Sphingolipid activator proteins (SAPs) in neuronal ceroid lipofuscinoses (NCL)

Neuropediatrics

Volumn 28, Issue 1, 1997, Pages 49-52

  Tyynelä, Jaana ^a   Suopanki, J ^a   Baumann, M ^a   Haltia, M ^b  

^a UNIVERSITY OF HELSINKI   (Finland)

^b Department of Pathology ^*  (Finland)

Author keywords

Animal models; Infantile neuronal ceroid lipofuscinosis; Protein accumulationI; Storage disorder

Indexed keywords

PALMITOYL PROTEIN THIOESTERASE; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; SPHINGOLIPID ACTIVATOR PROTEIN; THIOL ESTER HYDROLASE; UNCLASSIFIED DRUG;

DOG; ENZYME SUBUNIT; HUMAN; NEURONAL CEROID LIPOFUSCINOSIS; NONHUMAN; PRIORITY JOURNAL; SHEEP; SHORT SURVEY; STORAGE DISEASE;

EID: 0030744225     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-973667     Document Type: Short Survey

References (41)

1. Camp, L., L. Verkruyse, S Afendis, C. Slaughter, S Hofmann: Molecular cloning and expression of palmitoyl-protein thioesterase. J Biol. Chem 269 (1994) 23212-23219
2. Faust, J., J. Rodman, P. Daniels, J Dice, R. Bronson: 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 (1994) 10150-10155
3. Fearnley, I., J. Walker, R. Martinus, R. Jolly, K. Kirkland, G. Shaw, D. Palmer: The sequence of the major protein stored in ovine ceroid lipofuscinosis is identical with that of the dicyclohexylcarbodiimide-reactive proteolipid of mitochondrial ATP synthase. Biochem J. 268 (1990) 751-758
4. Fisher, G., H. Jatzkewitz' The activator of cerebroside-sulphatase a model of the activation Biochem. Biophys. Acta 528 (1978) 69-76
5. Furst, W, K. Sandhoff Activator proteins and topology of lysosomal sphingolipid catabolism. Biochem Biophys Acta 1126 (1992) 1-16
6. Goebel, H., F. Gullotta, T. Bajanowski, F. Hansen, H. Braak. Pigment variant of neuronal ceroid-lipofuscinosis. Am. J. Med. Genet. 57 (1995) 155-159
7. Hall, N., B. Lake, N. Dewji, A. Patrick: Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten's disease (ceroid-lipofuscinosis) Biochem. J 275 (1991) 269-272
8. Haltia, M., J. Rapola, P. Santavuori, A. Keranen: Infantile type of so-called neuronal ceroid-lipofuscinosis. Part II. Morphological and biochemical studies. J. Neurol. Sci. 18 (1973) 269-285
9. Haltia, M., J. Tyynelä, M. Banmann, M. Henseler, K. Sandhoff: Immunological studies on sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses Gerontology 41 (suppl 2) (1995) 239-248
10. Hellsten, E., J. Vesa, V. Olkkonen, A. Jalanko, L. Peltonen: Palmitoyl protein thioesterase: evidence for lysosomal targetting of the enzyme and disturbed cellular processing in infantile neuronal ceroid-lipofuscinosis. E.M.B.O.J. 15 (1996) 5240-5245
11. Hineno, T., A. Sana, K. Kondoh, S. Ueno, Y. Kakomoto, K. Yoshida: Secretion of sphingolipid hydrolase activator precursor, prosaposm. Biochem. Biophys. Res Commun. 176 (1991) 668-674
12. Ho, M., J O'Brien, N. Radin, J Ericson: Glucocerebrosidase: Reconstitution of activity from macromolecular components. Biochem. J. 131 (1973) 173-176
13. Hofmann, S., L. A. Lee, J.-Y. Lu, L. A. Verkruyse. Palmitoyl-protein thioesterase and the molecular pathogenesis of infantile neuronal ceroid-lipofuscinosis. Neuropediatrics 28 (1997) 27-30
14. Holtschmidt, H., K. Sandhoff, H. Kwon, K Harzer, T. Nakano, K Suzuki Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease. J. Biol Chem. 266 (1991) 7556-7560
15. Järplid, B., M. Haltia: An animal model of the infantile neuronal ceroid-lipofuscinosis. J. Inher Metab. Dis. 16 (1993) 274-277
16. Jolly, R., D. Palmer, V. Studdert, R. Sutton, W. Kelly, N. Koppang, G. Dahme, W. Hartleys, J. Patterson, R. Riis: Canine ceroid-lipofuscinoses: A review and classification J Small Anim. Pract. 30 (1994) 299-306
17. Kishimoto, Y., M Hiraiwa, J. O'Brien: Saposins: structure, function, distribution, and molecular genetics. J. Lipid Res 33 (1992) 1255-1267
18. Klein, A., M. Henseler, C Klein, K. Suzuki, K. Harzer, K. Sandhoff. Sphingolipid activator protein D (sap-D) stimulates the lysosomal degradation of ceramide in vivo. Biochem. Biophys. Res. Commun. 200 (1994) 1440-1448
