Associated Papers
Structural basis of thiamine transport and drug recognition by SLC19A3.
Gabriel F et al.
Nature Communications, 2024
39358356 (PubMed )
Supplement: 41467_2024_52872_MOESM1_ESM.pdf
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.
Marcé-Grau A et al.
Journal of Inherited Metabolic Disease, 2019
Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 (SLC19A2) mutation.
Sun C et al.
Journal of Diabetes, 2018
Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia.
Shaw-Smith C et al.
Pediatric Diabetes, 2012
Targeting and intracellular trafficking of clinically relevant hTHTR1 mutations in human cell lines.
Subramanian VS et al.
Clinical Science (london, England : 1979), 2007
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.
Zeng WQ et al.
American Journal of Human Genetics, 2005
Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome.
Lagarde WH et al.
American Journal of Medical Genetics. Part A, 2004
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