Associated Papers
The CRISPR-Cas9 knockout DDC SH-SY5Y in vitro model for AADC deficiency provides insight into the pathogenicity of R347Q and L353P variants: a cross-sectional structural and functional analysis.
Carmona-Carmona CA et al.
The Febs Journal, 2025
A CRISPR/Cas9 knockout model for AADC deficiency reveals structural loop3 instability as a key driver of catalytic failure.
Uçar SK et al.
The Febs Journal, 2025
A computational study on structural and functional consequences of nsSNPs in human dopa decarboxylase.
Kumar SB et al.
Journal of Biomolecular Structure & Dynamics, 2025
38193892 (PubMed )
Supplement: supplement_1.xlsx › S1
Active site serine-193 modulates activity of human aromatic amino acid decarboxylase.
Bisello G et al.
Biochemical and Biophysical Research Communications, 2023
Aromatic l-amino acid decarboxylase deficiency in Taiwan.
Hwu WL et al.
Jimd Reports, 2023
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2023
Human aromatic amino acid decarboxylase is an asymmetric and flexible enzyme: Implication in aromatic amino acid decarboxylase deficiency.
Bisello G et al.
Protein Science : a Publication of the Protein Society, 2023
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2023
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.
Bisello G et al.
Cellular and Molecular Life Sciences : Cmls, 2022
Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry.
Montioli R et al.
International Journal of Molecular Sciences, 2021
New variants of AADC deficiency expand the knowledge of enzymatic phenotypes.
Montioli R et al.
Archives of Biochemistry and Biophysics, 2020
Natural History of Aromatic L-Amino Acid Decarboxylase Deficiency in Taiwan.
Hwu WL et al.
Jimd Reports, 2018
Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial.
Chien YH et al.
The Lancet. Child & Adolescent Health, 2017
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