-
1
-
-
0033770941
-
Epilepsy and antiepileptic drug therapy in juvenile neuronal ceroid lipofuscinosis
-
Aberg LE, Backman M, Kirveskari E, Santavuori P, (2000). Epilepsy and antiepileptic drug therapy in juvenile neuronal ceroid lipofuscinosis. Epilepsia 41(10):1296-1302.
-
(2000)
Epilepsia
, vol.41
, Issue.10
, pp. 1296-1302
-
-
Aberg, L.E.1
Backman, M.2
Kirveskari, E.3
Santavuori, P.4
-
2
-
-
0034712969
-
The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis
-
Bellizzi JJ 3rd, Widom J, Kemp C, Lu JY, Das AK, Hofmann SL, Clardy J, (2000). The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis. Proc Natl Acad Sci USA 97:4573-4578.
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 4573-4578
-
-
Bellizzi, J.J.1
Widom, J.2
Kemp, C.3
Lu, J.Y.4
Das, A.K.5
Hofmann, S.L.6
Clardy, J.7
-
3
-
-
0037165915
-
The development of behavioral abnormalities in the motor neuron degeneration (mnd) mouse
-
Bolivar VJ, Scott Ganus J, Messer A, (2002). The development of behavioral abnormalities in the motor neuron degeneration (mnd) mouse. Brain Res 937:74-82.
-
(2002)
Brain Res
, vol.937
, pp. 74-82
-
-
Bolivar, V.J.1
Scott Ganus, J.2
Messer, A.3
-
4
-
-
0024251647
-
Clinical classification of neuronal ceroid-lipofuscinosis subtypes
-
Boustany RM, Alroy J, Kolodny EH, (1988). Clinical classification of neuronal ceroid-lipofuscinosis subtypes. Am J Med Genet Suppl. 5:47-58.
-
(1988)
Am J Med Genet
, pp. 47-58
-
-
Boustany, R.M.1
Alroy, J.2
Kolodny, E.H.3
-
5
-
-
0032557726
-
Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9
-
Bronson RT, Donahue LR, Johnson KR, Tanner A, Lane PW, Faust JR, (1998). Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9. Am J Med Genet 77:289-297.
-
(1998)
Am J Med Genet
, vol.77
, pp. 289-297
-
-
Bronson, R.T.1
Donahue, L.R.2
Johnson, K.R.3
Tanner, A.4
Lane, P.W.5
Faust, J.R.6
-
6
-
-
0034921555
-
Fine mapping of ovine ceroid lipofuscinosis confirms orthology with CLN6
-
Broom MF, Zhou C, (2001). Fine mapping of ovine ceroid lipofuscinosis confirms orthology with CLN6. Eur J Paediatr Neurol 5 Suppl A: 33-35.
-
(2001)
Eur J Paediatr Neurol
, vol.5
, pp. 33-35
-
-
Broom, M.F.1
Zhou, C.2
-
7
-
-
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 MC, Tandel S, Biehl ER, Hofmann SL, Clardy J, (2003). 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 278:37957-37964.
-
(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
-
8
-
-
0033813568
-
Neural and extraneural expression of the neuronal ceroid lipofuscinoses genes CLN 1, CLN2, and CLN3: Functional implications for CLN3
-
Chattopadhyay S and Pearce DA, (2000). Neural and extraneural expression of the neuronal ceroid lipofuscinoses genes CLN 1, CLN2, and CLN3: functional implications for CLN3. Mol Genet Metab 71:207-211.
