The novel R347g pathogenic mutation of aromatic amino acid decarboxylase provides additional molecular insights into enzyme catalysis and deficiency-Reference-Cited by-同舟云学术

The novel R347g pathogenic mutation of aromatic amino acid decarboxylase provides additional molecular insights into enzyme catalysis and deficiency

Published:2016-06 Issue:6 Volume:1864 Page:676-682
ISSN:1570-9639
Container-title:Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics

Author:

Montioli Riccardo,Paiardini Alessandro,Kurian Manju A.,Dindo Mirco,Rossignoli Giada,Heales Simon J.R.,Pope Simon,Voltattorni Carla Borri,Bertoldi Mariarita^ORCID

Funder

AADC research Trust

University of Verona

Publisher

Elsevier BV

Subject

Molecular Biology,Biochemistry,Biophysics,Analytical Chemistry

Reference25 articles.

1. Mammalian Dopa decarboxylase: structure, catalytic activity and inhibition;Bertoldi;Arch. Biochem. Biophys.,2014

2. Clinical and biochemical features of aromatic l-amino acid decarboxylase deficiency;Brun;Neurology,2010

3. Aromatic l-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up;Manegold;J. Inherit. Metab. Dis.,2009

4. Aromatic amino acid decarboxylase deficiency in twins;Hyland;J. Inherit. Metab. Dis.,1990

5. Clinical and therapeutic observations in aromatic l-amino acid decarboxylase deficiency;Swoboda;Neurology,1999

Cited by 17 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. An attenuated, adult case of AADC deficiency demonstrated by protein characterization;Molecular Genetics and Metabolism Reports;2024-06

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. Active site serine-193 modulates activity of human aromatic amino acid decarboxylase;Biochemical and Biophysical Research Communications;2023-10

4. 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

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