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Article

New variants of AADC deficiency expand the knowledge of enzymatic phenotypes.

Archives of biochemistry and biophysics - 30 Mar 2020

Montioli Riccardo, Bisello Giovanni, Dindo Mirco, Rossignoli Giada, Voltattorni Carla Borri, Bertoldi Mariarita

Abstract excerpt

AADC deficiency is a rare genetic disease caused by mutations in the gene of aromatic amino acid decarboxylase, the pyridoxal 5'-phosphate dependent enzyme responsible for the synthesis of dopamine and serotonin. Here, following a biochemical approach together with an in silico bioinformatic analysis, we present a structural and functional characterization of 13 new variants of AADC. The amino acid substitutions...

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PMID: 31953134
DOI: 10.1016/j.abb.2020.108263

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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