2 Cellular pathology and pathogenic aspects of neuronal ceroid lipofuscinoses

Advances in Genetics

Volumn 45, Issue , 2001, Pages 35-68

  Kida, Elizabeth ^a   Golabek, Adam A ^a   Wisniewski, Krystyna E ^a  

^a NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LEUKOCYTE ANTIGEN; LYSOSOME ASSOCIATED MEMBRANE PROTEIN; MEMBRANE PROTEIN; PALMITOYL PROTEIN THIOESTERASE; PALMITOYL-PROTEIN THIOESTERASE; PROTEINASE; THIOL ESTER HYDROLASE; TRIPEPTIDYL PEPTIDASE I; TRIPEPTIDYL-PEPTIDASE I;

ADOLESCENT; ADULT; ANIMAL; CHILD; GENETICS; HUMAN; INFANT; NEURONAL CEROID LIPOFUSCINOSIS; NEWBORN; PATHOLOGY; PRESCHOOL CHILD; REVIEW;

ADOLESCENT; ADULT; ANIMALS; ANTIGENS, CD; CHILD; CHILD, PRESCHOOL; ENDOPEPTIDASES; HUMANS; INFANT; INFANT, NEWBORN; LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEINS; MEMBRANE GLYCOPROTEINS; NEURONAL CEROID-LIPOFUSCINOSES; THIOLESTER HYDROLASES;

EID: 0035234733     PISSN: 00652660     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0065-2660(01)45003-6     Document Type: Article

References (154)

1. 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
2. Beers M.F. Inhibition of cellular processing of surfactant protein C by drugs affecting intra-cellular pH gradients J. Biol. Chem. 71 1996 14361 14370
3. Berkovic S.F. Carpenter S. Andermann F. Andermann E. Wolfe L.S. Kufs' disease: A critical reappraisal Brain 111 1988 27 62
4. Bizzozero O.A. The mechanism and functional roles of protein palmitoylation in the nervous system Neuropediatrics 28 1997 23 26
5. Braak H. Goebel H.H. Pigmentoarchitectonic pathology of the isocortex in juvenile neuronal ceroid lipofuscinosis: Axonal enlargement in layer IIIab and cell loss in layer V Acta Neuropathol. (Berl.) 46 1979 79 83
6. Braulke T. Geuze H.J. Slot J.W. Hasilik A. von Figura K. On the effects of weak bases and monensin on sorting and processing of lysosomal enzymes in human cells Eur. J. Cell. Biol. 43 1987 316 321
7. Broom M.F. Zhou C. Broom J.E. Barwell K.J. Jolly R.D. Hill D.F. The locus for ovine ceroid lipofuscinosis is syntenic to the human Batten disease variant CLN6 J. Med. Genet. 35 1998 717 721
8. Bru¨ck W. Goebel H.H. Microglia activation in neuronal ceroid-lipofuscinosis Clin. Neuropathol. 5 1998 276
9. Butor C. Griffiths G. Aronson N.N. Varki A. Colocalization of hydrolytic enzymes with widely disparate pH optima: Implications for the regulation of lysosomal pH J. Cell Sci. 108 1995 2213 2219
10. Buzy A. Ryan E.M. Jennings K.R. Palmer D.N. Griffiths D.E. Use of electrospray ionization mass spectrometry and tandem mass spectrometry to study binding of F0 inhibitors to ceroid lipofuscinosis protein, a model system for subunit c of mitochondrial ATP synthase Rapid Commun. Mass Spectrom. 10 1996 790 796
11. Camp L.A. Hofmann S.L. Purification and properties of a palmitoyl-protein thioesterase that cleaves palmitate from H-ras J. Biol. Chem. 268 1993 22566 22574
12. Camp L.A. Verkruyse L.A. Afendis S.J. Slaughter C.A. Hofmann S.L. Molecular cloning and expression of palmitoyl-protein thioesterase J. Biol. Chem. 269 1994 23212 23219
13. Chang M.H. Bindloss C.A. Grabowski G.A. Qi X. Winchester B. Hopwood J.J. Meikle P.J. Saposins A, B, C, and D in plasma of patients with lysosomal storage disorders Clin. Chem. 46 2000 167 174
14. Christomanou H. Chabas A. Pampols T. Guardiola A. Activator protein deficient Gaucher's disease Klin. Wochenschr. 67 1989 999 1003
15. Croopnick J.B. Choi H.C. Muller D.M. The subcellular location of the yeast Saccharomyces cerevisiae homologue of the protein defective in juvenile form of Batten disease Biochem. Biophys. Res. Commun. 250 1998 335 341
16. Das A.S. Becerra C.H.R. Yi W. Lu J-Y. Siakotos A.N. Wisniewski K.E. Hofman S.L. Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S J. Clin. Invest. 102 1998 361 370
