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Congenital disorders of glycosylation (CDG) are inborn errors of metabolism due to protein and lipid hypoglycosylation . This rapidly growing family of genetic diseases comprises 103 CDG types ...
hypoglycosylation was not detected and, in contrast to retinitis pigmentosa and other congenital disorders of glycosylation involving dolichol metabolism , the urinary dolichol D18/D19 ratio was normal. Mapping ...
moiety of glycoproteins and glycolipids (1). To date, 30 CDG hypoglycosylation defects have been identified, including 17 N-glycosylation defects (13 CDG-I or N-glycan assembly defects and 4 CDG-II or N ...
of polyprenol to dolichol in Arabidopsis thaliana. PPRD1 and -2 play dedicated roles in plant metabolism . PPRD2 is essential for plant viability; its deficiency results in aberrant development of the male ...
as on the glycosylation of CPY. Surprisingly, the CPY glycosylation defects detected in Western blots by the appearance of hypoglycosylated CPY (hgCPY) forms were evident not only in both MD2/1-9 and MD2/1-S405 strains ...
-glycosylation at elevated temperatures due to the ablation of the CPT that is involved in dolichol biosynthesis (Sato et al., 1999). Strikingly, medium-chain polyisoprenoids (Pren-11) that are synthesized ...
., 1984; Reiss et al., 1996) accumulate dolichol -linked Man9GlcNAc2 and are believed to be defective in the transferase that adds the first α-1,3-linked glucose, alg8 cells (Runge and Robbins, 1986 ...
SlCPT5 or the native RER2 protein only contained the mature fully glycosylated form of CPY (Fig. 2C). These results therefore suggest that medium-chain dolichols are sufficient to rescue the growth defects ...
-of-function missense mutations and their orthologous SEC53 mutations. These alleles range in severity from folding defective (hypomorph) to dimerization defective (severe hypomorph) to catalytic dead (null). We ...
and mannosylation was specifically due to defective PMM2 activity, we rescued the phenotype by overexpressing WT-PMM2 in patient cells. We used CDG-168 cells since they have the human mutations ( PMM2R141H/F119L ...
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