Human and murine glycerol kinase: Influence of exon 18 alternative splicing on function

Biochemical and Biophysical Research Communications

Volumn 331, Issue 1, 2005, Pages 239-246

  Ohira, Riki H ^a   Dipple, Katrina M ^a   Zhang, Yao Hua ^a   McCabe, Edward R B ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Apoptosis; Differential expression; Enzyme kinetics; Glycerol kinase; Glycerol kinase deficiency; Glycerol metabolism; Isoforms; Km; Subcellular localization; Vmax; Voltage dependent anion channel

Indexed keywords

ADENOSINE TRIPHOSPHATE; GLYCEROL; GLYCEROL KINASE;

ADULT; ALTERNATIVE RNA SPLICING; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CELL LINE; CELL MATURATION; CELL METABOLISM; CELLULAR DISTRIBUTION; CONTROLLED STUDY; EMBRYO DEVELOPMENT; EXON; FETUS; HEART; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE; MITOCHONDRION; MOUSE; NEWBORN; NONHUMAN; NORTHERN BLOTTING; ORTHOLOGY; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; RAT; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STATISTICAL SIGNIFICANCE; TISSUE DISTRIBUTION;

EID: 17444421498     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbrc.2005.03.143     Document Type: Article

References (29)

1. E. McCabe, in: C. Scriver, A. Beaudet, W. Sly, D. Valle, B. Childs, B. Vogelstein (Eds.), Metabolic and Molecular Bases of Inherited Diseases, McGraw-Hill, New York, 2001, 2217-2237
2. C.A. Sargent, C. Young, S. Marsh, M.A. Ferguson-Smith, and N.A. Affara Human Mol. Genet. 3 1994 1317 1324
3. J.A. Martinez, E.R.B. McCabe, Conserved family of glycerol kinase loci in Drosophia melanogaster (2005), submitted
4. Y. Zhang, K.M. Dipple, E. Vilain, B.L. Huang, G. Finlayson, B.L. Therrell, K. Worley, P. Deininger, and E.R. McCabe Aluy insertion (ivs4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency Hum. Mutat. 15 2000 316 323
5. C.A. Sargent, A. Kidd, S. Moore, J. Dean, G.T.N. Besley, and N.A. Affara Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype: phenotype correlation J. Med. Genet. 37 2000 434 441
6. C.A. Sargent, N.A. Affara, E. Bentley, A. Pelmear, D.M.D. Bailey, P. Davey, D. Dow, M. Leversha, H. Aplin, G.T.N. Besley, and M.A. Ferguson-Smith Cloning of the x-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue Human Mol. Genet. 2 1993 97 106
7. A.P. Walker, F. Muscatelli, and A.P. Monaco Isolation of the human xp21 glycerol kinase gene by positional cloning Human Mol. Gen. 2 1993 107 114
8. W. Guo, K. Worley, V. Adams, J. Mason, D. Sylvester-Jackson, Y.-H. Zhang, J.A. Towbin, D.D. Fogt, S. Madu, D.A. Wheeler, and E.R.B. McCabe Genomic scanning for expressed sequences in xp21 identifies the glycerol kinase gene Nat. Genet. 4 1993 367 372
9. A.H.M.M. Huq, R.S. Lovell, M.J. Sampson, W.K. Decker, M.B. Dinulos, C.M. Disteche, and W.J. Craigen Isolation, mapping, and functional expression of the mouse x chromosome glycerol kinase gene Genomics 36 1996 530 534
10. A.H.M.M. Huq, R.S. Lovell, C.-N. Ou, A.L. Beaudet, and W.J. Craigen X-linked glycerol kinase deficiency in the mouse leads to growth retardation, altered fat metabolism, autonomous glucocorticoid secretion and neonatal death Human Mol. Genet. 6 1997 1803 1809
11. N. Kuwada, K. Nagano, N. MacLennan, J. Havens, M. Kumar, K.M. Dipple, E.R.B. McCabe, Gene therapy for murine glycerol kinase (gk) deficiency: improved correction with adenoviral constructs coding for mouse gyk versus human gk (2005), submitted
12. M.A. Guggenheim, E.R. McCabe, M. Roig, S.I. Goodman, G.M. Lum, W.W. Bullen, and S.P. Ringel Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities Ann. Neurol. 7 1980 441 449
13. E.R.B. McCabe, D. Sadava, W.W. Bullen, H.A. McKelvey, and W.K. Seltzer Human glycerol kinase deficiency: enzyme kinetics and fibroblast hybridization J. Inherited Metab. Dis. 5 1982 177 182
14. C.W. Smith, J.G. Patton, and B. Nadal-Ginard Ann. Rev. Genet. 23 1989 527 577
15. A.P. Walker, F. Muscatelli, A.N. Stafford, J. Chelly, N. Dahl, H.K. Blomquist, J. Delanghe, P.J. Willems, B. Steinmann, and A.P. Monaco Mutations and phenotype in isolated glycerol kinase deficiency Am. J. Hum. Genet. 58 1996 1205 1211
16. W.K. Seltzer, and E.R.B. McCabe Human and rat adrenal glycerol kinase: subcellular distribution and bisubstrate kinetics Mol. Cell. Biochem. 62 1984 43 50
17. Y. Elgersma, L. Kwast, B.M. van den, W.B. Snyder, B. Distel, S. Subramani, and H.F. Tabak EMBO J. 16 1997 7326 7341
18. A.K. Ostlund, U. Gohring, J. Krause, and D. Brdiczka Biochem. Med. 30 1983 231 245
19. K.G. Wolter, Y.T. Hsu, C.L. Smith, A. Nechushtan, X.G. Xi, and R.J. Youle J. Cell. Biol. 139 1997 1281 1292
20. M. Zoratti, and I. Szabo Biochim. Biophys. Acta 1241 1995 139 176
21. V. Adams, L. Griffin, J. Towbin, B. Gelb, K. Worley, and E.R. McCabe Biochem. Med. Metab. Biol. 45 1991 271 291
22. R. Kramer, and F. Palmieri Biochim. Biophys. Acta 974 1989 1 23
23. E.R.B. McCabe Biochem. Med. 30 1983 215 230
24. M.Y. Vyssokikh, and D. Brdiczka Acta Biochim. Pol. 50 2003 389 404
25. J.G. Pastorino, N. Shulga, and J.B. Hoek J. Biol. Chem. 277 2002 7610 7618
26. M.Y. Vyssokikh, L. Zorova, D. Zorov, G. Heimlich, J.J. Jurgensmeirer, and D. Brdiczka Mol. Biol. Rep. 29 2002 93 96
27. J.A. Martinez, E.R.B. McCabe, American Society of Human Genetics Meeting, 2004, Abstract 76
28. K. Okamoto, H. Hirano, and F. Isohashi Molecular cloning of rat liver glucocorticoid-receptor translocation promoter Biochem. Biophys. Res. Commun. 193 1993 848 854
29. K. Okamoto, F. Isohashi, K. Ueda, I. Kokufu, and Y. Sakamoto Endocrinology 123 1988 2752 2761