17. Das A.M. Jolly R.D. Kohlschu¨ter A. Anomalies of mitochondrial ATP synthase regulation in four different types of neuronal ceroid lipofuscinosis Mol. Genet. Metab. 66 1999 349 355
18. Dawson G. Cho S. Siakotos A.N. Kilkus J. Low molecular weight storage material in infantile ceroid lipofuscinosis (CLN1) Neuropediatrics 28 1997 31 32
19. Doebber T.W. Divor A.R. Ellis S. Identification of a tripeptidyl aminopeptidase in the anterior pituitary gland: Effect on the chemical and biological properties of rat and bovine growth hormones Endocrinology 103 1978 1794 1804
20. Dunphy J.T. Linder M.E. Signalling functions of protein palmitoylation Biochim. Biophys. Acta. 1436 1998 245 261
21. Dyer M.R. Walker J.E. Sequences of members of the human gene family for the c subunit of mitochondrial ATP synthase Biochem. J. 293 1993 51 64
22. Elleder M. Tyynela¨ J. Incidence of neuronal perikaryal spheroids in neuronal ceroid lipofuscinoses (Batten disease) Clin. Neuropathol. 17 1998 184 189
23. Elleder M. Drahota Z. Lisa V. Mares V. Mandys V. Muller J. Palmer D.N. Tissue culture loading test with storage granules from animal models of neuronal ceroid-lipofuscinosis (Batten disease): Testing their lysosomal degradability by normal and Batten disease Am. J. Med. Genet. 57 1995 213 221
24. 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
25. Ezaki J. Wolfe L.S. Higuti 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
26. Ezaki J. Wolfe L.S. Kominami E. Specific delay in the degradation of mitochondrial ATP synthase subunit c in the late infantile neuronal ceroid lipofuscinosis is derived from cellular proteolysis dysfunction rather than structural alterations of subunit c J. Neurochem. 67 1996 1677 1687
27. Ezaki J. Wolfe L.S. Kominami E. Decreased lysosomal subunit c-degrading activity in fibroblasts from patients with late infantile neuronal ceroid lipofuscinosis Neuropediatrics 28 1997 53 55
28. Ezaki J. Tanida I. Kanehagi N. Kominami E. A lysosomal proteinase, the late infantile neuronal ceroid lipofuscinosis gene (CLN2) product, is essential for degradation of a hydrophobic protein, the subunit c of ATP synthase J. Neurochem. 72 1999 2573 2582
29. Ezaki J. Takeda-Ezaki M. Oda K. Kominami E. Characterization of endopeptidase activity of tripeptidyl peptidase-I/CLN2 protein which is deficient in classical late infantile neuronal ceroid lipofuscinosis Biochem. Biophys. Res. Commun. 268 2000 904 908
30. Faust J. Rodman J. Daniels P. Dice J. Bronson R. 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
31. Fearnley I.M. Walker J.E. Martinus R.D. Jolly R.D. Kirkland K.B. Shaw G.J. Palmer D.N. 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
32. + transport and ATP synthesis in F1F0-ATP synthases: Glimpses of interacting parts in a dynamic molecular machine J. Exp. Biol. 200 1997 217 224
33. Forgac M. Structure, function and regulation of the vacuolar (H+)-ATPases FEBS Lett. 440 1998 258 263
34. Fukuda M. Biogenesis of the lysosomal membrane Subcell. Biochem. 22 1994 199 230
35. Goebel H.H. Braak H. Adult neuronal ceroid-lipofuscinosis Clinical Neuropathol. 8 1989 109 119
36. Goebel H.H. Zeman W. Patel V.K. Pullarkat R.K. Lenard H. On the ultrastructural diversity and essence of residual bodies in neuronal ceroid-lipofuscinosis Mech. Ageing Dev. 10 1979 70 73
37. Golabek A.A. Kaczmarski W. Kida E. Kaczmarski A. Michalewski M. Wisniewski K.E. Expression studies of CLN3 protein associated with a juvenile form of neuronal ceroid lipofuscinosis in mammalian cells Mol. Genet. Metab. 66 1999 277 282
