Article
Heterozygosis in aromatic amino acid decarboxylase deficiency: Evidence for a positive interallelic complementation between R347Q and R358H mutations.
IUBMB life - 1 Mar 2018
Montioli Riccardo, Janson Giacomo, Paiardini Alessandro, Bertoldi Mariarita, Borri Voltattorni Carla
Abstract excerpt
Aromatic amino acid or Dopa decarboxylase (AADC or DDC) is a homodimeric pyridoxal 5'-phosphate (PLP) enzyme responsible for the generation of the neurotransmitters dopamine and serotonin. AADC deficiency is a rare inborn disease caused by mutations of the AADC gene leading to a defect of AADC enzyme and resulting in impaired dopamine and serotonin synthesis. Until now, only the molecular effects of homozygous...
Topics
- Amino Acid Metabolism, Inborn Errors
- Aromatic-L-Amino-Acid Decarboxylases
- Catalysis
- Dopamine
- Heterozygote
- Humans
- Mutation
- Protein Folding
- Protein Multimerization
- Recombinant Proteins
- Serotonin