-
1
-
-
0029153109
-
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
-
Vesa J., Hellsten E., Verkruyse L.A., Camp L.A., Rapola J., Santavuori P., Hofmann S.L., and Peltonen L. 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.A.3
Camp, L.A.4
Rapola, J.5
Santavuori, P.6
Hofmann, S.L.7
Peltonen, L.8
-
2
-
-
0032527617
-
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S
-
Das A.K., Becerra C.H.R., Yi W., Lu J.-Y., Siakotos A.N., Wisniewski K.E., and Hofmann S.L. Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. J. Clin. Invest. 102 (1998) 361-370
-
(1998)
J. Clin. Invest.
, vol.102
, pp. 361-370
-
-
Das, A.K.1
Becerra, C.H.R.2
Yi, W.3
Lu, J.-Y.4
Siakotos, A.N.5
Wisniewski, K.E.6
Hofmann, S.L.7
-
3
-
-
0034903333
-
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease
-
van Diggelen O.P., Thobois S., Tilikete C., Zabot M.T., Keulemans J.L., van Bunderen P.A., Taschner P.E., Losekoot M., and Voznyi Y.V. Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. Ann. Neurol. 50 (2001) 269-272
-
(2001)
Ann. Neurol.
, vol.50
, pp. 269-272
-
-
van Diggelen, O.P.1
Thobois, S.2
Tilikete, C.3
Zabot, M.T.4
Keulemans, J.L.5
van Bunderen, P.A.6
Taschner, P.E.7
Losekoot, M.8
Voznyi, Y.V.9
-
4
-
-
33846706777
-
Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1
-
Ramadan H., Al-Din A.S., Ismail A., Balen F., Varma A., Twomey A., Watts R., Jackson M., Anderson G., Green E., and Mole S.E. Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1. Neurology 68 (2007) 387-388
-
(2007)
Neurology
, vol.68
, pp. 387-388
-
-
Ramadan, H.1
Al-Din, A.S.2
Ismail, A.3
Balen, F.4
Varma, A.5
Twomey, A.6
Watts, R.7
Jackson, M.8
Anderson, G.9
Green, E.10
Mole, S.E.11
-
5
-
-
25844517550
-
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses
-
Mole S.E., Williams R.E., and Goebel H.H. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics 6 (2005) 107-126
-
(2005)
Neurogenetics
, vol.6
, pp. 107-126
-
-
Mole, S.E.1
Williams, R.E.2
Goebel, H.H.3
-
6
-
-
0034926037
-
Cardiac pathology in neuronal ceroid lipofuscinoses - a clinicopathologic correlation in three patients
-
Hofman I.L., van der Wal A.C., Dingemans K.P., and Becker A.E. Cardiac pathology in neuronal ceroid lipofuscinoses - a clinicopathologic correlation in three patients. Eur. J. Paediatr. Neurol. 5 Suppl. A (2001) 213-217
-
(2001)
Eur. J. Paediatr. Neurol.
, vol.5
, Issue.SUPPL. A
, pp. 213-217
-
-
Hofman, I.L.1
van der Wal, A.C.2
Dingemans, K.P.3
Becker, A.E.4
-
7
-
-
0027989872
-
Molecular cloning and expression of palmitoyl-protein thioesterase
-
Camp L.A., Verkruyse L.A., Afendis S.J., Slaughter C.A., and Hofmann S.L. 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.A.1
Verkruyse, L.A.2
Afendis, S.J.3
Slaughter, C.A.4
Hofmann, S.L.5
-
8
-
-
0023860003
-
Proliferin secreted by cultured cells binds to mannose 6-phosphate receptors
-
Lee S.J., and Nathans D. Proliferin secreted by cultured cells binds to mannose 6-phosphate receptors. J. Biol. Chem. 263 (1988) 3521-3527
-
(1988)
J. Biol. Chem.
, vol.263
, pp. 3521-3527
-
-
Lee, S.J.1
Nathans, D.2
-
9
-
-
0035397487
-
Production and characterization of recombinant human CLN2 protein for enzyme-replacement therapy in late infantile neuronal ceroid lipofuscinosis
-
Lin L., and Lobel P. Production and characterization of recombinant human CLN2 protein for enzyme-replacement therapy in late infantile neuronal ceroid lipofuscinosis. Biochem. J. 357 (2001) 49-55
-
(2001)
Biochem. J.
