Porath B et al.(2016) Mutations in GANAB, Encoding the Glucosidase IIalpha Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease Am J Hum Genet 98: 1193-1207
[PMID: 27259053]
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Analysis of GANAB-null cells showed an absolute requirement of GIIalpha for maturation and surface and ciliary localization of the ADPKD proteins (PC1 and PC2), and reduced mature PC1 was seen in GANAB(+/-) cells. PC1 surface localization in GANAB(-/-) cells was rescued by wild-type, but not mutant, GIIalpha.
CIDeRplus