38. Golabek A.A. Kida E. Walus M. Kaczmarski W. Michalewski M. Wisniewski K.E. CLN3 protein regulates lysosomal pH and alters intracellular processing of Alzheimer's amyloid-β-protein precursor and cathepsin D in human cells Mol. Genet. Metab. 70 2000 203 213
39. Haltia M.J. Rapola P. Santavuori P.J. Infantile type of so-called neuronal ceroid-lipofuscinosis. Histological and electron microscopic studies Acta Neuropathol. (Berl.) 26 1973 157 170
40. Haltia M. Tyynela¨ J. Hirvasniemi A. Herva R. Ranta U.S. Lehesjoki A.-E. CLN8. Northern epilepsy Goebel H.H. The Neuronal Ceroid Lipofuscinoses (Batten Disease) 1999 IOS Press Amsterdam, The Netherlands 117 124
41. 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
42. Hall N.A. Lake B.D. Patrick A.D. Recent biochemical and genetic advances in our understanding of Batten's disease (ceroid-lipofuscinosis) Dev. Neurosci. 13 1991 339 344
43. Hellsten E. Vesa J. Olkkonen V.W. Jalanko A. Peltonen L. Human palmitoyl protein thioesterase: Evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis EMBO J. 15 1996 5240 5245
44. Hiesberger T. Huttler S. Rohlmann A. Schneider W. Sandhoff K. Herz J. Cellular uptake of saposin (SAP) precursor and lysosomal delivery by the low density lipoprotein receptor-related protein (LRP) EMBO J. 17 1998 4617 4625
45. Hiraiwa M. Martin B.M. Kishimoto Y. Conner G. Tsuji S. O'Brien J.S. Lysosomal proteolysis of prosaposin, the precursor of saposins (sphingolipid activator proteins): Its mechanism and inhibition by ganglioside Arch. Biochem. Biophys. 341 1997 17 24
46. Hofmann S.L. Lee L.A. Lu J-Y. Verkruyse L.A. Palmitoyl-protein thioesterase and the molecular pathogenesis of the infantile neuronal ceroid lipofuscinosis Neuropediatrics 28 1997 27 30
47. Holtschmidt H. Sandhoff K. Kwon H.Y. Harzer K. Nakano T. Suzuki K. Sulfatide activator protein: Alternative splicing generates three messages RNAs and a newly found mutation responsible for a clinical disease J. Biol. Chem. 266 1991 7556 7560
48. Hughes S.M. Kay G.W. Jordan T.W. Rickards G.K. Palmer D.N. Disease-specific pathology in neurons cultured from sheep affected with ceroid lipofuscinosis Mol. Genet. Metab. 66 1999 381 386
49. Hunziker W. Geuze H.J. Intracellular trafficking of lysosomal membrane protein BioEssays 18 1996 379 389
50. Inui K. Wenger D.A. Concentration of activator protein for sphingolipid hydrolysis in liver and brain samples from patients with lysosomal storage disorders J. Clin. Invest. 72 1983 1622 1628
51. Inui K. Kao F.T. Fujibayashi S. Jones C. Morse H.G. Law M.L. Wenger D.A. The gene coding for sphingolipid activator protein, SAP-1, is on human chromosome 10 Hum. Genet. 69 1985 197 200
52. The International Batten Disease Consortium Isolation of a novel gene underlying Batten disease, CLN3 Cell 82 1995 949 957
53. Isosomppi J. Heinonen O. Hiltunene J.O. Greene N.D.E. Vesa J. Uusitalo A. Mitchison H.M. Saarma M. Jalanko A. Peltonen L. Developmental expression of palmitoyl protein thioesterase in normal mice Dev. Brain Res. 118 1999 1 11
54. Janes R.W. Munroe P.B. Mitchison H.M. Gardiner R.M. Mole S.E. Wallace B.A. A model for Batten disease protein CLN3: Functional implications from homology and mutations FEBS Lett. 399 1996 75 77
55. Ja¨rvela¨ I. Sainio M. Rantamaki T. Olkkonen V.M. Carpen O. Peltonen L. Jalanko A. Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease Hum. Mol. Genet. 7 1998 85 90
56. Ja¨rvela¨ I. Lehtovirta M. Tikkanen R. Kyta¨la¨ A. Jalanko A. Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL) Hum. Mol. Genet. 8 1999 1091 1098
57. Junaid M.A. Sklower Brooks S. Wisniewski K.E. Pullarkat R.K. A novel assay for lysosomal pepstatin-insensitive proteinase and its application for the diagnosis of late-infantile neuronal ceroid lipofuscinosis Clin. Chim. Acta 281 1999 169 176
