ArticleJournal of human genetics2019
Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4.
Article in Journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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Who cites it
11 citing papers in PubMed, 25 citations in OpenAlex.
- Pathogenic morphological signatures of perturbations in mitochondrial-related genes revealed by pooled imaging assay.Npj imaging · 2025Article
- Predicting Mutational Effects on CaJournal of the American Chemical Society · 2024Article
- miR-122-5p is involved in posttranscriptional regulation of the mitochondrial thiamin pyrophosphate transporter (American journal of physiology. Gastrointestinal and liver physiology · 2023Article
- Glutaminolysis and the Control of Neural Progenitors in Neocortical Development and Evolution.The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry · 2023Review
- Thiamine deficiency in pregnancy and lactation: implications and present perspectives.Frontiers in nutrition · 2023Review
- Mitochondrial transport and metabolism of the vitamin B-derived cofactors thiamine pyrophosphate, coenzyme A, FAD and NADIUBMB life · 2022Review
- Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4.Orphanet journal of rare diseases · 2021Article
- Review
- The Relevance of Thiamine Evaluation in a Practical Setting.Nutrients · 2020Article
- Diseases Caused by Mutations in Mitochondrial Carrier GenesBiomolecules · 2020Review
- Mitochondrial diseases: expanding the diagnosis in the era of genetic testing.Journal of translational genetics and genomics · 2020Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
Thiamine metabolism dysfunction syndrome-4 (THMD4) includes episodic encephalopathy, often associated with a febrile illness, causing transient neurologic dysfunction and a slowly progressive axonal polyneuropathy. Until now only two mutations (G125S and S194P) have been reported in the SLC25A19 gene as causative for this disease and a third mutation (G177A) as related to the Amish lethal microcephaly. In this work, we describe the clinical and molecular features of a patient carrying a novel mutation (c.576G>C; Q192H) on SLC25A19 gene. Functional studies on this mutation were performed explaining the pathogenetic role of c.576G>C in affecting the translational efficiency and/or stability of hMTPPT protein instead of the mRNA expression. These findings support the pathogenetic role of Q192H (c.576G>C) mutation on SLC25A19 gene. Moreover, despite in other patients the thiamine supplementation leaded to a substantial improvement of peripheral neuropathy, our patient did not show a clinical improvement.
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Registered trials
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