Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Metabolic brain disease - 1 Oct 2023

Felhi Rahma, Sfaihi Lamia, Charif Majida, Frikha Fakher, Aoiadni Nissaf, Kamoun Thouraya, Lenaers Guy, Fakhfakh Faiza

Abstract excerpt

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-B1 (vitB1, thiamine) into...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Consanguinity
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Leigh Disease

Share to Membrane Transport Proteins

Share to Metabolism, Inborn Errors

Share to Molecular Docking Simulation

Share to Oxidative Stress

Share to Thiamine

Source

Identifiers

PMID: 37642897
DOI: 10.1007/s11011-023-01280-w

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome.PMID 37642897Read ↗

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

Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment.Semantic proximity Read ↗

Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature ReviewSemantic proximity Read ↗

Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome.Semantic proximity Read ↗

Exome sequencing reveals a novel Moroccan founder mutation in<i>SLC19A3</i>as a new cause of early-childhood fatal Leigh syndromeSemantic proximity Read ↗

Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia.Semantic proximity Read ↗

G6036A substitution in mitochondrial COX I gene compromises cytochrome c oxidase activity in thiamine responsive Leigh syndrome patients.Semantic proximity Read ↗

Identification of a novel m.3955G > A variant in MT-ND1 associated with Leigh syndrome.Semantic proximity Read ↗

Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.Semantic proximity Read ↗

Mitochondrial DNA Mutations Linking Leigh Syndrome and Carotid Atherosclerosis: A Study of Shared Genetic PathwaysSemantic proximity Read ↗

Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency.Semantic proximity Read ↗

Management of Leigh syndrome: Current status and new insights.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.