Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins-Reference-Cited by-同舟云学术

Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins

Published:2021-09 Issue:1-2 Volume:134 Page:147-155
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Longo Carmen,Montioli Riccardo,Bisello Giovanni,Palazzi Luana,Mastrangelo Mario,Brennenstuhl Heiko,de Laureto Patrizia Polverino,Opladen Thomas,Leuzzi Vincenzo,Bertoldi Mariarita

Funder

AADC Research Trust

PTC Therapeutics Inc

Università degli Studi di Verona

Publisher

Elsevier BV

Subject

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

Reference26 articles.

1. Aromatic amino acid decarboxylase deficiency: molecular and metabolic basis and therapeutic outlook;Himmelreich;Mol. Genet. Metab.,2019

2. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC);Wassenberg;Orphanet J Rare Dis,2017

3. A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications;Montioli;Hum. Mol. Genet.,2014

4. The novel R347g pathogenic mutation of aromatic amino acid decarboxylase provides additional molecular insights into enzyme catalysis and deficiency;Montioli;Biochim. Biophys. Acta,2016

5. New variants of AADC deficiency expand the knowledge of enzymatic phenotypes;Montioli;Arch. Biochem. Biophys.,2020

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3. Cloning, characterization and specificity of a new aromatic-L-amino-acid decarboxylases from Bufo bufo gargarizans;International Journal of Biological Macromolecules;2024-03

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

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