The Neuronal Ceroid Lipofuscinoses (Batten Disease): A Group of Lysosomal Proteinoses

Advances in Experimental Medicine and Biology

Volumn 389, Issue , 1996, Pages 129-136

  Palmer, D N ^a   Hay, J M ^a  

^a LINCOLN UNIVERSITY   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; WATER; LYSOSOME ENZYME; OUTER MEMBRANE PROTEIN; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE;

ANIMAL; CELL ORGANELLE; CHEMISTRY; GENETIC LINKAGE; GENETICS; HUMAN; LYSOSOME STORAGE DISEASE; METABOLISM; NEURONAL CEROID LIPOFUSCINOSIS; REVIEW; SOLUBILITY; ANIMAL CELL; CONFERENCE PAPER; FATTY ACID OXIDATION; HUMAN CELL; LIPID METABOLISM; NONHUMAN; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEINOSIS; SHEEP; STRUCTURE ACTIVITY RELATION; SYMPTOMATOLOGY;

ANIMALS; HUMANS; LINKAGE (GENETICS); LYSOSOMAL STORAGE DISEASES; NEURONAL CEROID-LIPOFUSCINOSES; ORGANELLES; PROTEINS; SOLUBILITY; WATER;

ANIMALIA; OVIS ARIES;

EID: 0030345674     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4613-0335-0_15     Document Type: Article

References (55)

