Investigation of batten disease with the yeast Saccharomyces cerevisiae

Molecular Genetics and Metabolism

Volumn 66, Issue 4, 1999, Pages 314-319

  Pearce, David A ^a   Sherman, Fred ^a  

^a UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

Author keywords

Batten disease; CLN3; Neuronal ceroid lipofuscinoses; Saccharomyces cerevisiae

Indexed keywords

CEROID; LIPOFUSCIN; PROTEIN;

CONFERENCE PAPER; DISEASE SEVERITY; GENETIC CODE; NEURONAL CEROID LIPOFUSCINOSIS; NONHUMAN; PH MEASUREMENT; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DEFICIENCY; SACCHAROMYCES CEREVISIAE; YEAST;

EID: 0032776067     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1999.2820     Document Type: Conference Paper

References (35)

1. Goebel H H. The neuronal ceroid-lipofuscinoses. J Child Neurol. 10:1995;424-437.
2. Banerjee P, Dasgupta A, Siakotos A N, Dawson G. Evidence for lipase abnormality: High levels of free and triacylglycerol forms of unsaturated fatty acids in neuronal ceroid-lipofuscinosis tissue. Am J Med Genet. 42:1992;549-554.
3. Eiberg H, Gardiner R M, Mohr J. Batten disease (Spielmeyer-Sjogren disease) and haptoglobins (HP): Indication of linkage and assignment to chr. 16. Clin Genet. 36:1989;217-218.
4. Jarvela I, Schuetker J, Haatja L, Santavuori P, Puhakka L, Manninen T, Paltotie A, Sandkuijl L A, Renlund M, White R, Aule P, Peltonen L. Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1. Genomics. 8:1991;170-173.
5. Jarvela I, Mitchison H M, Callen D F, Lerner T F, Doggett N A, Taschner P EM, Gardiner R M, Mole S E. Physical map of the region containing the gene for Batten disease. Am J Med Genet. 57:1995;316-319.
6. Yan W L, Boustany R-M N, Konradi C, Ozelius L, Lerner T, Trofatter J A, Julier C, Breakefield X O, Gusella F, Haines J L. Localization of juvenile, but not late infantile, neuronal ceroid lipofuscinosis on chromosome 16. Am J Hum Genet. 52:1993;89-95.
7. Lerner T, Boustany R-M N, MacCormack K, Gleitsman J, Schlumpf K, Breakefield X O, Gusella F, Haines J L. Linkage disequilibrium between the juvenile ceroid lipofuscinosis gene and marker loci on chromosome 16p 12. 1. Am J Hum Genet. 54:1994;88-94.
8. Williams R, Vesa J, Jarvela I, McKay T, Mitchison H, Hellsten E, Thompson A, Callen D, Sutherland G, Luna-Battadano D, Stallings R, Peltonen L, Gardiner R M. Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): Evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes. Am J Hum Genet. 52:1993;931-935.
9. Haltia M, Rapola L, Santavuori P, Keranen A. Infantile type of so-called neuronal ceroid-lipofuscinosis. 2. Morphological and biochemical studies. J Neurol Sci. 18:1973;269-285.
10. Koenig H, McDonald T, Nellhaus G. Morphological and histochemical studies of neurolipidosis by light and electron microscopy. J Neuropathol Exp Neurol. 23:1964;191-193.
11. Zeman W. The neuronal ceroid lipofuscinosis. Prog Neuropathol. 3:1976;203-223.
12. Constantinidis J, Wisniewski K E, Wisniewski T M. The adult and a new late adult forms of neuronal ceroid lipofuscinosis. Acta Neuropathol. 83:1992;461-468.
13. Hall N A, Lake B D, Dewji N N, Patrick A D. Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten's disease (ceroid-lipofuscinosis). Biochem J. 275:1991;269-272.
