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The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2 [PDF]
AAPS Journal, 2021 Abstract A rare cause of megaloblastic anemia (MA) is thiamine-responsive megaloblastic anemia (TRMA), a genetic disorder caused by mutations in SLC19A2 (encoding THTR1), a thiamine transporter.
Kathleen Giacomini +2 more
exaly +7 more sources
pH-Dependent Pyridoxine Transport by SLC19A2 and SLC19A3: Implications for Absorption in Acidic Microclimates [PDF]
Journal of Biological Chemistry, 2020 SLC19A2 and SLC19A3, also known as thiamine transporters (THTR) 1 and 2, respectively, transport the positively charged thiamine (vitamin B1) into cells to enable its efficient utilization. SLC19A2 and SLC19A3 are also known to transport structurally unrelated cationic drugs, such as metformin, but whether this charge selectivity extends to other ...
Hiroaki Yuasa +2 more
exaly +7 more sources
Expression and Promoter Analysis of SLC19A2 in the Human Intestine
Biochimica Et Biophysica Acta - Biomembranes, 2002 The molecular mechanism and regulation of the intestinal uptake process of dietary thiamine is not well understood. Previous studies have established the involvement of a carrier-mediated system for thiamine uptake in the human intestine. Recently a human thiamine transporter, SLC19A2, was cloned from a number of human tissues.
Hamid M Said +2 more
exaly +3 more sources
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Characterization of a Murine High-Affinity Thiamine Transporter, Slc19a2
Molecular Genetics and Metabolism, 2001Thiamine-responsive megaloblastic anemia with deafness and diabetes (TRMA) is a rare autosomal recessive disorder of thiamine transport. Previous studies have demonstrated that the disease is caused by mutations in the SLC19A2 gene encoding a high-affinity thiamine transporter.
J C, Fleming +7 more
openaire +2 more sources
Pediatric Diabetes, 2012
Permanent neonatal diabetes mellitus (PNDM) is diagnosed within the first 6 months of life, and is usually monogenic in origin. Heterozygous mutations in ABCC8, KCNJ11, and INS genes account for around half of cases of PNDM; mutations in 10 further genes account for a further 10%, and the remaining 40% of cases are currently without a molecular genetic
Andrew Tym Hattersley +2 more
exaly +7 more sources
Permanent neonatal diabetes mellitus (PNDM) is diagnosed within the first 6 months of life, and is usually monogenic in origin. Heterozygous mutations in ABCC8, KCNJ11, and INS genes account for around half of cases of PNDM; mutations in 10 further genes account for a further 10%, and the remaining 40% of cases are currently without a molecular genetic
Andrew Tym Hattersley +2 more
exaly +7 more sources
European Journal of Pediatrics, 2012
Thiamine-responsive megaloblastic anemia (TRMA) is a rare disorder typically characterized by megaloblastic anemia, non-type I diabetes and sensorineural deafness. It is caused by various mutations in the SLC19A2 gene that impair the encoded thiamine transporter. So far, only 70 affected individuals mainly from consanguineous families of Middle and Far
Herbert, Pichler +5 more
openaire +2 more sources
Thiamine-responsive megaloblastic anemia (TRMA) is a rare disorder typically characterized by megaloblastic anemia, non-type I diabetes and sensorineural deafness. It is caused by various mutations in the SLC19A2 gene that impair the encoded thiamine transporter. So far, only 70 affected individuals mainly from consanguineous families of Middle and Far
Herbert, Pichler +5 more
openaire +2 more sources
Molecular Genetics and Metabolism, 2003
Thiamine-responsive megaloblastic anemia with diabetes and deafness (TRMA) is an autosomal recessive disease caused by mutations in the high-affinity thiamine transporter gene SLC19A2. To study the role of thiamine transport in the pathophysiology of TRMA syndrome and of each of the component disorders, we created a targeted disruption of the Slc19a2 ...
Judith C, Fleming +7 more
openaire +2 more sources
Thiamine-responsive megaloblastic anemia with diabetes and deafness (TRMA) is an autosomal recessive disease caused by mutations in the high-affinity thiamine transporter gene SLC19A2. To study the role of thiamine transport in the pathophysiology of TRMA syndrome and of each of the component disorders, we created a targeted disruption of the Slc19a2 ...
Judith C, Fleming +7 more
openaire +2 more sources