1. Dyer, M. R., Gay, N. J. and Walker, J. E., 1989, DNA sequences of a bovine gene and of two related pseudogenes for the proteolipid subunit of mitochondrial ATP synthase, Biochem. J. 260:249-258.
2. Dyer, M. R. and Walker, J. E., 1993, Sequences of members of the human gene family for the c subunit of mitochondrial ATP synthase, Biochem. J. 293:51-64.
3. Dyken, P. R., 1988, Reconsideration of the classification of the neuronal ceroid-lipofuscinoses, Am. J. Med. Genet. Suppl. 5:69-84.
4. Ezaki, J., Wolfe, L. S., Higuti, T., Ishidoh, K. and Kominami, E., 1995, Specific delay of degradation of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid-lipofuscinosis (Batten disease), J. Neurochem. In press.
5. Faust, J. R., Rodman, J. S., Daniel, P. F., Dice, J. F. and Bronson, R. T., 1994, Two related proteolipids and dolichol-linked oligosaccharides accumulate in motor neuron degeneration mice (mnd/mnd), a model for neuronal ceroid lipofuscinosis, J. Biol. Chem. 269:10150-10155.
6. Fearnley, I. M., Walker, J. E., Martinus, R. D., Jolly, R. D., Kirkland, K. B., Shaw, G. J. and Palmer, D. N., 1990, The sequence of the major protein stored in ovine ceroid lipofuscinosis is identical to that of the dicyclohexylcarbodiimide-reactive proteolipid of mitochondrial ATP synthase, Biochem. J. 268:751-758.
7. Fujibayashi, S. and Wenger, D. A., 1986, Synthesis and processing of sphingolipid activator protein-2 (SAP-2) in cultured human fibroblasts, J. Biol. Chem. 261:15339-15343.
8. Gay, N. J. and Walker, J. E., 1985, Two genes encoding the bovine mitochondrial ATP synthase proteolipid specify precursors with different import sequences and are expressed in a tissue-specific manner, EMBO J. 4:3519-3524.
9. Glover L. A. and Lindsay J. G., 1992, Targeting proteins to mitochondria: a current overview, Biochem. J. 284:609-620.
10. Hannavy K., Rospert S. and Schatz G., 1993, Protein import into mitochondria: a paradigm for the translocation of polypeptides across membranes. Curr. Opin. Cell Biol. 5:694-700.
11. Hare, J. F., 1990, Mechanisms of membrane protein turnover. Biochim. Biophys. Acta 1031:71-90.
12. Hartl, F-U., Pfanner, N., Nicholson, D. W. and Neupert, W., 1989, Mitochondrial protein import, Biochim. Biophys. Acta 988:1-45.
13. Hendrick, J. P., Hodges, P. E. and Rosenberg, L. E., 1989, Survey of amino-terminal proteolytic cleavage sites in mitochondrial precursor proteins: Leader peptides cleaved by two matrix proteases share a three-amino acid motif, Proc. Natl. Acad. Sci. (USA) 86:4056-4060.
14. Hershko, A. and Cienchanover, A., 1992, The ubiquitin system for protein degradation, Ann. Rev. Biochem. 61:761-807.
15. +-ATP synthase in rat mitochondria, Biochim. Biophys. Acta 1172:311-314.
16. Järvelä, I., Vesa, J., Santavuori, P., Hellsten, E. and Peltonen, L., 1992, Molecular genetics of the neuronal ceroid lipofuscinoses, Pediat. Res. 32:645-648.
17. Jolly, R. D., Martinus, R. D. and Palmer, D. N., 1992, Sheep and other animals with ceroid-lipofuscinoses: Their relevance to Batten disease, Am. J. Med. Genet. 42:609-614.
18. Jolly, R. D., Palmer, D. N., Studdert, V. P., Sutton, R. H., Kelly, W. R., Koppang, N., Dahme, G., Hartley, W. J., Patterson, J. S. and Riis, R. C., 1994, Canine ceroid-lipofuscinoses: A review and classification, J. Small Anim. Pract. 35:299-306.
19. Kao, F. T., Law, M. L., Hartz, J., Jones, C., Zhang, X-L., Dewji, N. N., O'Brien, J. S. and Wenger, D. A., 1988, Regional localization of the gene coding for sphingolipid activator protein (SAP-1) on human chromosome 10, Somat. Cell Molec. Genet. 13:685-688.
20. Katz, M. L., Christianson, J. S., Norbury, N. E., Gao, C.-L., Siakotos, A. N. and Koppang, N., 1994, Lysine methylation of mitochondrial ATP synthase subunit c stored in tissues of dogs with hereditary ceroid lipofuscinosis, J. Biol. Chem. 269:9906-9911.
21. Katz, M. L. and Gerhardt, K. O., 1990, Storage protein in hereditary ceroid lipofuscinosis contains S-methylated methionine, Mech. Ageing Dev. 53:277-290.
22. Katz, M. L. and Gerhardt, K. O., 1992, Methylated lysine in storage body protein of sheep with hereditary ceroid-lipofuscinosis, Biochim. Biophys. Acta 1138:97-108.
23. Katz, M. L. and Rodrigues, M., 1991, Juvenile ceroid-lipofuscinoses. Evidence for methylated lysine in neural storage body protein, Am. J. Pathol. 138:323-332.
24. Kishimoto, Y., Hiraiwa, M. and O'Brien, J. S., 1992, Saposins: structure, function, distribution, and molecular genetics, J. Lipid Res. 33:1255-1267.
25. Kohlschütter, A., Gardiner, R. M. and Goebel, H. H., 1993, Human forms of neuronal ceroid lipofuscinosis (Batten disease): consensus on diagnostic criteria, Hamburg 1992, J. Inher. Metab. Dis. 16:241-244.
26. Laszlo, L., Doherty, F. J., Osborn, N. U. and Mayer, R. J., 1990, Ubiquinated protein conjugates are specifically enriched in the lysosomal system of fibroblasts, FEBS Lett. 261:365-368.
27. Magnani, M., Serafini, G., Antonelli, A., Malatesta, M. and Gazzanelli, G., 1991, Evidence for a particulate location of ubiquitin conjugates and ubiquitin-conjugating enzymes in rabbit brain, J. Biol. Chem. 266:21018-21024.
28. +-ATPases, Proc. Natl. Acad. Sci. (USA) 85:5521-5524.
29. Martinus, R. D., Harper, P. A. W., Jolly, R. D., Bayliss, S. L., Midwinter, G. G., Shaw, G. J. and Palmer, D. N., 1991, Bovine ceroid-lipofuscinosis (Batten's disease): The major component stored is the DCCD-reactive proteolipid, subunit c, of mitochondrial ATP synthase, Vet. Res. Commun. 15:85-94.
