-
1
-
-
0027989872
-
Molecular cloning and expression of palmitoyl-protein thioesterase
-
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
-
(1994)
J Biol. Chem
, vol.269
, pp. 23212-23219
-
-
Camp, L.1
Verkruyse, L.2
Afendis, S.3
Slaughter, C.4
Hofmann, S.5
-
2
-
-
0028341126
-
Two related proteolipids and dolichol-linked oligosaccharides accumulate in motor neuron degeneration mice (mnd/mnd). a model for neuronal ceroid-lipofuscinosis
-
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
-
(1994)
J. Biol. Chem
, vol.269
, pp. 10150-10155
-
-
Faust, J.1
Rodman, J.2
Daniels, P.3
Dice, J.4
Bronson, R.5
-
3
-
-
0025290956
-
The sequence of the major protein stored in ovine ceroid lipofuscinosis is identical with that of the dicyclohexylcarbodiimide-reactive proteolipid of mitochondrial ATP synthase
-
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
-
(1990)
Biochem J.
, vol.268
, pp. 751-758
-
-
Fearnley, I.1
Walker, J.2
Martinus, R.3
Jolly, R.4
Kirkland, K.5
Shaw, G.6
Palmer, D.7
-
4
-
-
0018277513
-
The activator of cerebroside-sulphatase a model of the activation
-
Fisher, G., H. Jatzkewitz' The activator of cerebroside-sulphatase a model of the activation Biochem. Biophys. Acta 528 (1978) 69-76
-
(1978)
Biochem. Biophys. Acta
, vol.528
, pp. 69-76
-
-
Fisher, G.1
Jatzkewitz', H.2
-
5
-
-
0026747197
-
Sandhoff Activator proteins and topology of lysosomal sphingolipid catabolism
-
Furst, W, K. Sandhoff Activator proteins and topology of lysosomal sphingolipid catabolism. Biochem Biophys Acta 1126 (1992) 1-16
-
(1992)
Biochem Biophys Acta
, vol.1126
, pp. 1-16
-
-
Furst, W.K.1
-
6
-
-
0029018111
-
Pigment variant of neuronal ceroid-lipofuscinosis
-
Goebel, H., F. Gullotta, T. Bajanowski, F. Hansen, H. Braak. Pigment variant of neuronal ceroid-lipofuscinosis. Am. J. Med. Genet. 57 (1995) 155-159
-
(1995)
Am. J. Med. Genet.
, vol.57
, pp. 155-159
-
-
Goebel, H.1
Gullotta, F.2
Bajanowski, T.3
Hansen, F.4
Braak, H.5
-
7
-
-
0025854327
-
Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten's disease (ceroid-lipofuscinosis)
-
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
-
(1991)
Biochem. J
, vol.275
, pp. 269-272
-
-
Hall, N.1
Lake, B.2
Dewji, N.3
Patrick, A.4
-
8
-
-
0015596171
-
Infantile type of so-called neuronal ceroid-lipofuscinosis. Part II. Morphological and biochemical studies
-
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
-
(1973)
J. Neurol. Sci.
, vol.18
, pp. 269-285
-
-
Haltia, M.1
Rapola, J.2
Santavuori, P.3
Keranen, A.4
-
9
-
-
0029583483
-
Immunological studies on sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses
-
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
-
(1995)
Gerontology
, vol.41
, Issue.2 SUPPL.
, pp. 239-248
-
-
Haltia, M.1
Tyynelä, J.2
Banmann, M.3
Henseler, M.4
Sandhoff, K.5
-
10
-
-
0029843717
-
Palmitoyl protein thioesterase: Evidence for lysosomal targetting of the enzyme and disturbed cellular processing in infantile neuronal ceroid-lipofuscinosis
-
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
-
(1996)
E.M.B.O.J.
, vol.15
, pp. 5240-5245
-
-
Hellsten, E.1
Vesa, J.2
Olkkonen, V.3
Jalanko, A.4
Peltonen, L.5
-
11
-
-
0025728991
-
Secretion of sphingolipid hydrolase activator precursor, prosaposm
-
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
-
(1991)
Biochem. Biophys. Res Commun.
, vol.176
, pp. 668-674
-
-
Hineno, T.1
Sana, A.2
Kondoh, K.3
Ueno, S.4
Kakomoto, Y.5
Yoshida, K.6
-
12
-
-
0015548018
-
Glucocerebrosidase: Reconstitution of activity from macromolecular components
-
Ho, M., J O'Brien, N. Radin, J Ericson: Glucocerebrosidase: Reconstitution of activity from macromolecular components. Biochem. J. 131 (1973) 173-176
-
(1973)
Biochem. J.
