Genetic defects in dolichol metabolism.

doi:10.1007/s10545-014-9760-1

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Article

Genetic defects in dolichol metabolism.

Journal of inherited metabolic disease - 1 Jan 2015

Buczkowska Anna, Swiezewska Ewa, Lefeber Dirk J

Abstract excerpt

Congenital disorders of glycosylation (CDG) comprise a group of inborn errors of metabolism with abnormal glycosylation of proteins and lipids. Patients with defective protein N-glycosylation are identified in routine metabolic screening via analysis of serum transferrin glycosylation. Defects in the assembly of the dolichol linked Glc(3)Man(9)GlcNAc(2) glycan and its transfer to proteins lead to the (partial)...

Topics

Animals
Congenital Disorders of Glycosylation
Cytoplasm
Dolichols
Endoplasmic Reticulum
Glycosylation
Golgi Apparatus
Humans
Mice
Oxidoreductases
Phenotype
Phosphotransferases (Alcohol Group Acceptor)

Source

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Identifiers

PMID: 25270028
DOI: 10.1007/s10545-014-9760-1
PMCID: PMC4281381

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