58. Junaid M.A. Wu G. Pullarkat R.K. Purification and characterization of bovine brain lysosomal pepstatin-insensitive proteinase, the gene product deficient in the human late-infantile neuronal ceroid lipofuscinosis J. Neurochem. 74 2000 287 294
59. Kaczmarski W. Wisniewski K.E. Golabek A.A. Kaczmarski A. Kida E. Michalewski M. Studies of membrane association of CLN3 protein Mol. Genet. Metab. 66 1999 261 264
60. Katz M.L. Gao C-L. Prabhakaram M. Shibuya H. Liu P-C. Johnson G.S. Immunochemical localization of the Batten disease (CLN3) protein in retina Invest. Ophthalmol. Vis. Sci. 38 1997 2375 2386
61. Katz M.L. Shibuya H. Liu P.C. Kaur S. Gao C.L. Johnson G.S. A mouse gene knockout model for juvenile ceroid-lipofuscinosis (Batten disease) J. Neurosci. Res. 57 1999 551 556
62. Kay G.W. Hughes S.M. Palmer D.N. In vitro culture of neurons from sheep with Batten disease Mol. Genet. Metab. 67 1999 83 88
63. Kida E. Wisniewski K.E. Golabek A.A. Increased expression of subunit c of mitochondrial ATP synthase in brain tissue from neuronal ceroid lipofuscinoses and mucopolysaccharidosis cases but not in long-term fibroblast culture Neurosci. Lett. 164 1993 121 124
64. Kida E. Wisniewski K.E. Connell F. Topographic variabilities of immunoreactivity to subunit c of mitochondrial ATP synthase and lectin binding in late infantile neuronal ceroid lipofuscinosis Am. J. Med. Genet. 57 1995 182 186
65. Kida E. Kaczmarski W. Golabek A.A. Kaczmarski A. Michalewski M. Wisniewski K.E. Analysis of intracellular distribution and trafficking of the CLN3 protein in fusion with the green fluorescent protein. in vitro Mol. Genet. Metab. 66 1999 265 271
66. Kieseier B.C. Wisniewski K.E. Park E. Schuller-Levis G. Mehta P.D. Goebel H.H. Leukocytes in neuronal ceroid-lipofuscinosis: Function and apoptosis Brain & Develop. 19 1997 317 322
67. Kitaguchi T. Wisniewski K.E. Maslinski S. Maslinska D. Wisniewski T.M. Kim K.S. β-Protein immunoreactivity in brains of patients with neuronal ceroid lipofuscinosis: Ultrastructural and biochemical demonstration Neurosci Lett. 112 1990 155 160
68. Klausner R.D. Sitia R. Protein degradation in the endoplasmic reticulum Cell 62 1990 611 614
69. 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) Biochem. J. 111 1992 278 282
70. Kremmidiotis G. Lensink I.L. Bilton R.L. Woollatt E. Chataway T.K. Sutherland G.R. Callen D.F. The Batten disease gene product (CLN3p) is a Golgi integral membrane protein Hum. Mol. Genet. 8 1999 523 531
71. Lake B.D. Rowan S.A. Light and electron microscopic studies on subunit c in cultured fibroblasts in late infantile and juvenile Batten disease Neuropediatrics 28 1997 56 59
72. Lane S.C. Jolly R.D. Schmechel D.E. Alroy J. Boustany R.M. Apoptosis as the mechanism of neurodegeneration in Batten's disease J. Neurochem. 67 1996 677 683
73. Lauronen L. Munroe P.B. Ja¨rvela¨ I. Autti T. Mitchison H.M. O'Rawe A.M. Gardiner R.M. Mole S.E. Puranen J. Hakkinen A.M. Santavuori P. Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis Neurology 52 1999 360 365
74. Leonova T. Qi X. Bencosme A. Ponce E. Sun Y. Grabowski G.A. Proteolytic processing of prosaposin in insect and mammalian cells J. Biol. Chem. 271 1996 17312 17320
75. Lu J-Y. Verkruyse L.A. Hofmann S.L. Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: Correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase Proc. Natl. Acad. Sci. (USA) 93 1996 10046 10050
76. Marks M.S. Woodruff L. Ohno H. Bonifacino J.S. Protein targeting by tyrosine- and di-leucine-based signals: Evidence for distinct saturable components J. Cell Biol. 135 1996 341 354
77. Martin J.-J. Libert J. Ceuterick C. Ultrastructure of brain and retina in Kufs' disease (Adult type of ceroid-lipofuscinosis) Clin. Neuropathol. 6 1987 381 394
