Balancing N-linked glycosylation to avoid disease
HH Freeze, V Westphal - Biochimie, 2001 - Elsevier
Complete loss of N-glycosylation is lethal in both yeast and mammals. Substantial
deficiencies in some rate-limiting biosynthetic steps cause human congenital disorders of
glycosylation (CDG). Patients have a range of clinical problems including variable degrees
of mental retardation, liver dysfunction, and intestinal disorders. Over 60 mutations in
phosphomannomutase (encoded by PMM2) diminish activity and cause CDG-Ia. The severe
mutation R141H in PMM2 is lethal when homozygous, but heterozygous in about 1/70 …
deficiencies in some rate-limiting biosynthetic steps cause human congenital disorders of
glycosylation (CDG). Patients have a range of clinical problems including variable degrees
of mental retardation, liver dysfunction, and intestinal disorders. Over 60 mutations in
phosphomannomutase (encoded by PMM2) diminish activity and cause CDG-Ia. The severe
mutation R141H in PMM2 is lethal when homozygous, but heterozygous in about 1/70 …