, vol.357
, pp. 49-55
-
-
Lin, L.1
Lobel, P.2
-
10
-
-
0020400592
-
Amplification and expression of sequences cotransfected with a modular dihydrofolate reductase complementary dna gene
-
Kaufman R.J., and Sharp P.A. Amplification and expression of sequences cotransfected with a modular dihydrofolate reductase complementary dna gene. J. Mol. Biol. 159 (1982) 601-621
-
(1982)
J. Mol. Biol.
, vol.159
, pp. 601-621
-
-
Kaufman, R.J.1
Sharp, P.A.2
-
11
-
-
0032807058
-
A rapid fluorogenic palmitoyl-protein thioesterase assay: pre- and postnatal diagnosis of INCL
-
van Diggelen O.P., Keulemans J.L., Winchester B., Hofman I.L., Vanhanen S.L., Santavuori P., and Voznyi Y.V. A rapid fluorogenic palmitoyl-protein thioesterase assay: pre- and postnatal diagnosis of INCL. Mol. Genet. Metab. 66 (1999) 240-244
-
(1999)
Mol. Genet. Metab.
, vol.66
, pp. 240-244
-
-
van Diggelen, O.P.1
Keulemans, J.L.2
Winchester, B.3
Hofman, I.L.4
Vanhanen, S.L.5
Santavuori, P.6
Voznyi, Y.V.7
-
12
-
-
0029788513
-
Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase
-
Lu J.Y., Verkruyse L.A., and 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
-
(1996)
Proc. Natl. Acad. Sci. USA
, vol.93
, pp. 10046-10050
-
-
Lu, J.Y.1
Verkruyse, L.A.2
Hofmann, S.L.3
-
13
-
-
0037071846
-
The effects of lysosomotropic agents on normal and INCL cells provide further evidence for the lysosomal nature of palmitoyl-protein thioesterase function
-
Lu J.Y., Verkruyse L.A., and Hofmann S.L. The effects of lysosomotropic agents on normal and INCL cells provide further evidence for the lysosomal nature of palmitoyl-protein thioesterase function. Biochim. Biophys. Acta 1583 (2002) 35-44
-
(2002)
Biochim. Biophys. Acta
, vol.1583
, pp. 35-44
-
-
Lu, J.Y.1
Verkruyse, L.A.2
Hofmann, S.L.3
-
14
-
-
0042160816
-
Evidence for specific recognition sites mediating clearance of lysosomal enzymes in vivo
-
Stahl P., Six H., Rodman J.S., Schlesinger P., Tulsiani D.R., and Touster O. Evidence for specific recognition sites mediating clearance of lysosomal enzymes in vivo. Proc. Natl. Acad. Sci. USA 73 (1976) 4045-4049
-
(1976)
Proc. Natl. Acad. Sci. USA
, vol.73
, pp. 4045-4049
-
-
Stahl, P.1
Six, H.2
Rodman, J.S.3
Schlesinger, P.4
Tulsiani, D.R.5
Touster, O.6
-
15
-
-
40649102937
-
Chemically modified beta-glucuronidase crosses blood-brain barrier and clears neuronal storage in murine mucopolysaccharidosis VII
-
Grubb J.H., Vogler C., Levy B., Galvin N., Tan Y., and Sly W.S. Chemically modified beta-glucuronidase crosses blood-brain barrier and clears neuronal storage in murine mucopolysaccharidosis VII. Proc. Natl. Acad. Sci. USA 105 (2008) 2616-2621
-
(2008)
Proc. Natl. Acad. Sci. USA
, vol.105
, pp. 2616-2621
-
-
Grubb, J.H.1
Vogler, C.2
Levy, B.3
Galvin, N.4
Tan, Y.5
Sly, W.S.6
-
16
-
-
0141621057
-
The crystal structure of palmitoyl protein thioesterase-2 (PPT2) reveals the basis for divergent substrate specificities of the two lysosomal thioesterases, PPT1 and PPT2
-