78. Martin J.-J. Gottlob I. Goebel H.H. Mole S.E. CLN4. Adult NCL Goebel H.H. The Neuronal Ceroid Lipofuscinoses (Batten Disease) 1999 IOS Press Amsterdam, The Netherlands 77 90
79. Mason R.W. Lloyd Mason Subcellular Biochemistry Biology of the Liposome vol. 27 1996 Plenum Press New York 159 190
80. McGeoch J.E. Guidotti G. A 0. 7–700 Hz current through a voltage-clamped pore: Candidate protein for initiator of neural oscillations Brain Res. 766 1997 188 194
81. McGeoch J.E.M. Palmer D.N. Ion pores made of mitochondrial ATP synthase subunit c in the neuronal plasma membrane and Batten disease Mol. Genet. Metab. 66 1999 387 392
82. Michalewski M. Kaczmarski W. Golabek A.A. Kida E. Kaczmarski A. Wisniewski K.E. Evidence for phosphorylation of CLN3 protein associated with Batten disease Biochem. Biophys. Res. Commun. 253 1998 458 462
83. Mitchison H.M. Hofmann S.L. Becerra C.H.R. Munroe P.B. Lake B.D. Crow Y.J. Stephenson J.B. Williams R.E. Hofman I.L. Taschner P.E.M. Martin J.J. Philippart M. Andermann E. Andermann F. Mole S. Gardiner R.M. O'Rawe A.M. Mutations in palmitoyl-protein thioesterase gene (PPT1; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits Hum. Mol. Genet. 7 1998 291 297
84. Mitchison H.M. Bernard D.J. Greene N.D. Cooper J.D. Junaid M.A. Pullarkat R.K. de Vos N. Breuning M.H. Owens J.E.W. Mobley W.C. Gardiner R.M. Lake B.D. Taschner P.E. Nussbaum R.L. Targeted disruption of the CLN3 gene provides a mouse model for Batten disease Neurobiol. Dis. 6 1999 321 334
85. Medd S.M. Walker J.E. Jolly R.D. Characterization of the expressed genes for subunit c of mitochondrial ATP synthase in sheep with ceroid lipofuscinosis Biochem. J. 293 1993 65 73
86. Mole S.E. Mitchison H.M. Munroe P.B. Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5 Hum. Mutat. 14 1999 199 215
87. Munroe P.B. Mitchison H.M. O'Rawe A.M. Anderson J.W. Boustany R-M. Lerner T.J. Taschner P.E.M. 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. 6 1997 1310 3160
88. Ng Ying Kin N.M.K. Palo J. Haltia M. Wolfe L.S. High levels of brain dolichols in neuronal ceroid-lipofuscinosis and senescence J. Neurochem. 40 1983 1465 1473
89. O'Brien J.S. Kishimoto Y. Saposin proteins: Structure, function, and role in human lysosomal storage disorders FASEB J. 5 1991 301 308
90. O'Brien J.S. Carson G.S. Seo H.C. Hiraiwa M. Kishimoto Y. Identification of prosaposin as a neurotrophic factor Proc. Natl. Acad. Sci. (USA) 91 1994 9593 9596
91. Oka A. Kurachi Y. Mizuguchi M. Hayashi M. Takashima S. The expression of late infantile neuronal ceroid lipofuscinosis (CLN2) gene product in human brain Neurosci. Lett. 257 1998 113 115
92. Page A.E. Fuller K. Chambers T.J. Warburton M.J. Purification and characterization of a tripeptidyl peptidase from human osteoclastomas: evidence for its role in bone resorption Arch. Biochem. Biophys. 306 1993 354 359
93. Palmer D.N. Martinus R.D. Cooper S.M. Midwinter G.G. Reid J.C. Jolly R.D. Ovine ceroid lipofuscinosis. The major lipopigment protein and the lipid-binding subunit of mitochondrial ATP synthase have the same NH2-terminal sequence J. Biol. Chem. 264 1989 5736 5740
94. 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's disease) Am. J. Med. Genet. 42 1992 561 567
95. Palmer D.N. Bayliss S.L. Clifton P.A. Grant V.J. 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. Inherit. Metab. Dis. 16 1993 292 295
96. Palmer D.N. Jolly R.D. van Mil H.C. Tyynela¨ J. Westlake V.J. Different pattern of hydrophobic protein storage in different forms of neuronal ceroid lipofuscinosis (NCL, Batten disease) Neuropediatrics 28 1997 45 48
