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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation

Fig. 2

Western blot showing the intracellular processing and secretion of the novel MAN2B1 missense variants in transfected COS-7 cells. The relative intensity of the different peptides is different for the wild-type enzyme and the missense variants. a. Overexpressed and transported MAN2B1 proteins are also secreted into the cell media in the full-length form. b. The WT was included as a positive control of MAN2B1 processing/secretion, pcDNA3.1 was included as a negative control of MAN2B1 expression (cells transfected with an empty vector) and MAN2B1 p.Arg750Trp was included as a negative control of MAN2B1 processing/secretion (accumulates in the ER)

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172