Associated Papers
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
Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein.
Bisello G et al.
Journal of Inherited Metabolic Disease, 2025
REVEAL-CP: Selective Screening of Pediatric Patients for Aromatic L-Amino Acid Decarboxylase Deficiency with a Guthrie Card and In Silico Structural Modeling of One Index Case.
Strehle EM et al.
Genetic Testing and Molecular Biomarkers, 2025
Mouse models for inherited monoamine neurotransmitter disorders.
Thöny B et al.
Journal of Inherited Metabolic Disease, 2024
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
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
Compound Heterozygosis in AADC Deficiency and Its Complex Phenotype in Terms of AADC Protein Population.
Bisello G et al.
International Journal of Molecular Sciences, 2022
Neurophysiological assessment of juvenile parkinsonism due to primary monoamine neurotransmitter disorders.
Passaretti M et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2022
Simultaneous determination of 5-hydroxytryptophan and 3-O-methyldopa in dried blood spot by UPLC-MS/MS: A useful tool for the diagnosis of L-amino acid decarboxylase deficiency.
Di Carlo E et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences, 2021
Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry.
Montioli R et al.
International Journal of Molecular Sciences, 2021
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.
Tristán-Noguero A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China.
Wen Y et al.
Journal of Human Genetics, 2020
A functional substitution in the L-aromatic amino acid decarboxylase enzyme worsens somatic symptoms via a serotonergic pathway.
Khoury S et al.
Annals of Neurology, 2019
Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2019
When dysphoria is not a primary mental state: A case report of the role of the aromatic L-aminoacid decarboxylase.
Portaro S et al.
Medicine, 2018
A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency.
Caine C et al.
Human Molecular Genetics, 2017
A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications.
Montioli R et al.
Human Molecular Genetics, 2014
S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine.
Montioli R et al.
Human Molecular Genetics, 2013
Biochemical and computational approaches to improve the clinical treatment of dopa decarboxylase-related diseases: an overview.
Cellini B et al.
The Open Biochemistry Journal, 2012
Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: the unsolved paradox.
Wassenberg T et al.
Molecular Genetics and Metabolism, 2010
Unusually mild phenotype of AADC deficiency in 2 siblings.
Tay SK et al.
Molecular Genetics and Metabolism, 2007
Aromatic L-amino acid decarboxylase enzyme activity in deficient patients and heterozygotes.
Verbeek MM et al.
Molecular Genetics and Metabolism, 2007
Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis.
Pons R et al.
Neurology, 2004