The Metabolism & Organelle Biogenesis (MOB) group combines structural, biochemical, and chemical biology approaches to study the functions and structure-activity relationships of diverse metabolic protein families in the human genome, with emphasis on understanding the molecular basis of inherited metabolic disorders and potentials of small molecule therapeutics.
Research activities in the group include the heterologous expression, chromatography purification, multiprotein complex reconstitution, biophysical characterization and crystal structure determination of human metabolic enzymes of medical interest.
Current areas of focus include: multiprotein complex machines, glycogen synthesis, vitamin B12 metabolism and Leloir pathway of galactose metabolism.
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.
Keshavan N. et al, (2019), Genet Med
RAC1 missense mutations cause diverse phenotypes and define Rhopathies as a new group of developmental disorders
Reijnders MRF. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 238 - 238
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 (BCAT2) deficiency.
Knerr I. et al, (2019), J Inherit Metab Dis
Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency.
Heuberger K. et al, (2019), Biochim Biophys Acta Mol Basis Dis, 1865, 1265 - 1272
15-deoxy-Δ12,14-Prostaglandin J2 inhibits human soluble epoxide hydrolase by a dual orthosteric and allosteric mechanism.
Abis G. et al, (2019), Commun Biol, 2