-
(2000)
Mol Genet Metab
, vol.71
, pp. 207-211
-
-
Chattopadhyay, S.1
Pearce, D.A.2
-
9
-
-
0037107348
-
Cln3 (Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth
-
Cotman SL, Vrbanac V, Lebel LA, Lee RL, Johnson KA, Donahue LR, Teed AM, Antonellis K, Bronson RT, Lerner TJ, MacDonald ME, (2002). Cln3 (Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth. Hum Mol Genet 11:2709-2721.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2709-2721
-
-
Cotman, S.L.1
Vrbanac, V.2
Lebel, L.A.3
Lee, R.L.4
Johnson, K.A.5
Donahue, L.R.6
Teed, A.M.7
Antonellis, K.8
Bronson, R.T.9
Lerner, T.J.10
MacDonald, M.E.11
-
10
-
-
9244253213
-
Clinical protocol. Administration of a replication-deficient adeno-associated virus gene transfer vector expressing the human CLN2 cDNA to the brain of children with late infantile neuronal ceroid lipofuscinosis
-
Crystal RG, Sondhi D, Hackett NR, Kaminsky SM, Worgall S, Stieg P, Souweidane M, Hosain S, Heier L, Ballon D, Dinner M, Wisniewski K, Kaplitt M, Greenwald BM, Howell JD, Strybing K, Dyke J, Voss H, (2004). Clinical protocol. Administration of a replication-deficient adeno-associated virus gene transfer vector expressing the human CLN2 cDNA to the brain of children with late infantile neuronal ceroid lipofuscinosis. Hum Gene Ther 15:1131-1154.
-
(2004)
Hum Gene Ther
, vol.15
, pp. 1131-1154
-
-
Crystal, R.G.1
Sondhi, D.2
Hackett, N.R.3
Kaminsky, S.M.4
Worgall, S.5
Stieg, P.6
Souweidane, M.7
Hosain, S.8
Heier, L.9
Ballon, D.10
Dinner, M.11
Wisniewski, K.12
Kaplitt, M.13
Greenwald, B.M.14
Howell, J.D.15
Strybing, K.16
Dyke, J.17
Voss, H.18
-
11
-
-
0032527617
-
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U. S
-
Das AK, Becerra CH, Yi W, Lu JY, Siakotos AN, Wisniewski KE, Hofmann SL, (1998). Molecular genetics of palmitoyl-protein thioesterase deficiency in the U. S. J Clin Invest 102(2):361-370.
-
(1998)
J Clin Invest
, vol.102
, Issue.2
, pp. 361-370
-
-
Das, A.K.1
Becerra, C.H.2
Yi, W.3
Lu, J.Y.4
Siakotos, A.N.5
Wisniewski, K.E.6
Hofmann, S.L.7
-
12
-
-
0035875063
-
Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipo-fuscinosis
-
Das AK, Lu JY, Hoffman SL, (2001). Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipo-fuscinosis. Hum Mol Genet 10:1431-1439.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1431-1439
-
-
Das, A.K.1
Lu, J.Y.2
Hoffman, S.L.3
-
13
-
-
0036194357
-
Flupirtine blocks apoptosis in batten patient lymphoblasts and in human postmitotic CLN3- and CLN2-deficient neurons
-
Dhar S, Bitting RL, Rylova SN, Jansen PJ, Lockhart E, Koeberl DD, Amalfitano A, Boustany RM, (2002). Flupirtine blocks apoptosis in batten patient lymphoblasts and in human postmitotic CLN3- and CLN2-deficient neurons. Ann Neurol 51:448-466.
-
(2002)
Ann Neurol
, vol.51
, pp. 448-466
-
-
Dhar, S.1
Bitting, R.L.2
Rylova, S.N.3
Jansen, P.J.4
Lockhart, E.5
Koeberl, D.D.6
Amalfitano, A.7
Boustany, R.M.8
-
14
-
-
1042288280
-
The intracellular location and function of proteins of neuronal ceroid lipofuscinoses
-
Ezaki J, and Kominami E, 2004. The intracellular location and function of proteins of neuronal ceroid lipofuscinoses. Brain Pathol 14:77-85.
-
(2004)
Brain Pathol
, vol.14
, pp. 77-85
-
-
Ezaki, J.1
Kominami, E.2
-
15
-
-
0344011621
-
Characterization of Cln3p, the gene product responsible for juvenile neuronal ceroid lipofuscinosis, as a lysosomal integral membrane glycoprotein
-
Ezaki J, Takeda-Ezaki M, Koike M, Ohsawa Y, Taka H, Mineki R, Murayama K, Uchiyama Y, Ueno T, Kominami E, (2003). Characterization of Cln3p, the gene product responsible for juvenile neuronal ceroid lipofuscinosis, as a lysosomal integral membrane glycoprotein. J Neurochem 87:1296-1308.
