Molecular and structural of Japanese patients with sialidosis type 1

Journal of Human Genetics

Volumn 45, Issue 4, 2000, Pages 241-249

  Naganawa, Yasunori ^a,d   Itoh, Kohji ^a   Shimmoto, Michie ^a   Takiguchi, Kyoko ^b   Doi, Hirofumi ^b   Nishizawa, Yuzuru ^c   Kobayashi, Takayoshi ^d   Kamei, Sachiko ^d   Lukong, Kiven E ^e   Pshezhetsky, Alexey V ^e   Sakuraba, Hitoshi ^a  

^a TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^b FUJITSU LABORATORIES LTD   (Japan)

^c NIPPON MEDICAL SCHOOL   (Japan)

^d TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^e UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

Homology modeling; Lysosomal neuraminidase; Protective protein cathepsin A; Sialidosis

Indexed keywords

AMINO ACID; BETA GALACTOSIDASE; DNA; GENE PRODUCT; RNA; SIALIDASE;

ADULT; ANIMAL CELL; ARTICLE; CASE REPORT; ENZYME ACTIVITY; FEMALE; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IMMUNOCYTOCHEMISTRY; JAPAN; MALE; MODEL; MONKEY; NONHUMAN; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SIALIDOSIS; ANIMAL; CELL STRAIN COS1; CHEMICAL STRUCTURE; DNA SEQUENCE; ENZYMOLOGY; GENETICS; IMMUNOHISTOCHEMISTRY; METABOLISM; MISSENSE MUTATION; MUCOLIPIDOSIS; POLYMERASE CHAIN REACTION; PROTEIN CONFORMATION; X RAY CRYSTALLOGRAPHY;

ANIMALIA;

ADULT; ANIMALS; COS CELLS; CRYSTALLOGRAPHY, X-RAY; FEMALE; HUMANS; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; MALE; MODELS, MOLECULAR; MUCOLIPIDOSES; MUTATION, MISSENSE; NEURAMINIDASE; POLYMERASE CHAIN REACTION; PROTEIN CONFORMATION; SEQUENCE ANALYSIS, DNA;

EID: 0033651264     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380070034     Document Type: Article

References (35)

