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Premature termination codon readthrough upregulates progranulin expression and improves lysosomal function in preclinical models of GRN deficiency

Abstract Background Frontotemporal lobar degeneration (FTLD) is a devastating and progressive disorder, and a common cause of early onset dementia. Progranulin (PGRN) haploinsufficiency due to autosomal dominant mutations in the progranulin gene (GRN) is an important cause of FTLD (FTLD-GRN), and ne...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Jonathan Frew, Alireza Baradaran-Heravi, Aruna D. Balgi, Xiujuan Wu, Tyler D. Yan, Steve Arns, Fahimeh S. Shidmoossavee, Jason Tan, James B. Jaquith, Karen R. Jansen-West, Francis C. Lynn, Fen-Biao Gao, Leonard Petrucelli, Howard H. Feldman, Ian R. Mackenzie, Michel Roberge, Haakon B. Nygaard
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMC 2020-03-01
Schriftenreihe:Molecular Neurodegeneration
Schlagworte:
Progranulin
GRN
Frontotemporal lobar degeneration
Nonsense mutation
Premature termination codon
Readthrough
Online-Zugang:http://link.springer.com/article/10.1186/s13024-020-00369-5
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