ArticleHuman molecular genetics2020
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.
Article in Human molecular genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 2 of them syntheses that pooled it.
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Who cites it
35 citing papers in PubMed, 2 syntheses or guidelines pooled it, 60 citations in OpenAlex.
- A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.BMC ophthalmology · 2024Pooled it
- Effect of taurine administration on symptoms, severity, or clinical outcome of dilated cardiomyopathy and heart failure in humans: a systematic review.Wellcome open research · 2022Pooled it
- The SLC-ome of membrane transport: from molecular discovery to physiology and clinical applications.Physiological reviews · 2026Review
- Genome-wide association study of idiopathic pulmonary fibrosis susceptibility using clinically curated European ancestry datasets.The European respiratory journal · 2026Article
- Structural mechanism of substrate binding and inhibition of human taurine transporter.Nature communications · 2026Article
- Modulation of Aerobic Glycolysis Genes During the Progression of Retinitis Pigmentosa.Investigative ophthalmology & visual science · 2026Article
- Myopia and Metabolomics: A Comparative Study of Aqueous Humor and Serum Metabolites in Myopic Adults Undergoing Cataract Surgery.International journal of molecular sciences · 2025Article
- Do Sex and Gender Interact with the Biological Actions of Taurine? A Critical Rereading of the Literature.International journal of molecular sciences · 2025Review
- Molecular basis for substrate recognition and transport of mammalian taurine transporters.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Dimerization and substrate recognition of human taurine transporter.Nature communications · 2025Article
- Article
- Structural characterization reveals substrate recognition by the taurine transporter TauT.Cell discovery · 2025Article
- Therapeutic potential of taurine in a pigmented rat model of age-related macular degeneration.Frontiers in ophthalmology · 2025Article
- The potential role of amino acids in myopia: inspiration from metabolomics.Metabolomics : Official journal of the Metabolomic Society · 2024Review
- Exploring an novel diagnostic gene of trastuzumab-induced cardiotoxicity based on bioinformatics and machine learning.Scientific reports · 2024Article
- The Genetic Factors Influencing Cardiomyopathies and Heart Failure across the Allele Frequency Spectrum.Journal of cardiovascular translational research · 2024Review
- Genetics of Cardiac Aging Implicate Organ-Specific Variation.medRxiv : the preprint server for health sciences · 2024Article
- Metabolic Deficits in the Retina of a Familial Dysautonomia Mouse Model.Metabolites · 2024Article
- Structural Studies of the Taurine Transporter: A Potential Biological Target from the GABA Transporter Subfamily in Cancer Therapy.International journal of molecular sciences · 2024Article
- Article
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23 authors at 10 institutions in 4 countries.
Funding
Abstract
In a consanguineous Pakistani family with two affected individuals, a homozygous variant Gly399Val in the eighth transmembrane domain of the taurine transporter SLC6A6 was identified resulting in a hypomorph transporting capacity of ~15% compared with normal. Three-dimensional modeling of this variant has indicated that it likely causes displacement of the Tyr138 (TM3) side chain, important for transport of taurine. The affected individuals presented with rapidly progressive childhood retinal degeneration, cardiomyopathy and almost undetectable plasma taurine levels. Oral taurine supplementation of 100 mg/kg/day resulted in maintenance of normal blood taurine levels. Following approval by the ethics committee, a long-term supplementation treatment was introduced. Remarkably, after 24-months, the cardiomyopathy was corrected in both affected siblings, and in the 6-years-old, the retinal degeneration was arrested, and the vision was clinically improved. Similar therapeutic approaches could be employed in Mendelian phenotypes caused by the dysfunction of the hundreds of other molecular transporters.
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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.