Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type lb

Human Molecular Genetics

Volumn 11, Issue 25, 2002, Pages 3199-3207

  Chen, Li Yuan ^b   Pan, Chi Jiunn ^b   Shieh, Jeng Jer ^a   Chou, Janice Yang ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADENOVIRUS VECTOR; CELL PROTEIN; GLUCOSE 6 PHOSPHATE; LACTACYSTIN; MEMBRANE PROTEIN; PHOSPHATE TRANSPORTER; PROTEASOME INHIBITOR; ACETYLCYSTEINE; ANTIPORTER; CYSTEINE PROTEINASE; CYSTEINE PROTEINASE INHIBITOR; DRUG DERIVATIVE; GLUCOSE 6 PHOSPHATASE; GLUCOSE 6 PHOSPHATE(TRANSPORTER); GLUCOSE 6-PHOSPHATE(TRANSPORTER); GLUCOSE TRANSPORTER; MULTIENZYME COMPLEX; PEPTIDE; PROTEASOME; SLC37A4 PROTEIN, HUMAN; VIRUS PROTEIN;

AMINO TERMINAL SEQUENCE; ANIMAL CELL; BIOASSAY; CODON; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; GENE DELETION; GENE EXPRESSION SYSTEM; GENE INACTIVATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GLYCOGEN STORAGE DISEASE TYPE 1; HUMAN; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN DEGRADATION; PROTEIN FUNCTION; PROTEIN STABILITY; PROTEIN STRUCTURE; PROTEIN TRANSPORT; REVIEW; SENSITIVITY ANALYSIS; STRUCTURE ACTIVITY RELATION; WILD TYPE; ADENOVIRUS; AMINO ACID SEQUENCE; ANIMAL; ARTICLE; BIOSYNTHESIS; CELL LINE; CELL STRAIN COS1; CERCOPITHECUS; CHEMISTRY; DRUG ANTAGONISM; ENZYMOLOGY; GENE VECTOR; GENETICS; INTRACELLULAR MEMBRANE; METABOLISM; MICROSOME; MOLECULAR GENETICS; PHYSIOLOGY; PROTEIN TERTIARY STRUCTURE;

ADENOVIRIDAE; ANIMALIA;

ACETYLCYSTEINE; ADENOVIRIDAE; AMINO ACID SEQUENCE; ANIMALS; ANTIPORTERS; CELL LINE; CERCOPITHECUS AETHIOPS; COS CELLS; CYSTEINE ENDOPEPTIDASES; CYSTEINE PROTEINASE INHIBITORS; ENDOPLASMIC RETICULUM; GENETIC VECTORS; GLUCOSE-6-PHOSPHATASE; GLUCOSE-6-PHOSPHATE; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; INTRACELLULAR MEMBRANES; MICROSOMES; MOLECULAR SEQUENCE DATA; MONOSACCHARIDE TRANSPORT PROTEINS; MULTIENZYME COMPLEXES; MUTATION, MISSENSE; PEPTIDES; PROTEASOME ENDOPEPTIDASE COMPLEX; PROTEIN STRUCTURE, TERTIARY; SEQUENCE DELETION; STRUCTURE-ACTIVITY RELATIONSHIP; VIRAL PROTEINS;

EID: 0036899098     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (30)

