Increased expression of β-hexosaminidase α chain in cultured skin fibroblasts from patients with carbohydrate-deficient glycoprotein syndrome type I

Brain and Development

Volumn 20, Issue 5, 1998, Pages 302-306

  Ichisaka, Satoshi ^a   Ohno, Kousaku ^a,b   Yuasa, Isao ^b   Nanba, Eiji ^c   Sakuraba, Hitoshi ^d   Suzuki, Yoshiyuki ^d  

^a Department of Neurobiology ^*  (Japan)

^b TOTTORI UNIVERSITY   (Japan)

^c TOTTORI UNIVERSITY   (Japan)

^d TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

Author keywords

Carbohydrate deficient glycoprotein syndrome; Glycoprotein; Glycosylation; Isoelectric focusing; Lysosomal enzymes; Sodium dodecyl sulfate polyacrylamide gel electrophoresis

Indexed keywords

ALPHA LEVO FUCOSIDASE; ANTIBODY; BETA N ACETYLHEXOSAMINIDASE A; DODECYL SULFATE SODIUM; GLYCOPROTEIN; LYSOSOME ENZYME; MESSENGER RNA; OLIGOSACCHARIDE; PYRANOSIDE; UMBELLIFERONE DERIVATIVE;

ALPHA CHAIN; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CELL FUNCTION; CHILD; CONGENITAL DISORDER OF GLYCOSYLATION; CONTROLLED STUDY; ENZYME ACTIVITY; GLYCOSYLATION; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; ISOELECTRIC FOCUSING; NORTHERN BLOTTING; POLYACRYLAMIDE GEL ELECTROPHORESIS; PROTEIN BLOOD LEVEL; PROTEIN DEFECT; PROTEIN EXPRESSION; PROTEIN STRUCTURE; SKIN FIBROBLAST;

ALPHA-L-FUCOSIDASE; BETA-N-ACETYLHEXOSAMINIDASE; BLOTTING, NORTHERN; BLOTTING, WESTERN; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FIBROBLASTS; HUMANS; ISOELECTRIC FOCUSING; RNA, MESSENGER; SKIN;

EID: 0031719830     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(98)00035-7     Document Type: Article

References (18)

1. Yamashita K, Ohno, K. Carbohydrate-deficient glycoprotein syndrome type I. In: Montreuil J, Vliegenthart JFG, Schachter H., editors. Glycoproteins and disease. Amsterdam: Elsevier, 1996:445-455.
2. Hagberg BA, Blennow G, Kristiansson B, Stibler H. Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders. Pediatr Neurol 1993;9:255-262.
3. Jaeken J, Stibler H, Hagberg B. The carbohydrate-deficient glyco-protein syndrome. Acta Paediatr Scand 1991; 375(suppl):571.
4. Ohkura T, Fukushima K, Kurisaki A, et al. A partial deficiency of dehydrodolichol reduction is a cause of carbohydrate-deficient glycoprotein syndrome type I. J Biol Chem 1997;272:6868-6875.
5. Matthis G, Schollen E, Pardon E, et al. Mutation in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nat Genet 1997;16:88-92.
6. Jaeken J, Vanderschureren-Lodeweyck M, Casar P, et al. Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome. Pediatr Res 1980;14:179.
7. Winchester B, Clayton P, Mian N, et al. The carbohydrate-deficient glycoprotein syndrome: an experiment of nature in glycosylation. Biochem Soc Trans 1995;23:185-188.
8. Gu J, Wada Y. Aberrant expressions of decorin and biglycan genes in the carbohydrate-deficient glycoprotein syndrome. J Biochem 1995;117:1276-1279.
9. Schaftingen VE, Jaeken J. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett 1995;377:318-320.
10. Yuasa I, Ohno K, Hashimoto K, Iijima K, Yamashita K, Takeshita K. Carbohydrate-deficient glycoprotein syndrome: electrophoretic study of multiple serum glycoproteins. Brain Dev 1995;17:13-19.
11. Ohno K, Yuasa I, Akaboshi S, et al. The carbohydrate-deficient glycoprotein syndrome in three Japanese children. Brain Dev 1992;14:30-35.
12. Emmanuel S, Miriam GB, James BM, Diane KA. Biochemical genetics. A laboratory manual. New York: Oxford University Press, 1989.
13. Ng WG, Donnell GN, Koch R, Bergren WR. Biochemical and genetic studies of plasma and leukocyte α-L-fucosidase. Am J Hum Genet 1976;28:42-50.
14. Tsuji A, Omura K, Suzuki Y. Intracellular transport of acid α-glucosidase in human fibroblasts: evidence for involvement of phosphomannosyl receptor-independent system. J Biochem Tokyo 1988;104:276-278.
15. Nanba E, Tsuji A, Omura K, Suzuki Y. GM1-gangliosidosis: abnormalities in biosynthesis and early processing of β-galactosidase in fibroblasts. Biochem Biophys Res Commun 1988;152:794-800.
16. Ohno K, Suzuki K. Multiple abnormal β-hexosaminidase α chain mRNA in a compound-heterozygous Ashkenazi jewish patients with Tay-Sachs disease. J Biol Chem 1988;263:18563-18567.
17. Proia RL. Gene encoding the human β-hexosaminidase β-chain: extensive homology of intron placement in the α- and β-chain genes. Proc Natl Acad Sci (USA) 1988;85:1883-1887.
18. Proia RL, d'Azzo A, Neufeld E. Association of α- and β-subunits during the biosynthesis of β-hexosaminidase in cultured fibroblasts. J Biol Chem 1984;259:3350-3354.