PMID- 10581255
OWN - NLM
STAT- MEDLINE
DCOM- 20000131
LR  - 20151119
IS  - 0261-4189 (Print)
IS  - 0261-4189 (Linking)
VI  - 18
IP  - 23
DP  - 1999 Dec 1
TI  - Carbohydrate deficient glycoprotein syndrome type IV: deficiency of
      dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase.
PG  - 6816-22
AB  - Type IV of the carbohydrate deficient glycoprotein syndromes (CDGS) is
      characterized by microcephaly, severe epilepsy, minimal psychomotor development
      and partial deficiency of sialic acids in serum glycoproteins. Here we show that 
      the molecular defect in the index patient is a missense mutation in the gene
      encoding the mannosyltransferase that transfers mannose from dolichyl-phosphate
      mannose on to the lipid-linked oligosaccharide (LLO) intermediate
      Man(5)GlcNAc(2)-PP-dolichol. The defect results in the accumulation of the LLO
      intermediate and, due to its leaky nature, a residual formation of full-length
      LLOs. N-glycosylation is abnormal because of the transfer of truncated
      oligosaccharides in addition to that of full-length oligosaccharides and because 
      of the incomplete utilization of N-glycosylation sites. The mannosyltransferase
      is the structural and functional orthologue of the Saccharomyces cerevisiae ALG3 
      gene.
FAU - Korner, C
AU  - Korner C
AD  - Georg-August-Universitat Gottingen, Abteilung Biochemie II, Heinrich-Duker-Weg
      12, D-37073 Gottingen. koerner@ukb2-00.uni-bc.gwdg.de
FAU - Knauer, R
AU  - Knauer R
FAU - Stephani, U
AU  - Stephani U
FAU - Marquardt, T
AU  - Marquardt T
FAU - Lehle, L
AU  - Lehle L
FAU - von Figura, K
AU  - von Figura K
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - EMBO J
JT  - The EMBO journal
JID - 8208664
RN  - 0 (Transferrin)
RN  - EC 2.4.1.- (Mannosyltransferases)
RN  - EC 2.4.1.258 (dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichol
      alpha-1,3-mannosyltransferase)
RN  - EC 3.4.- (Carboxypeptidases)
RN  - EC 3.4.16.5 (CTSA protein, human)
RN  - EC 3.4.16.5 (Cathepsin A)
SB  - IM
MH  - Amino Acid Sequence
MH  - Carboxypeptidases/metabolism
MH  - Cathepsin A
MH  - Child, Preschool
MH  - Congenital Disorders of Glycosylation/*genetics
MH  - DNA Mutational Analysis
MH  - Endoplasmic Reticulum/metabolism
MH  - Genetic Complementation Test
MH  - Glycosylation
MH  - Humans
MH  - Male
MH  - Mannosyltransferases/*deficiency/*genetics
MH  - Molecular Sequence Data
MH  - Mutation, Missense
MH  - Paresis/genetics
MH  - Sequence Homology, Amino Acid
MH  - Time Factors
MH  - Transferrin/metabolism
PMC - PMC1171744
EDAT- 1999/12/03 00:00
MHDA- 1999/12/03 00:01
CRDT- 1999/12/03 00:00
PHST- 1999/12/03 00:00 [pubmed]
PHST- 1999/12/03 00:01 [medline]
PHST- 1999/12/03 00:00 [entrez]
AID - 10.1093/emboj/18.23.6816 [doi]
PST - ppublish
SO  - EMBO J. 1999 Dec 1;18(23):6816-22. doi: 10.1093/emboj/18.23.6816.