97. Palmer D.N. Tyynela¨ J. van Mil H.C. Westlake V.J. Jolly R.D. Accumulation of sphingolipid activator proteins (SAPs) A and D in granular osmiophilic deposits in miniature Schnauzer dogs with ceroid-lipofuscinosis J. Inher. Metab. Dis. 20 1997 74 84
98. Pardo C.A. Rabin B.A. Palmer D.N. Price D.L. Accumulation of the adenosine triphosphate synthase subunit c in the mnd mutant mouse: A model for neuronal ceroid lipofuscinosis Am. J. Pathol. 144 1994 829 835
99. Pearce D.A. Sherman F. A yeast model for the study of Batten disease Proc. Natl Acad. Sci. (USA) 95 1998 6915 6918
100. Pearce D.A. Ferea T. Nosel S.A. Das B. Sherman F. Action of BTN1, the yeast orthologue of the gene mutated in Batten disease Nat. Gen. 22 1999 55 58
101. Pearce D.A. Carr C.J. Das B. Sherman F. Phenotypic reversal of the btn1 defects in yeast by chloroquine: A yeast model for Batten disease Proc. Natl. Acad. Sci. (USA) 96 1999 11341 11345
102. Poorthuis B.J.H.M. Wevers R.A. Kleijer W.J. Groener J.E.M. de Jong J.G.N. van Weely S. Niezen-Koning K.E. van Diggelen O.P. The frequency of lysosomal storage diseases in The Netherlands Hum. Genet. 105 1999 151 156
103. Puranam K.L. Guo W-X. Qian W-H. Nikbakht K. Boustany R.M. CLN3 defines a novel antiapoptotic pathway operative in neurodegeneration and mediated by ceramide Mol. Genet. Metab. 66 1999 294 308
104. Qi X. Kondoh K. Krusling D. Kelso G.J. Leonova T. Grabowski G.A. Conformational and amino acid residue requirements for the saposin C neuritogenic effect Biochemistry 38 1999 6284 6291
105. Ranta S. Zhang Y. Ross B. Lonka L. Takkunen E. Messer A. Sharp J. Wheeler R. Kusumi K. Mole S. Liu W. Soares M.B. Bonaldo M.F. Hirvasniemi A. de la Chapelle A. Gilliam T.C. Lehesjoki A.E. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8 Nature 23 1999 233 236
106. Rawlings N.D. Barrett A.J. Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis Biochim. Biophys. Acta 1429 1999 496 500
107. Reitman M.L. Kornfeld S. UDP-N-acetylglucosamine:glycoprotein N-acetylglu-cosamine-1-phosphotransferase. Proposed enzyme for the phosphorylation of the high mannose oligosaccharide units of lysosomal enzymes J. Biol. Chem. 256 1981 4275 4281
108. Rohrer J. Schweizer A. Russell D. Kornfeld S. The targeting of lamp1 to lysosomes is dependent on the spacing of its cytoplasmic tail tyrosine sorting motif relative to the membrane J. Cell. Biol. 132 1996 565 576
109. Sandhoff K. Kolter T. van Echten-Deckert G. Sphingolipid metabolism. Sphingolipid analogs, sphingolipid activator proteins, and the pathology of the cell Ann. N.Y. Acad. Sci. 845 1995 139 151
110. 475-Ile(Leu,Val,Ala)476, contained in the extended car☐yl cytoplasmic tail, are critical for targeting of the resident lysosomal membrane protein LIMP II to lysosomes J. Biol. Chem. 269 1994 6622 6631
111. Santavuori P. Rapola J. Haltia M. Tyynela¨ J. Peltonen L. Mole S.E. CLN5. Finnish variant late infantile NCL Goebel H.H. The Neuronal Ceroid Lipofuscinoses (Batten Disease) 1999 IOS Press Amsterdam, The Netherlands 91 101
112. Savukoski M. Kestila¨ M. Williams R. Ja¨rvela¨ I. Sharp J. Harris J. Santavuori P. Gardiner M. Peltonen L. Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinosis Am. J. Hum. Genet. 55 1994 695 701
113. Savukoski M. Klockars T. Holmberg V. Santavuori P. Lander E.S. Peltonen L. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finish variant late infantile neuronal ceroid lipofuscinosis Nat. Gen. 19 1998 286 288
114. Sharp J. Wheeler R.B. Lake B.D. Fox M. Gardiner R.M. Williams R.E. Genetic and physical mapping of the CLN6 gene on chromosome 15q21–23 Mol. Genet. Metab. 66 1999 329 331
115. Seitelberger F. Jacob H. Schnabel R. The myoclonic variant of cerebral lipidosis Aronson S.M. Volk B.W. Inborn Disorders of Sphingolipid Metabolism 1967 Pergamon Press Oxford 43 74
