A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies-Reference-Cited by-同舟云学术

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A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies

Published:2019-06 Issue:2 Volume:127 Page:132-137
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Montioli Riccardo,Battini Roberta,Paiardini Alessandro,Tolve Manuela,Bertoldi Mariarita,Carducci Carla,Leuzzi Vincenzo,Borri Voltattorni Carla

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference25 articles.

1. Structural insight into Parkinson’s disease treatment from drug-inhibited DOPA decarboxylase;Burkhard;Nat. Struct. Biol.,2001

2. Open conformation of human DOPA decarboxylase reveals the mechanism of PLP addition to group II decarboxylases;Giardina;Proc. Natl. Acad. Sci. U. S. A.,2011

3. Reaction and substrate specificity of recombinant pig kidney Dopa decarboxylase under aerobic and anaerobic conditions;Bertoldi;Biochim. Biophys. Acta,2003

4. Mutation of cysteine 111 in Dopa decarboxylase leads to active site perturbation;Dominici;Protein Sci.,1997

5. An essential arginine residue at the binding site of pig kidney 3,4-dihydroxyphenylalanine decarboxylase;Tancini;Arch. Biochem. Biophys.,1985

Cited by 20 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein;Journal of Inherited Metabolic Disease;2024-08-21

2. Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants;Frontiers in Neurology;2023-12-05

3. Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes;Molecular Genetics and Metabolism;2023-08

4. Human aromatic amino acid decarboxylase is an asymmetric and flexible enzyme: Implication in aromatic amino acid decarboxylase deficiency;Protein Science;2023-07-29

5. A Label‐Free and Continuous Fluorescence Detection for L–DOPA Decarboxylase Activity Based on Supramolecular Tandem Assay;ChemistrySelect;2023-01-12

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