19. Koenig, H, T. McDonald, G. Nellhaus: Morphological and histochemical studies of neurolipidosis by light and electron microscopy. J. Neuropathol. Exp. Neurol 23 (1964) 191-193
20. Kretz, K., G. Carson, S. Morimoto, Y. Kishimoto, A. Fluharty, J. O'Brien: Characterization of a mutation in a family with saposin B deficiency: A glycosylation site defect. Proc. Natl. Acad. Sci. USA 87 (1990) 2541-2544
21. Martinus, R., P. Harper, R. Jolly, S Bayliss, G. Midwinter, G. Shaw, D Palmer: 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 (1991) 85-94
22. O'Brien, J., K. Kreiz, N Dewji, D. Wenger, F. Esch, A. Fluharty: Coding of two sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus. Science 241 (1988) 1098-1101
23. O'Brien, J., G. Carson, H.-C. Seo, M. Hiraiwa, Y. Kishimoto: Identification of prosaposin as a neurotrophic factor. Proc. Natl. Acad. Sci USA 91 (1994) 9593-9596
24. Palmer, D., G. Barns, D. Husbands, R. Jolly: 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 (1986) 1773-1777
25. Palmer, D., R. Martinus, S. Cooper, G. Midwinter, J. Reid, R. Jolly: Ovine ceroid lipofuscinosis. The major lipopigment protein and the lipid-binding subunit of mitochondrial ATP synthase have the same N-terminal sequence. J. Biol. Chem. 264 (1989) 5736-5740
26. Palmer, D., J. Fearnley, J. Walker, N. Hall, B. Lake, L. Wolfe, M. Haltia, R. Martinus, R. Jolly: Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease). Am. J. Med. Genet. 42 (1992) 561-567
27. Palmer, D. N., R. D. Jolly, H. C. van Mil, J. Tyynelä, V. J. Westlake: Different patterns of hydrophobic protein storage in different forms of neuronal ceroid lipofuscinosis (NCL, Batten disease). Neuropediatrics 28 (1997) 45-48
28. Palmer, D. N., J. Tyynelä, H. C. van Mil, V J. Westlake, R Jolly: Accumulation of sphingolipid activator proteins (SAPs) A and D in granular osmiophilic deposits in miniature schnauzer dogs with ceroid-lipofuscinosis. J. Inher. Metab. Dis (in press)
29. Qi, X., W. Qin, Y. Sun, K. Kondoh, G. Grabowski: Functional organization of saposin C. Definition of the neurotrophic and acid β-glucosidase activation regions. J. Biol. Chem. 271 (1996) 6874-6880
30. Sano, A., T. Hineno, T. Mizuno, K. Kondoh, S. Ueno, Y. Kakimoto, K. Inui: Sphingolipid hydrolase activator protein and their precursors. Biochem. Biophys Res. Commun. 165 (1989) 1191-1197
31. Schnabel, D., M. Schröder, K. Sandhoff. Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease. FEBS Lett. 284 (1991) 57-59
32. Sprecher-Levy, H., A. Orr-Urtreger, P. Lona, M. Horowitz: Murine prosaposin: expression in the reproductive system of a gene implicated in human genetic diseases. Cell. Mol. Biol. 39 (1993) 287-299
33. Sun, Y., D. Witte, G. Grabowski: Developmental and tissue-specific expression of prosaposin in mRNA in murine tissues. Am. J. Pathol. 145 (1994) 1390-1398
34. Suzuki, K.: Enzymatic diagnosis of sphingolipidoses. Methods Enzymol. 138 (1987) 727-762
35. Tyynelä, J., D. Palmer, M. Baumann, M. Haltia: Storage of saposins A and D in infantile neuronal ceroid-lipofuscinosis. FEBS Lett. 330 (1993) 8-12
36. Tyynelä, J., M. Baumann, M. Henseler, K. Sandhoff, M. Haltia: Sphingolipid activator proteins (SAPs) are stored together with glycosphingolipids in the infantile neuronal ceroid-lipofuscinosis (INCL). Am. J. Med. Genet. 57 (1995) 294-297
37. Tyynelä, J., M. Baumann, M. Henseler, K. Sandhoff, M. Haltia: Sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses: an immunological study. Acta Neuropathol. 89 (1995) 391-398
38. Tyynelä, J., J. Suopanki, P. Santavuori, M. Baumann, M. Haltia: Variant late infantile neuronal ceroid lipofuscinosis: Pathology and Biochemistry. J. Neuropathol. Exp. Neurol. (in press)
39. Vesa, J., E. Hellsten, L. Verkruyse, L. Camp, J. Rapola, P. Santavuori, S. Hofmann, L. Peltonen: Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 376 (1995) 584-587
40. MI activator protein deficiency. Am. J. Med Genet 33 (1989) 255-265
41. Zeman, W., P. Dyken: Neuronal ceroid-lipofuscinosis (Batten's disease): relationship to amaurotic family idiocy? Pediatrics 44 (1969) 570-583