30. Medd, S. M., Walker, J. E. and Jolly, R. D., 1993, Characterization of the expressed genes for subunit c of mitochondrial ATP synthase in sheep with ceroid lipofuscinosis, Biochem. J. 293:65-73.
31. Mellman, I., Fuchs, R. and Helenius, A., 1986, Acidification of the endocytic and exocytic pathways, Ann. Rev. Biochem. 55:663-700.
32. Messer, A., Plummer, J., Maskin, P., Coffin, J. M. and Frankel, W. N., 1992, Mapping of the motor neuron degeneration (Mnd) gene, a mouse model of amyotrophic lateral sclerosis (ALS), Genom. 18:797-802.
33. Mitchison, H. M., Taschner, P. E. M., O'Rawe, A. M., De Vos, N., Phillips, H. A., Thompson, A. D., Kozman, H. M., Haines, J. L., Schlumpf, K., D'Arigo, K., Boustany, R.-M. N., Callen, D. F., Breuning, M. H., Gardiner, R. M., Mole, S. E. and Lerner, T. J., 1994, Genetic mapping of the Batten disease locus (CLN3) to the interval D16S288-D16S383 by analysis of haplotypes and allelic association, Genom. 22:465-468.
34. Moroni-Rawson, P., Palmer, D. N., Jolly, R. D. and Jordan, T. W., 1995, Variant proteins in ovine ceroid-lipofuscinosis, Am. J. Med. Genet. In press.
35. Palmer, D. N., Barns, G., Husbands, D. R. and Jolly, R. D., 1986b, Ceroid lipofuscinosis in sheep. II. The major component of the lipopigment in liver, kidney, pancreas and brain is low molecular weight protein, J. Biol. Chem. 261:1773-1777.
36. Palmer, D. N., Bayliss, S. L., Clifton, P. A. and Grant, V. J., 1993, Storage bodies in the ceroid lipofuscinoses (Batten disease): Low-molecular-weight components, unusual amino acids and reconstitution of fluorescent bodies from non-fluorescent components, J. Inher. Metab. Dis. 16:292-295.
37. Palmer, D. N., Fearnley, I. M., Medd, S. M., Walker, J. E., Martinus, R. D., Bayliss, S. L., Hall, N. A., Lake, B. D., Wolfe, L. S. and Jolly, R. D., 1990, Lysosomal storage of the DCCD reactive proteolipid subunit of mitochondrial ATP synthase in human and ovine ceroid lipofuscinoses. In Lipofuscin and Ceroid Pigments, Ed. Porta, E. A., Plenum Press, New York, pp. 211-223.
38. Palmer, D. N., Fearnley, I. M., Walker, J. E., Hall, N. A., Lake, B. D., Wolfe, L. S., Haltia, M., Martinus, R. D. and Jolly, R. D., 1992, Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease), Am. J. Med. Genet. 42:561-567.
39. Palmer, D. N., Husbands, D. R., Winter, P. J., Blunt, J. W. and Jolly, R. D., 1986a, Ceroid lipofuscinosis in sheep I. Bis(monoacylglycero)phosphate, dolichol, ubiquinone, phospholipids, fatty acids and fluorescence in liver lipopigment lipids, J. Biol. Chem. 261:1766-1772.
40. Palmer, D. N., Martinus, R. D., Barns, G., Reeves, R. D. and Jolly, R. D., 1988, Ovine ceroid-lipofuscinosis I. Lipopigment composition is indicative of a lysosomal proteinosis, Am. J. Med. Genet., Suppl. 5:141-158.
41. 2-terminal sequence, J. Biol. Chem. 264:5736-5740.
42. Palmer, D. N., Bayliss, S. L. and Westlake, V. J., 1995, Batten disease and the ATP synthase subunit c turnover pathway: Raising antibodies to subunit c, Am. J. Med. Genet. In press.
43. Pfeifer, U., 1987, Functional morphology of the lysosomal apparatus. In Lysosomes: Their Role in Protein Breakdown, Eds. Glaumann H., Ballard, F. J., Academic Press, London, pp. 3-59.
44. +-ATP synthase, Biochim. Biophys. Acta 1184:139-141.
45. Rider, J. A. and Rider, D. L., 1988, Batten disease: Past, present and future, Am. J. Med. Genet., Suppl. 5:21-26.
46. Sandhoff, K. and Klein, A., 1994, Intracellular trafficking of glycosphingolipids: role of sphingolipid activator proteins in the topology of endocytosis and lysosomal digestion, FEBS Lett. 346:103-107.
47. Schwartz, A. L., Trausch, J. S., Ciechanover, A., Slot, J. W. and Geuze, H., 1992, Immunoelectron microscopic localization of the ubiquitin-activating enzyme E1 in HepG2 cells, Proc. Natl. Acad. Sci. (USA) 89:5542-5546.
48. Speilmeyer, W., 1906, Uber eine besondere Form von familiarer amaurotischer Idiotie, Neurol. Zbl. 25:51-55.
49. Tyynelä, J., Palmer, D. N., Baumann, M. and Haltia, M., 1993, Storage of saposins A and D in infantile neuronal ceroid-lipofuscinosis, FEBS Lett. 330:8-12.
50. Tyynelä, J., Baumann M., Henseler, M., Sandhoff, K., and Haltia, M ., 1995, Sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses: An immunological study, Acta Neuropathol. (Berl.) In press.
51. Vesa, J., Hellsten, E., Barnoski, B. L., Emanuel, B. S., Billheimer, J. T., Mead, S., Cowell, J. K., Strauss III, J. F. and Peltonen, L., 1994, Assignment of sterol carrier protein X/sterol carrier protein 2 to Ip32 and its exclusion as the causative gene for infantile neuronal ceroid lipofuscinosis, Hum. Molec. Genet. 3:341-346.
52. 0-ATPaSe from bovine heart mitochondria, Biochemistry 30:5369-5378.
53. Westlake, V. J., Jolly, R. D., Bayliss, S. L. and Palmer, D. N., 1995, Immunocytochemical studies in the ceroid-lipofuscinoses (Batten disease) using antibodies to subunit c of mitochondrial ATP synthase, Am. J. Med. Genet. 57: 177-181.
54. Williams R., Santavuori P., Peltonen L., Gardiner R. M. and Järvelä I., 1994, A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Speilmeyer-Vogt-Sjögren, CLN3) disease: Exclusion of linkage to the CLN3 region of chromosome 16, Genom. 20:289-290.
55. Yan, W. L., Lerner, T. J., Haines, J. L. and Gusella, J. F., 1995, Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA, Genom. 24: 375-377.