Calero G., Gupta P., Nonato M.C., Tandel S., Biehl E.R., Hofmann S.L., and Clardy J. The crystal structure of palmitoyl protein thioesterase-2 (PPT2) reveals the basis for divergent substrate specificities of the two lysosomal thioesterases, PPT1 and PPT2. J. Biol. Chem. 278 (2003) 37957-37964
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 37957-37964
-
-
Calero, G.1
Gupta, P.2
Nonato, M.C.3
Tandel, S.4
Biehl, E.R.5
Hofmann, S.L.6
Clardy, J.7
-
17
-
-
0027518208
-
Purification and properties of a palmitoyl-protein thioesterase that cleaves palmitate from H-Ras
-
Camp L.A., and Hofmann S.L. Purification and properties of a palmitoyl-protein thioesterase that cleaves palmitate from H-Ras. J. Biol. Chem. 268 (1993) 22566-22574
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 22566-22574
-
-
Camp, L.A.1
Hofmann, S.L.2
-
18
-
-
33645701362
-
HuCNS-SC (StemCells)
-
Taupin P. HuCNS-SC (StemCells). Curr. Opin. Mol. Ther. 8 (2006) 156-163
-
(2006)
Curr. Opin. Mol. Ther.
, vol.8
, pp. 156-163
-
-
Taupin, P.1
-
19
-
-
69449089145
-
Neuroprotection of host cells by human central nervous system stem cells in a mouse model of infantile neuronal ceroid lipofuscinosis
-
Tamaki S.J., Jacobs Y., Dohse M., Capela A., Cooper J.D., Reitsma M., He D., Tushinski R., Belichenko P.V., Salehi A., Mobley W., Gage F.H., Huhn S., Tsukamoto A.S., Weissman I.L., and Uchida N. Neuroprotection of host cells by human central nervous system stem cells in a mouse model of infantile neuronal ceroid lipofuscinosis. Cell Stem Cell 5 (2009) 310-319
-
(2009)
Cell Stem Cell
, vol.5
, pp. 310-319
-
-
Tamaki, S.J.1
Jacobs, Y.2
Dohse, M.3
Capela, A.4
Cooper, J.D.5
Reitsma, M.6
He, D.7
Tushinski, R.8
Belichenko, P.V.9
Salehi, A.10
Mobley, W.11
Gage, F.H.12
Huhn, S.13
Tsukamoto, A.S.14
Weissman, I.L.15
Uchida, N.16
-
20
-
-
2942588715
-
Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile neuronal ceroid lipofuscinosis
-
Griffey M., Bible E., Vogler C., Levy B., Gupta P., Cooper J., and Sands M.S. Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile neuronal ceroid lipofuscinosis. Neurobiol. Dis. 16 (2004) 360-369
-
(2004)
Neurobiol. Dis.
, vol.16
, pp. 360-369
-
-
Griffey, M.1
Bible, E.2
Vogler, C.3
Levy, B.4
Gupta, P.5
Cooper, J.6
Sands, M.S.7
-
21
-
-
32944454332
-
CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of infantile neuronal ceroid lipofuscinosis
-
Griffey M.A., Wozniak D., Wong M., Bible E., Johnson K., Rothman S.M., Wentz A.E., Cooper J.D., and Sands M.S. CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of infantile neuronal ceroid lipofuscinosis. Mol. Ther. 13 (2006) 538-547
-
(2006)
Mol. Ther.
, vol.13
, pp. 538-547
-
-
Griffey, M.A.1
Wozniak, D.2
Wong, M.3
Bible, E.4
Johnson, K.5
Rothman, S.M.6
Wentz, A.E.7
Cooper, J.D.8
Sands, M.S.9
-
22
-
-
48849084889
-
A murine model of infantile neuronal ceroid lipofuscinosis-ultrastructural evaluation of storage in the central nervous system and viscera
-
Galvin N., Vogler C., Levy B., Kovacs A., Griffey M., and Sands M.S. A murine model of infantile neuronal ceroid lipofuscinosis-ultrastructural evaluation of storage in the central nervous system and viscera. Pediatr. Dev. Pathol. 11 (2008) 185-192
-
(2008)
Pediatr. Dev. Pathol.