-
(2003)
J Neurochem
, vol.87
, pp. 1296-1308
-
-
Ezaki, J.1
Takeda-Ezaki, M.2
Koike, M.3
Ohsawa, Y.4
Taka, H.5
Mineki, R.6
Murayama, K.7
Uchiyama, Y.8
Ueno, T.9
Kominami, E.10
-
16
-
-
0032973867
-
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
-
Ezaki J, Tanida I, Kanehagi N, Kominami E, (1999). 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 72:2573-2582.
-
(1999)
J Neurochem
, vol.72
, pp. 2573-2582
-
-
Ezaki, J.1
Tanida, I.2
Kanehagi, N.3
Kominami, E.4
-
17
-
-
0030741684
-
Decreased lysosomal subunit c-degrading activity in fibroblasts from patients with late infantile neuronal ceroid lipofuscinosis
-
Ezaki J, Wolfe LS, Kominami E, (1997). Decreased lysosomal subunit c-degrading activity in fibroblasts from patients with late infantile neuronal ceroid lipofuscinosis. Neuropediatrics 28:53-55.
-
(1997)
Neuropediatrics
, vol.28
, pp. 53-55
-
-
Ezaki, J.1
Wolfe, L.S.2
Kominami, E.3
-
18
-
-
0036155235
-
Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse
-
Gao H, Boustany RM, Espinola JA, Cotman SL, Srinidhi L, Antonellis KA, Gillis T, Qin X, Liu S, Donahue LR, Bronson RT, Faust JR, Stout D, Haines JL, Lerner TJ, MacDonald ME, (2002). Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Am J Hum Genet 70:324-335.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 324-335
-
-
Gao, H.1
Boustany, R.M.2
Espinola, J.A.3
Cotman, S.L.4
Srinidhi, L.5
Antonellis, K.A.6
Gillis, T.7
Qin, X.8
Liu, S.9
Donahue, L.R.10
Bronson, R.T.11
Faust, J.R.12
Stout, D.13
Haines, J.L.14
Lerner, T.J.15
MacDonald, M.E.16
-
19
-
-
0033864041
-
CLN3 protein regulates lysosomal pH and alters intracellular processing of Alzheimer's amyloid-beta protein precursor and cathepsin D in human cells
-
Golabek AA, Kida E, Walus M, Wujek P, Mehta P, Wisniewski KE, (2000). CLN3 protein regulates lysosomal pH and alters intracellular processing of Alzheimer's amyloid-beta protein precursor and cathepsin D in human cells. Mol Genet Metab 70:203-213.
-
(2000)
Mol Genet Metab
, vol.70
, pp. 203-213
-
-
Golabek, A.A.1
Kida, E.2
Walus, M.3
Wujek, P.4
Mehta, P.5
Wisniewski, K.E.6
-
20
-
-
0037470135
-
Biosynthesis, glycosylation, and enzymatic processing in vivo of human tripeptidyl-peptidase I
-
Golabek AA, Kida E, Walus M, Wujek P, Mehta P, Wisniewski KE, (2003) Biosynthesis, glycosylation, and enzymatic processing in vivo of human tripeptidyl-peptidase I. J Biol Chem 278:7135-7145.
-
(2003)
J Biol Chem
, vol.278
, pp. 7135-7145
-
-
Golabek, A.A.1
Kida, E.2
Walus, M.3
Wujek, P.4
Mehta, P.5
Wisniewski, K.E.6
-
21
-
-
14844315692
-
Glycosaminoglycans modulate activation, activity, and stability of tripeptidyl-peptidase I in vitro and in vivo
-
Golabek AA, Walus M, Wisniewski KE, Kida E, (2005). Glycosaminoglycans modulate activation, activity, and stability of tripeptidyl-peptidase I in vitro and in vivo. J Biol Chem 280:7550-7561.
