS given their important role in transporting various solutes across the blood–brain barrier. SLC19A3 (THTR2) is one of these carriers transporting vitamin-...

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Literature Corpus work: 37e6c3e1-e993-5bbf-8f17-1ad9fba3c679
DOI: 10.21203/rs.3.rs-3046362/v1

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