14. Palmer D N, Fearnley I M, Walker J E, Hall N A, Lake B D, Wolfe L S, Haltia M, Martinus R D, Jolly R D. Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease). Am J Med Genet. 42:1992;561-567.
15. Palmer D N, Bayliss S L, Westlake V J. Batten disease and the ATP synthase subunit c turnover pathway: Raising antibodies to subunit c. Am J Med Genet. 57:1995;260-265.
16. Ezaki J, Wolfe L S, Higuit T, Ishidoh K, Kominami E. Specific delay of degradation of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid lipofuscinosis (Batten disease). J Neurochem. 64:1995;733-741.
17. Ezaki J, Wolfe L S, Ishidoh K, Kominami E. Abnormal degradative pathway of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid-lipofuscinosis (Batten disease). Am J Med Genet. 57:1995;254-259.
18. Kominami E, Ezaki J, Muno D, Ishido K, Ueno T, Wolfe L S. Specific storage of subunit c of mitochondrial ATP synthase in lysosomes of neuronal ceroid lipofuscinosis (Batten's disease). J Biochem. 111:1992;278-282.
19. Elleder M, Sokolova J, Hrebicek M. Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders. Acta Neuropathol. 93:1997;379-390.
20. Cell. 82:1995;949-957.
21. Katz M L, Gao C-L, Prabhakaram M, Shibuya H, Liu P-C, Johnson G S. Immunochemical localization of the Batten disease (CLN3. Invest Ophthalmol Vis Sci. 38:1997;2375-2386.
22. Jarvela I, Sainio M, Rantamaki T, Olkkonen V M, Carpen O, Peltonen L, Jalenko A. Biosynthesis and intracellular targeting of theCLN3. Hum Mol Genet. 7:1998;85-90.
23. Pearce D A, Sherman F. BTN1, Yeast. 13:1997;691-697.
24. Pearce D A, Sherman F. A yeast model for the study of Batten disease. Proc Natl Acad Sci USA. 95:1998;6915-6918.
25. Maniatis T, Fritsch E F, Sambrook J. Molecular Cloning: A Laboratory Manual. 1982;Cold Spring Harbor Laboratory Press, Cold Spring Harbor.
26. Sherman F. Getting started with yeast. Methods Enzymol. 194:1991;3-21.
27. Kunkel T A, Roberts J D, Zakour R A. Rapid and efficient site-specific mutagenesis without phenotypic selection. Methods Enzymol. 154:1987;367-382.
28. Pearce D A, Sherman F. Differential ubiquitin-dependent degradation of the yeast apo-cytochrome c isozymes. J Biol Chem. 272:1997;31829-31836.
29. Hampsey M. A review of phenotypes inSaccharomyces cerevisiae. Yeast. 13:1997;1099-1133.
30. McKnight G L, Cardillo T S, Sherman F. An extensive deletion causing overproduction of yeast iso-2-cytochrome c. Cell. 25:1981;409-419.
31. Munroe P B, Mitchison H M, O'Rawe A M, Anderson J W, Boustany R-M, Lerner T J, Taschner P EM, de Vos N, Breuning M H, Gardiner R M, Mole S E. Spectrum of mutations in the Batten disease gene,CLN3. Am J Hum Genet. 61:1997;310-316.
32. Sherman F. Genetics and molecular biology of the yeast Saccharomyces cerevisiae. The Encyclopedia of Molecular Biology and Molecular Medicine. 1997;VCH, Weinheim. p. 302-325.
33. Chapman R E, Munro S. The functioning of the yeast Golgi apparatus requires an ER protein encoded byANP1, EMBO J. 13:1994;4896-4907.
34. Jungmann J, Munro S. Multi-protein complexes in thecisSaccharomyces cerevisiae. EMBO J. 17:1998;423-434.
35. Jones E W, Webb G C, Hiller M A. Biogenesis and function of the yeast vacuole. Pringle J R, Broach J R, Jones E W. The Molecular and Cellular Biology of the YeastSaccharomyces cerevisiae: 1997;363-470 Cold Spring Harbor Laboratory Press, Plainview.