1. Chou, J.Y., Matern, D., Mansfield, B.C. and Chen, Y.-T. (2002) Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. Curr. Mol. Med., 2, 121-143.
2. Chou, J.Y. and Mansfield, B.C. (1999) Molecular genetics of type I glycogen storage diseases. Trends Endocrinol. Metab., 10, 104-113.
3. Beaudet, A.L., Anderson, D.C., Michels, V.V., Arion, W.J. and Lange, A.J. (1980) Neutropenia and impaired neutrophil migration in type 1B glycogen storage disease. J. Pediatr., 97, 906-910.
4. Gitzelmann, R. and Bosshard, N.U. (1993) Defective neutrophil and monocyte functions in glycogen storage disease type 1b: a literature review. Eur J. Pediatr., 152(Suppl. 1), S33-S38.
5. Hiraiwa, H., Pan, C.-J., Lin, B., Moses, S.W and Chou, J.Y. (1999) Inactivation of the glucose-6-phosphate transporter causes glycogen storage disease type 1b. J. Biol. Chem., 274, 5532-5536.
6. Annabi, B., Hiraiwa, H., Mansfield, B.C., Lei, K.-J., Ubagai, T., Polymeropoulos, M.H., Moses, S.W., Parvari, R., Hershkovitz, E., Mandel, H. et al. (1998) The gene for glycogen storage disease type 1b maps to chromosome 11q23. Am. J. Hum. Genet., 62, 400-405.
7. Chen, L.-Y., Lin, B., Pan, C.-J., Hiraiwa, H. and Chou, J.Y. (2000) Structural requirements for the stability and microsomal transport activity of the human glucose-6-phosphate transporter. J. Biol. Chem., 275, 34280-34286.
8. Gerin, I., Veiga-da-Cunha, M., Achouri, Y., Collet, J.-E and Van Schaftingen, E. (1997) Sequence of a putative glucose-6-phosphate translocase, mutated in glycogen storage disease type 1b. FEBS Lett., 419, 235-238.
9. Lin, B., Annabi, B., Hiraiwa, H., Pan, C.-J. and Chou, J.Y. (1998) Cloning and characterization of cDNAs encoding a candidate glycogen storage disease type 1b protein in rodents. J. Biol. Chem., 273, 31656-31670.
10. Pan, C.-J., Lin, B. and Chou, J.Y. (1999) Transmembrane topology of human Glucose-6-phosphate transporter. J. Biol. Chem., 274, 13865-13869.
11. Lei, K.-J., Chen, H., Pan, C.-J., Ward, J.M., Mosinger, B., Lee, E.J., Westphal, H., Mansfield, B.C., and Chou, J.Y. (1996) Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type 1a mouse. Nature Genet., 13, 203-209.
12. Kaufman, R.J. (1990) Vectors used for expression in mammalian cells. Methods Enzymol., 185, 487-511.
13. Kure, S., Hou, D.-C., Suzuki, Y., Yamagishi, A., Hiratsuka, M., Fukuda, T., Sugie, H., Kondo, N., Matsubara, Y. and Narisawa, K. (2000) Glycogen storage disease type 1b without neutropenia. J. Pediat., 137, 253-256.
14. Wickner, S., Maurizi, M.R. and Gottesman, S. (1999) Posttranslational quality control: folding, refolding, and degrading proteins. Science, 286, 1888-1893.
15. Bross, P., Corydon T.J., Andersen, B.S., Jorgensen M.M., Bolund, L., and Gregersen N. (1999) Protein misfolding and degradation in genetic diseases. Hum. Mut., 14, 186-198.
16. Brodsky, J.L. and McCracken A.A. (1997) ER-associated and proteasome-mediated protein degradation: how two topologically restricted events came together. Trends Cell Biol., 7, 151-156.
17. Lee, D.H. and Goldberg, A.L. (1998) Proteasome inhibitors: valuable new tools for cell biologists. Trends Cell Biol., 8, 397-403.
18. Lecker, S.H., Solomon, V., Mitch, W.E. and Goldberg, A.L. (1999) Muscle protein breakdown and the critical role of the ubiquitin-proteasome pathway in normal and disease states. J. Nutr., 129(Suppl.), 227S-237S.
19. Ward, C.L., Omura, S. and Kopito, R.R. (1995) Degradation of CFTR by the ubiquitin-proteasome pathway. Cell, 83, 121-127.
20. Jensen, T.J., Loo, M.A., Pind, S., Williams, D.B., Goldberg, A.L. and Riordan, J.R. (1995) Multiple proteolytic systems, including the proteasome, contribute to CFTR processing. Cell, 83, 129-135.
21. Shieh, J.-J., Terzioglu, M., Hiraiwa, H., Marsh, J., Pan, C.-J., Chen, L.-Y. and Chou, J.Y (2002) The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase. J. Biol. Chem., 277, 5047-5053.
22. Fenteany, G., Standaert, R.F., Lane, W.S., Choi, S., Corey, E.J. and Schreiber, S.L. (1995) Inhibition of proteasome activities and subunit-specific amino-terminal threonine modification by lactacystin. Science, 268, 726-731.
23. Fenteany, G. and Schriber, S.L. (1998) Lactacystin, proteasome function, and cell fate. J. Biol. Chem., 273, 8545-8548.
24. Antinozzi, P.A., Berman, H.K., O'Doherty, R.M. and Newgard. C.B. (1999) Metabolic engineering with recombinant adenoviruses. Annu. Rev. Nutr., 19, 511-544.
25. Narisawa, K., Igarashi, Y., Otomo, H. and Tada, K. (1978) A new variant of glycogen storage disease type I probably due to a defect in the glucose-6-phosphate transport system. Biochem. Biophys. Res. Commun., 83, 1360-1364.
26. Lange, A.J., Arion, W.J. and Beaudet, A.L. (1980) Type 1b glycogen storage disease is caused by a defect in the glucose-6-phosphate translocase of the microsomal glucose-6-phosphatase system. J. Biol. Chem., 255, 8381-8384.
27. Igarashi, Y., Kato, S., Narisawa, K., Tada, K., Amano, Y., Mori, T. and Takeuchi, S. (1984) A direct evidence for defect in glucose-6-phosphatase transport system in hepatic microsomal membrane of glycogen storage disease type 1b. Biochem. Biophys. Res. Commun., 119, 593-597.
28. Hardy, S., Kitamura, M., Harris-Stansil, T., Dai, Y. and Phipps, M.L. (1997) Construction of adenovirus vectors through Cre-lox recombination. J. Virol., 71, 1842-1849.
29. Graham, F. L. and van der Eb, A.J. (1973) A new technique for the assay of infectivity of human adenovirus 5 DNA. Virology, 52, 456-467.
30. Chirgwin, J. M., Przybyla, A. E., MacDonald, R. J. and Rutter, W J. (1979) Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. Biochemistry, 18, 5294-5299.