116. Sleat D.E. Sohar I. Lackland H. Majercak J. Lobel P. Rat brain contains high levels of mannose-6-phosphorylated glycoproteins including lysosomal enzymes and palmitoyl-proteinthioesterase, an enzyme implicated in infantile neuronal lipofuscinosis J. Biol. Chem. 271 1996 19191 19198
117. Sleat D.E. Donnelly R.J. Lackland H. Liu C-G. Sohar I. Pullarkat R.K. Lobel P. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis Science 277 1997 1802 1805
118. Sleat D.E. Sohar I. Pullarkat P.S. Lobel P. Pullarkat R.K. Specific alteration in levels of mannose 6-phosphorylated glycoproteins in different neuronal ceroid lipofuscinoses Biochem. J. 334 1998 547 551
119. Sleat D.E. Gin R.M. Sohar I. Wisniewski K.E. Sklower Brooks S. Pullarkat R.K. Palmer D.N. Lerner T.J. Boustany R.M. Uldall P. Siakotos A.N. Donnelly R.J. Lobel P. Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder Am. J. Hum. Genet. 64 1999 1511 1523
120. Sohar I. Sleat D.E. Jadot M. Lobel P. Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models J. Neurochem. 73 1999 700 711
121. Suopanki J. Tyynela¨ J. Baumann M. Haltia M. Palmitoyl-protein thioesterase, an enzyme implicated in neurodegeneration, is localized in neurons and is developmentally regulated in rat brain Neurosci. Lett. 265 1999 53 56
122. Tahvanainen E. Ranta S. Hirvasniemi A. Karila E. Leisti J. Sistonen P. Weissenbach J. Lehesjoki A.E. de la Chapelle A. The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8 Proc. Natl. Acad. Sci. (USA) 91 1994 7267 7270
123. Tanner A. Dice J.F. Batten disease fibroblasts in culture accumulate mitochondrial ATP synthase subunit 9 Cell Biol. Int. 19 1995 71 75
124. Tanner A. Shen B.H. Dice J.F. Turnover of F1F0-ATP synthase subunit 9 and other proteolipids in normal and Batten disease fibroblasts Biochim. Biophys. Acta 1361 1997 251 262
125. Town M. Jean G. Cherqui S. Attard M. Forestier L. Whitmore S.A. Callen D.F. Gribouval O. Broyer M. Bates G.P. vant Hoff W. Antignac C. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis Nat. Genet. 18 1998 319 324
126. Tsuboi K. Hiraiwa M. O'Brien J.S. Prosaposin prevents programmed cell death of rat cerebellar granule neurons in culture Brain Res. Dev. Brain Res. 110 1998 249 255
127. Tyynela¨ J. Palmer D.N. Baumann M. Haltia M. Storage of saposins A and D in infantile neuronal ceroid lipofuscinosis FEBS Lett. 330 1993 8 12
128. Tyynela¨ J. Baumann M. Henseler M. Sandhoff K. Haltia M. Sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses: An immunological study Acta Neuropathol. (Berl.) 89 1995 391 398
129. Tyynela¨ J. Suopanki J. Baumann M. Haltia M Sphingolipid activator proteins (SAPs) in neuronal ceroid lipofuscinoses (NCL) Neuropediatrics 28 1997 49 52
130. Tyynela¨ J. Suopanki J. Santavuori P. Baumann M. Haltia M. Variant late infantile neuronal ceroid-lipofuscinosis: pathology and biochemistry J. Neuropathol. Exp. Neurol. 56 1997 369 375
131. Vaccaro A.M. Salvioli R. Barca A. Tatti M. Ciaffoni F. Maras B. Siciliano R. Zappacosta F. Amoresano A. Pucci P. Structural analysis of saposin C and B: Complete localization of disulfide bridges J. Biol. Chem. 270 1995 9953 9960
132. Vaccaro A.M. Salvioli R. Tatti M. Ciaffoni F. Saposins and their interaction with lipids Neurochem. Res. 24 1999 307 314
133. Verheijen F.W. Verbeek E. Aula N. Beerens C.E.M.T. Havelaar A.C. Joosse M. Peltonen L. Aula P. Galjaard H. van der Spek P.J. Mancini G.M.S. A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases Nat. Genet. 23 2000 462 465
134. Verkruyse L.A. Hofmann S.L. Lysosomal targeting of palmitoyl-protein thioesterase J. Biol. Chem. 26 1996 15831 15836