-
(2005)
J Biol Chem
, vol.280
, pp. 7550-7561
-
-
Golabek, A.A.1
Walus, M.2
Wisniewski, K.E.3
Kida, E.4
-
22
-
-
2942588715
-
Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of Infantile Neuronal Ceroid Lipofus-cinosis (INCL)
-
Griffey M, Bible E, Vogler C, Levy B, Gupta P, Cooper J, Sands MS, (2004). Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of Infantile Neuronal Ceroid Lipofus-cinosis (INCL). Neurobiol Dis 16:360-369.
-
(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
-
23
-
-
32944454332
-
CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of infantile neuronal ceroid lipofuscinosis
-
Griffey MA, Wozniak D, Wong M, Bible E, Johnson K, Rothman SM, Wentz AE, Cooper JD, Sands MS, (2006). CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of infantile neuronal ceroid lipofuscinosis. Mol Ther. 13:538-547.
-
(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
-
24
-
-
0035923662
-
Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice
-
Gupta P, Soyombo AA, Atashband A, Wisniewski KE, Shelton JM, Richardson JA, Hammer RE, Hofmann SL, (2001). Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. PNAS, USA 98:13566-13571.
-
(2001)
PNAS, USA
, vol.98
, pp. 13566-13571
-
-
Gupta, P.1
Soyombo, A.A.2
Atashband, A.3
Wisniewski, K.E.4
Shelton, J.M.5
Richardson, J.A.6
Hammer, R.E.7
Hofmann, S.L.8
-
25
-
-
0034701293
-
Batten Disease: Evaluation of CLN3 mutations on protein trafficking and function
-
Haskell RE, Carr CJ, Pearce DA, Bennett MJ, Davidson BL (2000). Batten Disease: Evaluation of CLN3 mutations on protein trafficking and function. Hum Mol Genet 9:735-744.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 735-744
-
-
Haskell, R.E.1
Carr, C.J.2
Pearce, D.A.3
Bennett, M.J.4
Davidson, B.L.5
-
26
-
-
0037269148
-
Viral-mediated delivery of the late-infantile neuronal ceroid lipofuscinosis gene, TPP I to the mouse central nervous system
-
Haskell RE, Hughes SM, Chiorini JA, Alisky JM, Davidson BL, (2003). Viral-mediated delivery of the late-infantile neuronal ceroid lipofuscinosis gene, TPP I to the mouse central nervous system. Gene Ther 10:34-42.
-
(2003)
Gene Ther
, vol.10
, pp. 34-42
-
-
Haskell, R.E.1
Hughes, S.M.2
Chiorini, J.A.3
Alisky, J.M.4
Davidson, B.L.5
-
27
-
-
2542482500
-
Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A
-
Heine C, Koch B, Storch S, Kohlschutter A, Palmer DN, Braulke T, (2004). Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A. J Biol Chem 279:22347-22352.
-
(2004)
J Biol Chem
, vol.279
, pp. 22347-22352
-
-
Heine, C.1
Koch, B.2
Storch, S.3
Kohlschutter, A.4
Palmer, D.N.5
Braulke, T.6
-
28
-
-
0033774798
-
CLN-1 and CLN-5, genes for infantile and variant late infantile neuronal ceroid lipofuscinoses, are expressed in the embryonic human brain
-
Heinonen O, Salonen T, Jalanko A, Peltonen L, Copp A, (2000). CLN-1 and CLN-5, genes for infantile and variant late infantile neuronal ceroid lipofuscinoses, are expressed in the embryonic human brain. J Comp Neurol 426:406-412.
-
(2000)
J Comp Neurol
, vol.426
, pp. 406-412
-
-
Heinonen, O.1
Salonen, T.2
Jalanko, A.3
Peltonen, L.4
Copp, A.5
-
29
-
-
0029843717
-
Human palmitoyl protein thioesterase: Evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis
-
Hellsten E, Vesa J, Olkkonen VM, Jalanko A, Peltonen L, (1996). Human palmitoyl protein thioesterase: Evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis. EMBO J 15:5240-5245.