, vol.131
, pp. 173-176
-
-
Ho, M.1
O'Brien, J.2
Radin, N.3
Ericson, J.4
-
13
-
-
0030739514
-
Palmitoyl-protein thioesterase and the molecular pathogenesis of infantile neuronal ceroid-lipofuscinosis
-
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
-
(1997)
Neuropediatrics
, vol.28
, pp. 27-30
-
-
Hofmann, S.1
Lee, L.A.2
Lu, J.-Y.3
Verkruyse, L.A.4
-
14
-
-
0025743034
-
Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease
-
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
-
(1991)
J. Biol Chem.
, vol.266
, pp. 7556-7560
-
-
Holtschmidt, H.1
Sandhoff, K.2
Kwon, H.3
Harzer, K.4
Nakano, T.5
Suzuki, K.6
-
15
-
-
0027302564
-
An animal model of the infantile neuronal ceroid-lipofuscinosis
-
Järplid, B., M. Haltia: An animal model of the infantile neuronal ceroid-lipofuscinosis. J. Inher Metab. Dis. 16 (1993) 274-277
-
(1993)
J. Inher Metab. Dis.
, vol.16
, pp. 274-277
-
-
Järplid, B.1
Haltia, M.2
-
16
-
-
84986799878
-
Canine ceroid-lipofuscinoses: A review and classification
-
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
-
(1994)
J Small Anim. Pract.
, vol.30
, pp. 299-306
-
-
Jolly, R.1
Palmer, D.2
Studdert, V.3
Sutton, R.4
Kelly, W.5
Koppang, N.6
Dahme, G.7
Hartleys, W.8
Patterson, J.9
Riis, R.10
-
17
-
-
0026768211
-
Saposins: Structure, function, distribution, and molecular genetics
-
Kishimoto, Y., M Hiraiwa, J. O'Brien: Saposins: structure, function, distribution, and molecular genetics. J. Lipid Res 33 (1992) 1255-1267
-
(1992)
J. Lipid Res
, vol.33
, pp. 1255-1267
-
-
Kishimoto, Y.1
Hiraiwa, M.2
O'Brien, J.3
-
18
-
-
0028275240
-
Sphingolipid activator protein D (sap-D) stimulates the lysosomal degradation of ceramide in vivo
-
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
-
(1994)
Biochem. Biophys. Res. Commun.
, vol.200
, pp. 1440-1448
-
-
Klein, A.1
Henseler, M.2
Klein, C.3
Suzuki, K.4
Harzer, K.5
Sandhoff, K.6
-
19
-
-
0001334447
-
Morphological and histochemical studies of neurolipidosis by light and electron microscopy
-
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
-
(1964)
J. Neuropathol. Exp. Neurol
, vol.23
, pp. 191-193
-
-
Koenig, H.1
McDonald, T.2
Nellhaus, G.3
-
20
-
-
0025321793
-
Characterization of a mutation in a family with saposin B deficiency: A glycosylation site defect
-
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
-
(1990)
Proc. Natl. Acad. Sci. USA
, vol.87
, pp. 2541-2544
-
-
Kretz, K.1
Carson, G.2
Morimoto, S.3
Kishimoto, Y.4
Fluharty, A.5
O'Brien, J.6
-
21
-
-
0025983474
-
Bovine ceroid-lipofuscinosis (Batten's disease) the major component stored is the DCCD-reactive proteolipid, subunit c, of mitochondrial ATP synthase
-
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
-
(1991)
Vet. Res. Commun.
, vol.15
, pp. 85-94
-
-
Martinus, R.1
Harper, P.2
Jolly, R.3
Bayliss, S.4
Midwinter, G.5
Shaw, G.6
Palmer, D.7
-
22
-
-
0024297787
-
Coding of two sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus
-
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
-
(1988)
Science
, vol.241
, pp. 1098-1101
-
-
O'Brien, J.1
Kreiz, K.2
Dewji, N.3
Wenger, D.4
Esch, F.5
Fluharty, A.6
-
23
-
-
0028136476
-
Identification of prosaposin as a neurotrophic factor
-
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
-
(1994)
Proc. Natl. Acad. Sci USA
, vol.91
, pp. 9593-9596
-
-
O'Brien, J.1
Carson, G.2
Seo, H.-C.3
Hiraiwa, M.4
Kishimoto, Y.5
-
24
-
-
0023038776
-
Ceroid lipofuscinosis in sheep II. The major component of the lipopigment in liver, kidney, pancreas, and brain is low molecular weight protein
-
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
-
(1986)
J Biol Chem.
, vol.261
, pp. 1773-1777
-
-
Palmer, D.1
Barns, G.2
Husbands, D.3
Jolly, R.4
-
25
-
-
0024511783
-
Ovine ceroid lipofuscinosis. The major lipopigment protein and the lipid-binding subunit of mitochondrial ATP synthase have the same N-terminal sequence
-
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
-
(1989)
J. Biol. Chem.
, vol.264
, pp. 5736-5740
-
-
Palmer, D.1
Martinus, R.2
Cooper, S.3
Midwinter, G.4
Reid, J.5
Jolly, R.6
-
26
-
-
0026539541
-
Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease)
-
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
-
(1992)
Am. J. Med. Genet.
