ArticleBrain pathology (Zurich, Switzerland)2015
Thiamine Deficiency-Mediated Brain Mitochondrial Pathology in Alaskan Huskies with Mutation in SLC19A3.1.
Article in Brain pathology (Zurich, Switzerland), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Rapidly progressive dementia and intractable diarrhea: a teaching case report and a systematic review of cognitive impairment in Whipple's disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Pooled it
- A novel hereditary encephalopathy in four related Labrador Retrievers associated with a missense variant in the ALDH5A1 gene.Journal of veterinary internal medicine · 2026Article
- Article
- Subclinical thiamine deficiency results in failed reproduction in Arctic foxes.Veterinary medicine and science · 2024Article
- Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome.Metabolic brain disease · 2023Article
- Thiamine deficiency in pregnancy and lactation: implications and present perspectives.Frontiers in nutrition · 2023Review
- Wdfy3 regulates glycophagy, mitophagy, and synaptic plasticity.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2021Article
- Thiamine-producing lactic acid bacteria and their potential use in the prevention of neurodegenerative diseases.Applied microbiology and biotechnology · 2021Article
- Article
- Thiamine Deficiency Causes Long-Lasting Neurobehavioral Deficits in Mice.Brain sciences · 2020Article
- Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a NovelJournal of pediatric genetics · 2019Article
- Neurological, Psychiatric, and Biochemical Aspects of Thiamine Deficiency in Children and Adults.Frontiers in psychiatry · 2019Review
- Identification of pathways and genes associated with cerebral palsy.Genes & genomics · 2018Article
- Thiamine Deficiency Induced Dietary Disparity Promotes Oxidative Stress and Neurodegeneration.Indian journal of clinical biochemistry : IJCB · 2018Article
- Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.Frontiers in genetics · 2018Article
- Thiamine Deficiency and Neurodegeneration: the Interplay Among Oxidative Stress, Endoplasmic Reticulum Stress, and Autophagy.Molecular neurobiology · 2017Review
- A novel encephalopathy in a thiamine-deficient dog resembling human Wernicke's disease with atypical MRI pattern.Open veterinary journal · 2017Article
- Polioencephalopathy in Eurasier dogs.Journal of veterinary internal medicineArticle
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
Alaskan Husky encephalopathy (AHE(1) ) is a fatal brain disease associated with a mutation in SLC19A3.1 (c.624insTTGC, c.625C>A). This gene encodes for a thiamine transporter 2 with a predominately (CNS) central nervous system distribution. Considering that brain is particularly vulnerable to thiamine deficiency because of its reliance on thiamine pyrophosphate (TPP)-dependent metabolic pathways involved in energy metabolism and neurotransmitter synthesis, we characterized the impact of this mutation on thiamine status, brain bioenergetics and the contribution of oxidative stress to this phenotype. In silico modeling of the mutated transporter indicated a significant loss of alpha-helices resulting in a more open protein structure suggesting an impaired thiamine transport ability. The cerebral cortex and thalamus of affected dogs were severely deficient in TPP-dependent enzymes accompanied by decreases in mitochondrial mass and oxidative phosphorylation (OXPHOS) capacity, and increases in oxidative stress. These results along with the behavioral and pathological findings indicate that the phenotype associated with AHE is consistent with a brain-specific thiamine deficiency, leading to brain mitochondrial dysfunction and increased oxidative stress. While some of the biochemical deficits, neurobehavior and affected brain areas in AHE were shared by Wernicke's and Korsakoff's syndromes, several differences were noted likely arising from a tissue-specific vs. that from a whole-body thiamine deficiency.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.