-
(1996)
EMBO J
, vol.15
, pp. 5240-5245
-
-
Hellsten, E.1
Vesa, J.2
Olkkonen, V.M.3
Jalanko, A.4
Peltonen, L.5
-
30
-
-
2342599787
-
The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain
-
Holmberg V, Jalanko A, Isosomppi J, Fabritius AL, Peltonen L, Kopra O, (2004). The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain. Neurobiol Dis 16:29-40.
-
(2004)
Neurobiol Dis
, vol.16
, pp. 29-40
-
-
Holmberg, V.1
Jalanko, A.2
Isosomppi, J.3
Fabritius, A.L.4
Peltonen, L.5
Kopra, O.6
-
31
-
-
0033849174
-
Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5)
-
Holmberg V, Lauronen L, Autti T, Santavuori P, Savukoski M, Uvebrant P, Hofman I, Peltonen L, Jarvela I, (2000). Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5). Neurology 55:579-581.
-
(2000)
Neurology
, vol.55
, pp. 579-581
-
-
Holmberg, V.1
Lauronen, L.2
Autti, T.3
Santavuori, P.4
Savukoski, M.5
Uvebrant, P.6
Hofman, I.7
Peltonen, L.8
Jarvela, I.9
-
32
-
-
0035170833
-
Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)
-
Holopainen JM, Saarikoski J, Kinnunen PK, Jarvela I, (2001). Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs). Eur J Biochem 268:5851-5856.
-
(2001)
Eur J Biochem
, vol.268
, pp. 5851-5856
-
-
Holopainen, J.M.1
Saarikoski, J.2
Kinnunen, P.K.3
Jarvela, I.4
-
33
-
-
0033408370
-
Developmental expression of palmitoyl protein thioesterase in normal mice
-
Isosomppi J, Heinonen O, Hiltunen JO, Greene ND, Vesa J, Uusitalo A, Mitchison HM, Saarma M, Jalanko A, Peltonen L, (1999). Developmental expression of palmitoyl protein thioesterase in normal mice. Brain Res Dev Brain Res 118:1-11.
-
(1999)
Brain Res Dev Brain Res
, vol.118
, pp. 1-11
-
-
Isosomppi, J.1
Heinonen, O.2
Hiltunen, J.O.3
Greene, N.D.4
Vesa, J.5
Uusitalo, A.6
Mitchison, H.M.7
Saarma, M.8
Jalanko, A.9
Peltonen, L.10
-
34
-
-
0037091074
-
Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein
-
Isosomppi J, Vesa J, Jalanko A, Peltonen L, (2002). Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein. Hum Mol Genet 11:885-891.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 885-891
-
-
Isosomppi, J.1
Vesa, J.2
Jalanko, A.3
Peltonen, L.4
-
35
-
-
11844286979
-
Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of inter-neurons
-
Jalanko A, Vesa J, Manninen T, von Schantz C, Minye H, Fabritius AL, Salonen T, Rapola J, Gentile M, Kopra O, Peltonen L, (2005). Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of inter-neurons. Neurobiol Dis 18:226-241.
-
(2005)
Neurobiol Dis
, vol.18
, pp. 226-241
-
-
Jalanko, A.1
Vesa, J.2
Manninen, T.3
Von Schantz, C.4
Minye, H.5
Fabritius, A.L.6
Salonen, T.7
Rapola, J.8
Gentile, M.9
Kopra, O.10
Peltonen, L.11
-
36
-
-
0344867852
-
Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)
-
Jarvela I, Lehtovirta M, Tikkanen R, Kyttala A, Jalanko A, (1999). Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL). Hum Mol Genet 8(6):1091-1098.