, vol.42
, pp. 561-567
-
-
Palmer, D.1
Fearnley, J.2
Walker, J.3
Hall, N.4
Lake, B.5
Wolfe, L.6
Haltia, M.7
Martinus, R.8
Jolly, R.9
-
27
-
-
0030845481
-
Different patterns of hydrophobic protein storage in different forms of neuronal ceroid lipofuscinosis (NCL, Batten disease)
-
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
-
(1997)
Neuropediatrics
, vol.28
, pp. 45-48
-
-
Palmer, D.N.1
Jolly, R.D.2
Van Mil, H.C.3
Tyynelä, J.4
Westlake, V.J.5
-
28
-
-
8544224041
-
Accumulation of sphingolipid activator proteins (SAPs) A and D in granular osmiophilic deposits in miniature schnauzer dogs with ceroid-lipofuscinosis
-
in press
-
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)
-
J. Inher. Metab. Dis
-
-
Palmer, D.N.1
Tyynelä, J.2
Van Mil, H.C.3
Westlake, V.J.4
Jolly, R.5
-
29
-
-
0029864731
-
Functional organization of saposin C. Definition of the neurotrophic and acid β-glucosidase activation regions
-
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
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 6874-6880
-
-
Qi, X.1
Qin, W.2
Sun, Y.3
Kondoh, K.4
Grabowski, G.5
-
30
-
-
0024791636
-
Sphingolipid hydrolase activator protein and their precursors
-
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
-
(1989)
Biochem. Biophys Res. Commun.
, vol.165
, pp. 1191-1197
-
-
Sano, A.1
Hineno, T.2
Mizuno, T.3
Kondoh, K.4
Ueno, S.5
Kakimoto, Y.6
Inui, K.7
-
31
-
-
0025762364
-
Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease
-
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
-
(1991)
FEBS Lett.
, vol.284
, pp. 57-59
-
-
Schnabel, D.1
Schröder, M.2
Sandhoff, K.3
-
32
-
-
0013650617
-
Murine prosaposin: Expression in the reproductive system of a gene implicated in human genetic diseases
-
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
-
(1993)
Cell. Mol. Biol.
, vol.39
, pp. 287-299
-
-
Sprecher-Levy, H.1
Orr-Urtreger, A.2
Lona, P.3
Horowitz, M.4
-
33
-
-
0028020352
-
Developmental and tissue-specific expression of prosaposin in mRNA in murine tissues
-
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
-
(1994)
Am. J. Pathol.
, vol.145
, pp. 1390-1398
-
-
Sun, Y.1
Witte, D.2
Grabowski, G.3
-
34
-
-
0023161242
-
Enzymatic diagnosis of sphingolipidoses
-
Suzuki, K.: Enzymatic diagnosis of sphingolipidoses. Methods Enzymol. 138 (1987) 727-762
-
(1987)
Methods Enzymol.
, vol.138
, pp. 727-762
-
-
Suzuki, K.1
-
35
-
-
0027224115
-
Storage of saposins A and D in infantile neuronal ceroid-lipofuscinosis
-
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
-
(1993)
FEBS Lett.
, vol.330
, pp. 8-12
-
-
Tyynelä, J.1
Palmer, D.2
Baumann, M.3
Haltia, M.4
-
36
-
-
0029013145
-
Sphingolipid activator proteins (SAPs) are stored together with glycosphingolipids in the infantile neuronal ceroid-lipofuscinosis (INCL)
-
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
-
(1995)
Am. J. Med. Genet.
, vol.57
, pp. 294-297
-
-
Tyynelä, J.1
Baumann, M.2
Henseler, M.3
Sandhoff, K.4
Haltia, M.5
-
37
-
-
0028970313
-
Sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses: An immunological study
-
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
-
(1995)
Acta Neuropathol.
, vol.89
, pp. 391-398
-
-
Tyynelä, J.1
Baumann, M.2
Henseler, M.3
Sandhoff, K.4
Haltia, M.5
-
38
-
-
85036485133
-
Variant late infantile neuronal ceroid lipofuscinosis: Pathology and Biochemistry
-
in press
-
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)
-
J. Neuropathol. Exp. Neurol.
-
-
Tyynelä, J.1
Suopanki, J.2
Santavuori, P.3
Baumann, M.4
Haltia, M.5
-
39
-
-
0029153109
-
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
-
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
-
(1995)
Nature
, vol.376
, pp. 584-587
-
-
Vesa, J.1
Hellsten, E.2
Verkruyse, L.3
Camp, L.4
Rapola, J.5
Santavuori, P.6
Hofmann, S.7
Peltonen, L.8
-
40
-
-
0024337991
-
MI activator protein deficiency
-
MI activator protein deficiency. Am. J. Med Genet 33 (1989) 255-265
-
(1989)
Am. J. Med Genet
, vol.33
, pp. 255-265
-
-
Wenger, D.1
DeGala, G.2
Williams, C.3
Taylor, H.4
Stevenson, R.5
Pruitt, J.6
Miller, J.7
Garen, P.8
Balentine, J.9
-
41
-
-
0014592170
-
Neuronal ceroid-lipofuscinosis (Batten's disease): Relationship to amaurotic family idiocy?
-
Zeman, W., P. Dyken: Neuronal ceroid-lipofuscinosis (Batten's disease): relationship to amaurotic family idiocy? Pediatrics 44 (1969) 570-583
-
(1969)
Pediatrics
, vol.44
, pp. 570-583
-
-
Zeman, W.1
Dyken, P.2
|