Diseases of abnormal protein glycosylation: An emerging area

被引:44
作者
Kornfeld, S [1 ]
机构
[1] Washington Univ, Sch Med, Dept Med, St Louis, MO 63110 USA
关键词
D O I
10.1172/JCI3140
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
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页码:1293 / 1295
页数:3
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共 10 条
[1]   RECURRENT SEVERE INFECTIONS CAUSED BY A NOVEL LEUKOCYTE ADHESION DEFICIENCY [J].
ETZIONI, A ;
FRYDMAN, M ;
POLLACK, S ;
AVIDOR, I ;
PHILLIPS, ML ;
PAULSON, JC ;
GERSHONIBARUCH, R .
NEW ENGLAND JOURNAL OF MEDICINE, 1992, 327 (25) :1789-1792
[2]   INCOMPLETE SYNTHESIS OF N-GLYCANS IN CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE-II CAUSED BY A DEFECT IN THE GENE ENCODING ALPHA-MANNOSIDASE-II [J].
FUKUDA, MN ;
MASRI, KA ;
DELL, A ;
LUZZATTO, L ;
MOREMEN, KW .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1990, 87 (19) :7443-7447
[3]  
FUKUDA MN, 1987, J BIOL CHEM, V262, P7195
[4]   FAMILIAL PSYCHOMOTOR RETARDATION WITH MARKEDLY FLUCTUATING SERUM PROLACTIN, FSH AND GH LEVELS, PARTIAL TBG-DEFICIENCY, INCREASED SERUM ARYLSULFATASE-A AND INCREASED CSF PROTEIN - NEW SYNDROME [J].
JAEKEN, J ;
VANDERSCHUERENLODEWEYCKX, M ;
CASAER, P ;
SNOECK, L ;
CORBEEL, L ;
EGGERMONT, E ;
EECKELS, R .
PEDIATRIC RESEARCH, 1980, 14 (02) :179-179
[5]  
KORNFELD R, 1985, ANNU REV BIOCHEM, V54, P631, DOI 10.1146/annurev.biochem.54.1.631
[6]   Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome) [J].
Matthijs, G ;
Schollen, E ;
Pardon, E ;
VeigaDaCunha, M ;
Jaeken, J ;
Cassiman, JJ ;
VanSchaftingen, E .
NATURE GENETICS, 1997, 16 (01) :88-92
[7]   Carbohydrate-deficient glycoprotein syndrome type Ib -: Phosphomannose isomerase deficiency and mannose therapy [J].
Niehues, R ;
Hasilik, M ;
Alton, G ;
Körner, C ;
Schiebe-Sukumar, M ;
Koch, HG ;
Zimmer, KP ;
Wu, RR ;
Harms, E ;
Reiter, K ;
von Figura, K ;
Freeze, HH ;
Harms, HK ;
Marquardt, T .
JOURNAL OF CLINICAL INVESTIGATION, 1998, 101 (07) :1414-1420
[8]   FIBROBLASTS FROM PATIENTS WITH I-CELL DISEASE AND PSEUDO-HURLER POLYDYSTROPHY ARE DEFICIENT IN URIDINE 5'-DIPHOSPHATE-N-ACETYLGLUCOSAMINE - GLYCOPROTEIN N-ACETYLGLUCOSAMINYLPHOSPHOTRANSFERASE ACTIVITY [J].
REITMAN, ML ;
VARKI, A ;
KORNFELD, S .
JOURNAL OF CLINICAL INVESTIGATION, 1981, 67 (05) :1574-1579
[9]  
Tan J, 1996, AM J HUM GENET, V59, P810
[10]   BIOLOGICAL ROLES OF OLIGOSACCHARIDES - ALL OF THE THEORIES ARE CORRECT [J].
VARKI, A .
GLYCOBIOLOGY, 1993, 3 (02) :97-130