-
(1999)
Hum Mol Genet
, vol.8
, Issue.6
, pp. 1091-1098
-
-
Jarvela, I.1
Lehtovirta, M.2
Tikkanen, R.3
Kyttala, A.4
Jalanko, A.5
-
37
-
-
0036157394
-
Targeted retrograde gene delivery for neuronal protection
-
Kaspar BK, Erickson D, Schaffer D, Hinh L, Gage Fh, Peterson DA (2002). Targeted retrograde gene delivery for neuronal protection. Mol Ther 5:50-56.
-
(2002)
Mol Ther
, vol.5
, pp. 50-56
-
-
Kaspar, B.K.1
Erickson, D.2
Schaffer, D.3
Hinh, L.4
Fh, G.5
Peterson, D.A.6
-
38
-
-
0033566801
-
A mouse gene knockout model for juvenile ceroid-lipofuscinosis (Batten disease)
-
Katz ML, Shibuya H, Liu PC, Kaur S, Gao CL, Johnson GS, (1999). A mouse gene knockout model for juvenile ceroid-lipofuscinosis (Batten disease). J Neurosci Res 57:551-556.
-
(1999)
J Neurosci Res
, vol.57
, pp. 551-556
-
-
Katz, M.L.1
Shibuya, H.2
Liu, P.C.3
Kaur, S.4
Gao, C.L.5
Johnson, G.S.6
-
39
-
-
0035092617
-
Distribution of tripeptidyl peptidase I in human tissues under normal and pathological conditions
-
Kida E, Golabek AA, Walus M, Wujek P, Kaczmarski W, Wisniewski KE, (2001). Distribution of tripeptidyl peptidase I in human tissues under normal and pathological conditions. J Neuropathol Exp Neurol 60:280-292.
-
(2001)
J Neuropathol Exp Neurol
, vol.60
, pp. 280-292
-
-
Kida, E.1
Golabek, A.A.2
Walus, M.3
Wujek, P.4
Kaczmarski, W.5
Wisniewski, K.E.6
-
40
-
-
0344950510
-
Tripeptide probes for tripeptidyl protease I production via gene transfer
-
Kim M, Mao Q, Davidson BL, Wiemer DF, (2003). Tripeptide probes for tripeptidyl protease I production via gene transfer. J Med Chem 46:1603-1608.
-
(2003)
J Med Chem
, vol.46
, pp. 1603-1608
-
-
Kim, M.1
Mao, Q.2
Davidson, B.L.3
Wiemer, D.F.4
-
41
-
-
2442707527
-
The lysosomal degradation of neuromedin B is dependent on tripeptidyl peptidase-I: Evidence for the impairment of neuropeptide degradation in late-infantile neuronal ceroid lipofuscinosis
-
Kopan S, Sivasubramaniam U, Warburton MJ, (2004). The lysosomal degradation of neuromedin B is dependent on tripeptidyl peptidase-I: evidence for the impairment of neuropeptide degradation in late-infantile neuronal ceroid lipofuscinosis. Biochem Biophys Res Commun 319:58-65.
-
(2004)
Biochem Biophys Res Commun
, vol.319
, pp. 58-65
-
-
Kopan, S.1
Sivasubramaniam, U.2
Warburton, M.J.3
-
42
-
-
9744278990
-
A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging
-
Kopra O, Vesa J, von Schantz C, Manninen T, Minye H, Fabritius AL, Rapola J, van Diggelen OP, Saarela J, Jalanko A, Peltonen L, (2004). A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging. Hum Mol Genet 13:2893-2906.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2893-2906
-
-
Kopra, O.1
Vesa, J.2
Von Schantz, C.3
Manninen, T.4
Minye, H.5
Fabritius, A.L.6
Rapola, J.7
Van Diggelen, O.P.8
Saarela, J.9
Jalanko, A.10
Peltonen, L.11
-
43
-
-
0030833660
-
Bone marrow transplantation in late infantile Batten disease and juvenile Batten disease
-
Lake BD, Steward CG, Oakhill A, Wilson J, Perham TG, (1997). Bone marrow transplantation in late infantile Batten disease and juvenile Batten disease. Neuropediatrics. 28:80-81.
