Development and characterization of an inducible mouse model for glycogen storage disease type Ib.

Federica RaggiAnna Livia PissavinoRoberta ResazDaniela SegalerbaAndrea PuglisiCristina VanniFrancesca AntoniniGenny Del ZottoAlessandra GamberucciPaola MarcolongoMaria Carla BoscoFederica GrilloLuca MastracciAlessandra Eva

Published in: Journal of inherited metabolic disease (2018)

TM-induced inactivation of G6PT in these mice leads to a phenotype which mimics that of human GSD1b patients. The conditional mice we have generated represent an excellent tool to study the tissue-specific role of the G6PT gene and the mechanism of long-term complications in GSD1b.

Keyphrases

mouse model
endothelial cells
ejection fraction
high fat diet induced
newly diagnosed
high glucose
prognostic factors
copy number
risk factors
gene expression
genome wide
dna methylation
patient reported outcomes
wild type
skeletal muscle
genome wide identification