Triosephosphate isomerase deficiency: Effect of F240L mutation on enzyme structure.

Triosephosphate isomerase deficiency: Effect of F240L mutation on enzyme structure. Arch Biochem Biophys. 2020 Jun 22;:108473 Authors: Romero JM Abstract Eleven missense mutations have been describe in human triosephosphate isomerase (TPI), affecting its catalytic function. Several of these mutations generate triosephosphate isomerase deficiency, the consequences of which can in some cases be lethal. The missense F240L mutation was found in a Hungarian patient showing symptoms of chronic hemolytic anemia and neuromuscular dysfunction. In vitro studies using a recombinant version of this mutant showed that it affects kinetic parameters, thermal stability and dimeric stability. Using X-ray crystal structures, the present paper describes how this mutation affected the flexibility of catalytic residues K13 and part of the (β/α) 8-barrel fold facing the dimeric interface in the TPI. PMID: 32585311 [PubMed - as supplied by publisher]
Source: Archives of Biochemistry and Biophysics - Category: Biochemistry Authors: Tags: Arch Biochem Biophys Source Type: research