Congenital disorders of glycosylation: Glycosylation defects in man and biological models for their study

被引：54
作者：
Marquardt, T
Freeze, H
机构：
[1] Univ Munster, Kinderheilkunde Klin & Poliklin, D-48149 Munster, Germany
[2] Burnham Inst, La Jolla, CA 92037 USA
来源：
BIOLOGICAL CHEMISTRY | 2001年 / 382卷 / 02期
关键词：
CDG; glycosylation; HEMPAS; LAD II;
D O I：
10.1515/BC.2001.024
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Several inherited disorders affecting the biosynthetic pathways of N-glycans have been discovered during the past years. This review summarizes the current knowledge in this rapidly expanding field and covers the molecular bases of these disorders as well as their phenotypical consequences.
引用
收藏
页码：161 / 177
页数：17
相关论文
共 165 条
[1]  
Aebi M, 2000, GLYCOBIOLOGY, V10, pIII
[2]   Oral ingestion of mannose elevates blood mannose levels: A first step toward a potential therapy for carbohydrate-deficient glycoprotein syndrome type I [J].
Alton, G ;
Kjaergaard, S ;
Etchison, JR ;
Skovby, F ;
Freeze, HH .
BIOCHEMICAL AND MOLECULAR MEDICINE, 1997, 60 (02) :127-133
[3]   Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions [J].
Amado, M ;
Almeida, R ;
Schwientek, T ;
Clausen, H .
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS, 1999, 1473 (01) :35-53
[4]   FULL-FIELD ELECTRORETINOGRAMS IN PATIENTS WITH THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME [J].
ANDREASSON, S ;
BLENNOW, G ;
EHINGER, B ;
STROMLAND, K .
AMERICAN JOURNAL OF OPHTHALMOLOGY, 1991, 112 (01) :83-86
[5]   CONGENITAL DYSERYTHROPOIETIC ANEMIA, TYPES 1 AND 2 - ABERRANT PATTERN OF ERYTHROCYTE-MEMBRANE PROTEINS IN CDA II, AS REVEALED BY 2-DIMENSIONAL POLYACRYLAMIDE-GEL ELECTROPHORESIS [J].
ANSELSTETTER, V ;
HORSTMANN, HJ ;
HEIMPEL, H .
BRITISH JOURNAL OF HAEMATOLOGY, 1977, 35 (02) :209-&
[6]   Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome [J].
Babovic-Vuksanovic, D ;
Patterson, MC ;
Schwenk, WF ;
O'Brien, JF ;
Vockley, J ;
Freeze, HH ;
Mehta, DP ;
Michels, VV .
JOURNAL OF PEDIATRICS, 1999, 135 (06) :775-781
[7]   RED-CELL MEMBRANE-PROTEIN ANOMALIES IN CONGENITAL DYSERYTHROPOIETIC ANEMIA, TYPE-II (HEMPAS) [J].
BAINES, AJ ;
BANGA, JPS ;
GRATZER, WB ;
LINCH, DC ;
HUEHNS, ER .
BRITISH JOURNAL OF HAEMATOLOGY, 1982, 50 (04) :563-574
[8]  
BALLOU CE, 1974, ADV ENZYMOL RAMB, V40, P239
[9]   THE SACCHAROMYCES-CEREVISIAE DPM1 GENE ENCODING DOLICHOL-PHOSPHATE-MANNOSE SYNTHASE IS ABLE TO COMPLEMENT A GLYCOSYLATION-DEFECTIVE MAMMALIAN-CELL LINE [J].
BECK, PJ ;
ORLEAN, P ;
ALBRIGHT, C ;
ROBBINS, PW ;
GETHING, MJ ;
SAMBROOK, JF .
MOLECULAR AND CELLULAR BIOLOGY, 1990, 10 (09) :4612-4622
[10]  
Bhaumik M, 1998, CANCER RES, V58, P2881
12345678910