Associated Papers
4-phenylbutyric acid attenuates diabetes mellitus secondary to thiamine-responsive megaloblastic anaemia syndrome by modulating endoplasmic reticulum stress.
Qin Y et al.
Endokrynologia Polska, 2025
Structural basis of thiamine transport and drug recognition by SLC19A3.
Gabriel F et al.
Nature Communications, 2024
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
Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia.
Mohsen-Pour N et al.
Laboratory Medicine, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.
Villiger L et al.
Molecular Therapy. Nucleic Acids, 2021
Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome.
Kang P et al.
Frontiers in Pediatrics, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
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
Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.
Habeb AM et al.
Diabetologia, 2018
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
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anemia: a case report.
Srikrupa NN et al.
Ophthalmic Genetics, 2014
Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia.
Setoodeh A et al.
Gene, 2013
Vitamin B1 (thiamine) uptake by human retinal pigment epithelial (ARPE-19) cells: mechanism and regulation.
Subramanian VS et al.
The Journal of Physiology, 2007
Targeting and intracellular trafficking of clinically relevant hTHTR1 mutations in human cell lines.
Subramanian VS et al.
Clinical Science (london, England : 1979), 2007
Thiamine transporter mutation: an example of monogenic diabetes mellitus.
Alzahrani AS et al.
European Journal of Endocrinology, 2006
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
Disruption of transport activity in a D93H mutant thiamine transporter 1, from a Rogers Syndrome family.
Baron D et al.
European Journal of Biochemistry, 2003
Lack of plasma membrane targeting of a G172D mutant thiamine transporter derived from Rogers syndrome family.
Baron D et al.
Molecular Medicine (cambridge, Mass.), 2002
Functional role of specific amino acid residues in human thiamine transporter SLC19A2: mutational analysis.
Balamurugan K et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2002
The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.
Raz T et al.
Human Mutation, 2000
Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.
Labay V et al.
Nature Genetics, 1999