S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine

Dopa or aromatic amino acid decarboxylase (DDC, AADC) is a pyridoxal 5'-phosphate-dependent enzyme that catalyses the production of the neurotransmitters dopamine and serotonin. Among the so far identified mutations associated with AADC deficiency, an inherited rare neurometabolic disease, the...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Human molecular genetics 2013-04, Vol.22 (8), p.1615-1624
Hauptverfasser:	Montioli, Riccardo, Oppici, Elisa, Cellini, Barbara, Roncador, Alessandro, Dindo, Mirco, Voltattorni, Carla Borri
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Metabolism, Inborn Errors - enzymology Amino Acid Metabolism, Inborn Errors - genetics Amino Acid Metabolism, Inborn Errors - pathology Animals Aromatic-L-Amino-Acid Decarboxylases - deficiency Aromatic-L-Amino-Acid Decarboxylases - genetics Catalysis CHO Cells Cricetinae Dopa Decarboxylase - chemistry Dopa Decarboxylase - genetics Dopa Decarboxylase - metabolism Dopamine - biosynthesis Dopamine - metabolism Escherichia coli Gene Expression Regulation - drug effects Humans Mutation Polymorphism, Genetic Protein Conformation Proteolysis Pyridoxine - administration & dosage RNA, Messenger - biosynthesis RNA, Messenger - genetics Serotonin - biosynthesis Serotonin - metabolism
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!