Ethylmalonyl-CoA Decarboxylase, a New Enzyme Involved in Metabolite Proofreading

A Novel GDP-d-glucose Phosphorylase Involved in Quality Control of the Nucleoside Diphosphate Sugar Pool inCaenorhabditis elegansand Mammals

(2011) Lital N. Adler et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Extremely Conserved ATP- or ADP-dependent Enzymatic System for Nicotinamide Nucleotide Repair

(2011) Alexandre Y. Marbaix et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study

(2010) Marjan E. Steenweg et al.   HUMAN MUTATION

Molecular Identification of Carnosine Synthase as ATP-grasp Domain-containing Protein 1 (ATPGD1)

(2010) Jakub Drozak et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

(2009) Valeria Tiranti et al.   NATURE MEDICINE

Mechanisms and structures of crotonase superfamily enzymes – How nature controls enolate and oxyanion reactivity

(2008) R. B. Hamed et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

(2008) Christina B. Pedersen et al.   HUMAN GENETICS

l-2-Hydroxyglutaric aciduria, a disorder of metabolite repair

(2008) E. Van Schaftingen et al.   JOURNAL OF INHERITED METABOLIC DISEASE