1. Bonten E, van der Spoel A, Fornerod M, Grosveld G, d'Azzo A (1996) Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. Genes Dev 10:3156-3169
2. Claessens M, van Cutsem E, Lasters I, Wodak S (1989) Modeling the polypeptide backbone with "spare parts" from known protein structures. Protein Eng 2:335-345
3. Cooper DN, Youssoufian H (1988) The CpG dinucleotide and human genetic disease. Hum Genet 78:151-155
4. Crennell SJ, Garman EF, Laver WG, Vimr ER, Taylor GL (1993) Crystal structure of a bacterial sialidase (from Salmonella typhimurium LT2) shows the same fold as an influenza virus neuraminidase. Proc Natl Acad Sci USA 90:9852-9856
5. d'Azzo A, Hoogeveen A, Reuser AJ, Robinson D, Galjaard H (1982) Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man. Proc Natl Acad Sci USA 79:4535-4539
6. d'Azzo A, Andria G, Strisciuglio P, Galjaard H (1995) Galactosialidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 7th edn. McGraw-Hill, New York, pp 2825-2837
7. Davis LG, Dibner MD, Battey JF (1986) Basic methods in molecular biology. Elsevier, New York
8. Gluzman Y (1981) SV40-transformed simian cells support the replication of early SV40 mutants. Cell 23:175-182
9. Hiraiwa M, Nishizawa M, Uda Y, Nakajima T, Miyatake T (1988) Human placental sialidase: further purification and characterization. J Biochem 103:86-90
10. Itoh K, Takiyama N, Nagao Y, Oshima A, Sakuraba H, Potier M, Suzuki Y (1991) Acid carboxypeptidase deficiency in galactosialidosis. Jpn J Hum Genet 36:171-178
11. Jones TA, Thirup S (1986) Using known substructures in protein model building and crystallography. EMBO J 5:819-822
12. Kawasaki ES (1990) Amplification of RNA. In: Innis MA, Gelfand DH, Sninsky JJ, White TJ (eds) PCR protocols. A guide to methods and applications. Academic Press, San Diego, pp 21-27
13. Laemmli UK (1970) Cleavage of structure proteins during the assembly of the head bacteriophage T4. Nature 227:680-685
14. MacGregor GR, Caskey CT (1989) Construction of plasmids that express E. coli β-galactosidase in mammalian cells. Nucleic Acids Res 17:2365
15. McLachlan AD (1979) Gene duplications in the structural evolution of chymotrypsin. J Mol Biol 128:49-79
16. Milner CM, Smith SV, Carrillo MB, Taylor GL, Hollinshead M, Campbell RD (1997) Identification of a sialidase encoded in the human major histocompatibility complex. J Biol Chem 272:4549-4558
17. Mitoma H, Uchiyama T, Yokota T, Furukawa T, Tsukagoshi H (1993) Action myoclonus induced guided movement. J Neurol 241:92-95
18. Miyazaki J, Takaki S, Araki K, Tashiro F, Tominaga A, Takatsu K, Yamamura K (1991) Efficient selection for high-expression transfectants with a novel eukaryotic vector. Gene 108:193-200
19. Pshezhetsky AV, Richard C, Michaud L, Igdloura S, Wang S, Elsliger M-A, Qu J, Leclerc D, Dallaire L, Potier M (1997) Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. Nature Genet 15:316-320
20. Sakuraba H, Itoh K, Shimmoto M, Utsumi K, Kase R, Hashimoto Y, Ozawa T, Ohwada Y, Imataka G, Eguchi M, Furukawa T, Schepers U, Sandhoff K (1999) GM2 gangliosidosis AB variant. Clinical and biochemical studies of a Japanese patient. Neurology 52:372-377
21. Shimmoto M, Sakuraba H, Suzuki Y (1993) Protective protein gene mutations in galactosialidosis. J Clin Invest 91:2393-2398
22. Sussman JL, Lin D, Jiang J, Manning NO, Prilusky J, Ritter O, Abola EE (1998) Protein data bank (PDB): database of three-dimensional structural information of biological macromolecules. Acta Crystallogr D54:1078-1084
23. Sutcliffe MJ, Hayes FRF, Blundell TL (1987) Knowledge based modeling of homologous proteins, part II: rules for the conformations of substituted side chains. Protein Eng 1:385-392
24. Suzuki K (1987) Enzymatic diagnosis of sphingolipidoses. In: Ginsbury V(ed) Methods in enzymology, vol 138. Academic Press, New York, pp 727-762
25. Suzuki Y, Sakuraba H, Potier M, Akagi M, Sakai M, Beppu H (1981) β-Galactosidase-neuraminidase deficiency in adults: deficiency of a freeze-labile neuraminidase in leukocytes and fibroblasts. Hum Genet 58:387-389
26. Thomas GH, Beaudet AL (1995) Disorders of glycoprotein degradation and structure: α-mannosidosis, β-mannosidosis, fucosidosis, sialidosis, aspartylglucosaminuria, and carbohydrate-deficient glycoprotein syndrome. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 7th edn. McGraw-Hill, New York, pp 2529-2561
27. van der Horst G, Galjart A, d'Azzo A, Galjaard H, Verheijen FW (1989) Indentification and in vitro reconstitution of lysosomal neuraminidase from human placenta. J Biol Chem 264:1317-1322
28. van der Spoel A, Bonten E, d'Azzo A (1998) Transport of human lysosomal neuraminidase to mature lysosomes requires protective protein/cathepsin A. EMBO J 17:1588-1597
29. Verheijen FW, Brossmer R, Galjaard H (1982) Purification of acid β-galactosidase and acid neuraminidase from bovine testis: evidence for an enzyme complex. Biochem Biophys Res Commun 108:868-875
30. Verheijen FW, Palmeri S, Hoogeveen AT, Galjaard H (1985) Human placental neuraminidase. Activation, stabilization and association with β-galactosidase and its protective protein. Eur J Biochem 149:315-321
31. Verheijen FW, Palmeri S, Galjaard H (1987) Purification and partial characterization of lysosomal neuraminidase from human placenta. Eur J Biochem 162:63-67
32. Vinogradova MV, Michaudo L, Mezentsev AV, Lukong KE, El-Alfy M, Morales CR, Potier M, Pshezhetsky AV (1998) Molecular mechanism of lysosomal sialidase deficiency in galactosialidosis involves its rapid degradation. Biochem J 330:641-650
33. Weiner SJ, Kollman PA, Case DA, Singh UC, Ghio C, Alagona G, Profeta S Jr, Weiner P (1984) A new force field for molecular mechanical simulation of nucleic acids and proteins. J Am Chem Soc 106:765-784
34. Weiner SJ, Kollman PA, Nguyen DT, Case DA (1986) An all atom force field for simulations of proteins and nucleic acids. J Comput Chem 7:230-252
35. Yamamoto M, Yamauchi T, Yamamoto K, Kobayashi T (1995) Activated sialidase activity in transformed lymphocytes by Epstein-Barr (EB) virus of sialidosis type I (cherry-red spot-myoclonus syndrome). J Neurol Sci 131:105-107