, vol.11
, pp. 185-192
-
-
Galvin, N.1
Vogler, C.2
Levy, B.3
Kovacs, A.4
Griffey, M.5
Sands, M.S.6
-
23
-
-
41149092265
-
Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis
-
Chang M., Cooper J.D., Sleat D.E., Cheng S.H., Dodge J.C., Passini M.A., Lobel P., and Davidson B.L. Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis. Mol. Ther. 16 (2008) 649-656
-
(2008)
Mol. Ther.
, vol.16
, pp. 649-656
-
-
Chang, M.1
Cooper, J.D.2
Sleat, D.E.3
Cheng, S.H.4
Dodge, J.C.5
Passini, M.A.6
Lobel, P.7
Davidson, B.L.8
-
24
-
-
34047267343
-
Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid
-
Dickson P., McEntee M., Vogler C., Le S., Levy B., Peinovich M., Hanson S., Passage M., and Kakkis E. Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid. Mol. Genet. Metab. 91 (2007) 61-68
-
(2007)
Mol. Genet. Metab.
, vol.91
, pp. 61-68
-
-
Dickson, P.1
McEntee, M.2
Vogler, C.3
Le, S.4
Levy, B.5
Peinovich, M.6
Hanson, S.7
Passage, M.8
Kakkis, E.9
-
25
-
-
33846904009
-
Injection of recombinant human sulfamidase into the CSF via the cerebellomedullary cistern in MPS IIIA mice
-
Hemsley K.M., King B., and Hopwood J.J. Injection of recombinant human sulfamidase into the CSF via the cerebellomedullary cistern in MPS IIIA mice. Mol. Genet. Metab. 90 (2007) 313-328
-
(2007)
Mol. Genet. Metab.
, vol.90
, pp. 313-328
-
-
Hemsley, K.M.1
King, B.2
Hopwood, J.J.3
-
26
-
-
61849184972
-
Examination of intravenous and intra-CSF protein delivery for treatment of neurological disease
-
Hemsley K.M., Luck A.J., Crawley A.C., Hassiotis S., Beard H., King B., Rozek T., Rozaklis T., Fuller M., and Hopwood J.J. Examination of intravenous and intra-CSF protein delivery for treatment of neurological disease. Eur. J. Neurosci. 29 (2009) 1197-1214
-
(2009)
Eur. J. Neurosci.
, vol.29
, pp. 1197-1214
-
-
Hemsley, K.M.1
Luck, A.J.2
Crawley, A.C.3
Hassiotis, S.4
Beard, H.5
King, B.6
Rozek, T.7
Rozaklis, T.8
Fuller, M.9
Hopwood, J.J.10
-
27
-
-
26844534412
-
Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII
-
Vogler C., Levy B., Grubb J.H., Galvin N., Tan Y., Kakkis E., Pavloff N., and Sly W.S. Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII. Proc. Natl. Acad. Sci. USA 102 (2005) 14777-14782
-
(2005)
Proc. Natl. Acad. Sci. USA
, vol.102
, pp. 14777-14782
-
-
Vogler, C.1
Levy, B.2
Grubb, J.H.3
Galvin, N.4
Tan, Y.5
Kakkis, E.6
Pavloff, N.7
Sly, W.S.8
-
28
-
-
54949131011
-
Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in alpha-mannosidosis mice
-
Blanz J., Stroobants S., Lullmann-Rauch R., Morelle W., Ludemann M., D'Hooge R., Reuterwall H., Michalski J.C., Fogh J., Andersson C., and Saftig P. Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in alpha-mannosidosis mice. Hum. Mol. Genet. 17 (2008) 3437-3445
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 3437-3445
-
-
Blanz, J.1
Stroobants, S.2
Lullmann-Rauch, R.3
Morelle, W.4
Ludemann, M.5
D'Hooge, R.6
Reuterwall, H.7
Michalski, J.C.8
Fogh, J.9
Andersson, C.10
Saftig, P.11
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