Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape

Phenylketonuria (PKU) is a genetic disorder caused by variations in the phenylalanine hydroxylase (PAH) gene. Among the 3369 reported PAH variants, 33.7% are missense alterations. Unfortunately, 30% of these missense variants are classified as variants of unknown significance (VUS), posing challenge...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Molecular genetics and metabolism 2024-07, Vol.142 (3), p.108514, Article 108514
Hauptverfasser:	Himmelreich, Nastassja, Ramón-Maiques, Santiago, Navarrete, Rosa, Castejon-Fernandez, Natalia, Garbade, Sven F., Martinez, Aurora, Desviat, Lourdes R., Pérez, Belén, Blau, Nenad
Format:	Artikel
Sprache:	eng
Schlagworte:	Computer Simulation Humans Hyperphenylalaninemia Mutation Mutation, Missense Phenotype Phenylalanine Hydroxylase - chemistry Phenylalanine Hydroxylase - genetics Phenylketonuria Phenylketonurias - genetics Phenylketonurias - pathology PKU Variant curation Variant effect prediction
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!