135. Vesa J. Hellsten E. Verkruyse L.A. Camp L.A. Rapola J. Santavuori P. Hofmann S.L. Peltonen L. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis Nature 376 1995 584 587
136. Vines D. Warburton N.J. Purification and characterization of a tripeptidyl aminopeptidase I from rat spleen Biochim. Biophys. Acta 1384 1998 233 242
137. Vines D. Warburton N.J. Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I FEBS Lett. 443 1999 131 135
138. von Heijne G. Gavel Y. Topogenic signals in integral membrane proteins Eur. J. Biochem. 174 1988 671 678
139. Waliany S. Das A.K. Gaben A. Wisniewski K.E. Hofmann S.L. Identification of three novel mutations of the palmitoyl-protein thioesterase (PPT) gene in children with neuronal ceroid-lipofuscinosis Hum. Mutat. 2 2000 206 207
140. Williams R.E. Lake B.D. Elleder M. Sharp J.D. CLN6. Variant late infantile/early juvenile NCL Goebel H.H. The Neuronal Ceroid Lipofuscinoses (Batten Disease) 1999 IOS Press Amsterdam, The Netherlands 102 114
141. Williams R.E. TopHu M. Lake B.D. Mitchell W. Mole S.E. CLN7. Turkish variant late infantile NCL Goebel H.H. The Neuronal Ceroid Lipofuscinoses (Batten Disease) 1999 IOS Press Amsterdam, The Netherlands 114 115
142. Wimer Mackin S. Granger B.L. Transmembrane domain mutations influence the cellular distribution of lysosomal membrane glycoprotein A Biochem. Biophys. Res. Commun. 229 1996 472 478
143. Wisniewski K.E. Maslinska D. Kitaguchi T. Kim K.S. Goebel H.H. Haltia M. Topographic heterogeneity of amyloid-protein precursor epitopes in brains with various forms of neuronal ceroid lipofuscinoses suggesting defective processing of amyloid precursor protein Acta Neuropathol. 80 1990 26 30
144. Wisniewski K.E. Kida E. Gordon Majszak W. Saitoh T. Altered amyloid-protein precursor processing in brains of patients with neuronal ceroid lipofuscinosis Neurosci Lett. 120 1990 94 96
145. Wisniewski K.E. Kida E. Patxot O.F. Connell F. Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinosis: Review of data and observations Am. J. Med. Genet. 42 1992 525 532
146. Wisniewski K.E. Kida E. Connell F. Elleder M. Eviatar L. Konkol R.J. New subform of the late infantile form of neuronal ceroid lipofuscinosis Neuropediatrics 24 1993 155 163
147. Wisniewski K.E. Golabek A.A. Kida E. Increased urine concentration of subunit c of mitochondrial ATP synthase in neuronal ceroid lipofuscinoses patients J. Inherit. Metab. Dis. 17 1994 205 210
148. Wisniewski K.E. Kaczmarski W. Golabek A.A. Kida E. Rapid detection of subunit c of mitochondrial ATP synthase in urine as a diagnostic screening test for neuronal ceroid-lipofuscinosis Am. J. Med. Genet. 57 1995 246 249
149. Wisniewski K.E. Zhong N. Kaczmarski W. Kaczmarski A. Sklower-Brooks S. Brown W.T. Studies of atypical JNCL suggest overlapping with other NCL forms Pediatr. Neurol. 18 1998 36 40
150. Wisniewski K.E. Zhong N. Kaczmarski W. Kaczmarski A. Kida E. Schwarz K.O. Lazzarini A.M. Rubin A.J. Stenroos E.S. Johnson W.G. Wisniewski T.M. Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis Ann. Neurol. 42 1998 106 110
151. Wolfe L.S. Kin N.M. Baker R.R. Carpenter S. Andermann F. Identification of retinoyl complexes as the autofluorescent component of the neuronal storage material in Batten disease Science 195 1977 1360 1362
152. Yan W.L. Lerner T.J. Haines J.L. Gusella J.F. Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA (ATP5G3) Genomics 24 1994 375 377
153. Zeman W. Dyken P. Neuronal-ceroid lipofuscinosis (Batten's disesae): Relationship to amaurotic. idiocy? Pediatrics 44 1969 570 583
154. Zhong N. Wisniewski K.E. Kaczmarski A. Ju W. Xu W. McLendon L. Liu B. Kaczmarski W. Sklower Brooks S. Brown W.T. Molecular screening of Batten disease: Identification of a missense mutation (E295K) in the CLN3 gene Hum. Genet. 102 1998 57 62