Malin Lindqvist Appell
- Nomenclature for alleles of the thiopurine methyltransferase geneMalin L Appell
Department of Medical and Health Sciences, Division of Drug Research, Faculty of Health Sciences, Linkoping University, Linkoping, Sweden
Pharmacogenet Genomics 23:242-8. 2013..The committee has decided to renumber two alleles: nucleotide position 106 (G>A) from TPMT*24 to TPMT*30 and position 611 (T>C, rs79901429) from TPMT*28 to TPMT*31. Nomenclature for all other known alleles remains unchanged...
- Characterization of a novel sequence variant, TPMT*28, in the human thiopurine methyltransferase geneMalin Lindqvist Appell
Department of Medical and Health Sciences, Faculty of Health Sciences, Linkoping University, Linkoping, Sweden
Pharmacogenet Genomics 20:700-7. 2010..A total of 29 sequence variants have been identified so far in the TPMT gene. However, most of these variants are rare and not fully characterized...
- A skewed thiopurine metabolism is a common clinical phenomenon that can be successfully managed with a combination of low-dose azathioprine and allopurinolMalin Lindqvist Appell
Division of Drug Research Clinical Pharmacology, Department of Medical and Health Sciences, Linkoping University, Linkoping, Sweden
J Crohns Colitis 7:510-3. 2013..A skewed thiopurine metabolism is a phenomenon associated with both poor treatment response and toxicity. Our aim was to evaluate the frequency of this phenomenon and the relationship to thiopurine methyltransferase (TPMT) function...
- Structural characteristics determine the cause of the low enzyme activity of two thiopurine S-methyltransferase allelic variants: a biophysical characterization of TPMT*2 and TPMT*5Patricia Wennerstrand
Department of Physics, Chemistry, and Biology, Linkoping University, SE 581 83 Linkoping, Sweden
Biochemistry 51:5912-20. 2012..In conclusion, this in vitro study, conducted to probe structural changes during unfolding of TPMT*2 and TPMT*5, demonstrates that the various causes of the low enzyme activity in vivo could be explained on a molecular level...
- Methotrexate binds to recombinant thiopurine S-methyltransferase and inhibits enzyme activity after high-dose infusions in childhood leukaemiaPatricia Wennerstrand
Department of Physics, Chemistry and Biology, Linkoping University, Sweden
Eur J Clin Pharmacol 69:1641-9. 2013..The aim of this study was to investigate the fluctuation in TPMT enzyme activity over time and the effect of high-dose MTX infusions on TPMT enzyme activity and 6-MP metabolites in paediatric ALL patients...