Associated Papers
Adult-onset focal hand dystonia in aromatic L-amino acid decarboxylase deficiency.
Zhang S et al.
Parkinsonism & Related Disorders, 2024
Active site serine-193 modulates activity of human aromatic amino acid decarboxylase.
Bisello G et al.
Biochemical and Biophysical Research Communications, 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
37466248 (PubMed )
Supplement: PRO-32-e4732-s002.docx
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 l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies.
Rossignoli G et al.
Brain : a Journal of Neurology, 2021
Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry.
Montioli R et al.
International Journal of Molecular Sciences, 2021
Heterozygosis in aromatic amino acid decarboxylase deficiency: Evidence for a positive interallelic complementation between R347Q and R358H mutations.
Montioli R et al.
Iubmb Life, 2018
The novel R347g pathogenic mutation of aromatic amino acid decarboxylase provides additional molecular insights into enzyme catalysis and deficiency.
Montioli R et al.
Biochimica Et Biophysica Acta, 2016
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