Naturally occurring carboxypeptidase A6 mutations: effect on enzyme function and association with epilepsy

Carboxypeptidase A6 (CPA6) is a member of the A/B subfamily of M14 metallocarboxypeptidases that is expressed in brain and many other tissues during development. Recently, two mutations in human CPA6 were associated with febrile seizures and/or temporal lobe epilepsy. In this study we screened for a...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	The Journal of biological chemistry 2012-12, Vol.287 (51), p.42900-42909
Hauptverfasser:	Sapio, Matthew R, Salzmann, Annick, Vessaz, Monique, Crespel, Arielle, Lyons, Peter J, Malafosse, Alain, Fricker, Lloyd D
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Alleles Carboxypeptidases A - chemistry Carboxypeptidases A - genetics Carboxypeptidases A - metabolism Case-Control Studies Child Demography Enzyme Precursors - metabolism Enzyme Stability - drug effects Enzymology Epilepsy - enzymology Epilepsy - genetics Family Female Genetic Predisposition to Disease Genetic Testing HEK293 Cells Hot Temperature Humans Hydrogen Peroxide - pharmacology Male Models, Molecular Mutant Proteins - chemistry Mutant Proteins - genetics Mutant Proteins - metabolism Mutation - genetics Polymorphism, Single Nucleotide - genetics Trypsin - metabolism
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!