Evidence of interallelic complementation at clinically relevant loci is limited to biochemical and cell - based studies of a handful of metabolic disorders with defects in enzymes including propinyl - CoA carboxylase [2], argininosuccinate lyase [3], galactose -1-phosphate uridylyltransferase [4], and methylmalonyl CoA mutase [5]. (journals.plos.org)
Structures of the first representatives of Pfam family PF06684 (DUF1185) reveal a novel variant of the Bacillus chorismate mutase fold and suggest a role in amino - acid metabolism. (jcsg.org)
Researchers from the Chinese Academy of Sciences have discovered that the metabolic enzyme phosphoglycerate mutase 1 (PGAM1) helps cancer cells repair their DNA and found that inhibiting PGAM1 sensitizes tumors to the cancer drug Olaparib (Lynparza). (sciencedaily.com)