Article
Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease.
Human molecular genetics - 1 Sept 2013
Potter Gregory B, Santos Marta, Davisson Muriel T, Rowitch David H, Marks Dan L, Bongarzone Ernesto R, Petryniak Magdalena A
Abstract excerpt
Krabbe disease is a devastating pediatric leukodystrophy caused by mutations in the galactocerebrosidase (GALC) gene. A significant subset of the infantile form of the disease is due to missense mutations that result in aberrant protein production. The currently used mouse model, twitcher, has a nonsense mutation not found in Krabbe patients, although it is similar to the human 30 kb deletion in abrogating GALC...
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