Wird geladen...

Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation

Deficiency of thymidine kinase 2 (TK2) is a frequent cause of isolated myopathy or encephalomyopathy in children with mitochondrial DNA (mtDNA) depletion. To determine the bases of disease onset, organ specificity and severity of TK2 deficiency, we have carefully characterized Tk2 H126N knockin mice...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Dorado, Beatriz, Area, Estela, Akman, Hasan O., Hirano, Michio
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2011
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3000681/
https://ncbi.nlm.nih.gov/pubmed/20940150
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq453
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!