Varaico: Literature-Extracted Genetic Variants

Gene:DDC
Variant:p.Y79C
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DDC

NM_001082971.2:p.Y79C

Associated Papers

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

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

Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry.

Montioli R et al.

International Journal of Molecular Sciences, 2021

Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency.

Kojima K et al.

Brain : a Journal of Neurology, 2019

Natural History of Aromatic L-Amino Acid Decarboxylase Deficiency in Taiwan.

Hwu WL et al.

Jimd Reports, 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

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

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."