-
(1997)
Neuropediatrics.
, vol.28
, pp. 80-81
-
-
Lake, B.D.1
Steward, C.G.2
Oakhill, A.3
Wilson, J.4
Perham, T.G.5
-
44
-
-
0029147298
-
Isolation of a novel gene underlying Batten disease, CLN3
-
Lerner TJ, Boustany RM, Anderson JW, D'Arigo KL, Schlumpf K, Bucker AJ, Gusella JF, Haines JL, Kremmidiotis G, Lensink IL, Sutherland GR, Callen DF, Taschner PE, De Vos N, Van Ommen GJ, Breuning MH, Doggett NA, Meincke LJ, Liu Z, Goodwin LA, Tesmer JG, Mitchson HM, O'Rawe AM, Munroe PB (1995). Isolation of a novel gene underlying Batten disease, CLN3. Cell 82:949-957.
-
(1995)
Cell
, vol.82
, pp. 949-957
-
-
Lerner, T.J.1
Boustany, R.M.2
Anderson, J.W.3
D'Arigo, K.L.4
Schlumpf, K.5
Bucker, A.J.6
Gusella, J.F.7
Haines, J.L.8
Kremmidiotis, G.9
Lensink, I.L.10
Sutherland, G.R.11
Callen, D.F.12
Taschner, P.E.13
De Vos, N.14
Van Ommen, G.J.15
Breuning, M.H.16
Doggett, N.A.17
Meincke, L.J.18
Liu, Z.19
Goodwin, L.A.20
Tesmer, J.G.21
Mitchson, H.M.22
O'Rawe, A.M.23
Munroe, P.B.24
more..
-
45
-
-
0035397487
-
Production and characterization of recombinant human CLN2 protein for enzyme-replacement therapy in late infantile neuronal ceroid lipofus
-
Lin NL, Lobel P (2001) a. Production and characterization of recombinant human CLN2 protein for enzyme-replacement therapy in late infantile neuronal ceroid lipofus. Biochem J 357:49-55.
-
(2001)
Biochem J
, vol.357
, pp. 49-55
-
-
Lin, N.L.1
Lobel, P.2
-
46
-
-
0035910463
-
The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH
-
Lin NL, Sohart I, Lackland H, Lobel P (2001) b. The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH. J Biol Chem 276:2249-2255.
-
(2001)
J Biol Chem
, vol.276
, pp. 2249-2255
-
-
Lin, N.L.1
Sohart, I.2
Lackland, H.3
Lobel, P.4
-
47
-
-
0032103422
-
Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis
-
Liu CG, Sleat DE, Donnelly RJ, Lobel P (1998). Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis. Genomics 50:206-212.
-
(1998)
Genomics
, vol.50
, pp. 206-212
-
-
Liu, C.G.1
Sleat, D.E.2
Donnelly, R.J.3
Lobel, P.4
-
48
-
-
18844471093
-
The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum
-
Lonka L, Kyttala A, Ranta S, Jalanko A, Lehesjoki AE (2000). The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. Hum Mol Genet 9:1691-1697.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1691-1697
-
-
Lonka, L.1
Kyttala, A.2
Ranta, S.3
Jalanko, A.4
Lehesjoki, A.E.5
-
49
-
-
0034772310
-
CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: New clues to Batten disease
-
Luiro K, Kopra O, Lehtovirta M, Jalanko A (2001). CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: New clues to Batten disease. Hum Mol Genet 10:2123-2131.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2123-2131
-
-
Luiro, K.1
Kopra, O.2
Lehtovirta, M.3
Jalanko, A.4
-
50
-
-
0037464472
-
Membrane topology of CLN3, the protein underlying Batten disease
-
Mao Q, Foster BJ, Xia H, Davidson BL, (2003a). Membrane topology of CLN3, the protein underlying Batten disease. FEBS Lett 541:40-46.
-
(2003)
FEBS Lett
, vol.541
, pp. 40-46
-
-
Mao, Q.1
Foster, B.J.2
Xia, H.3
Davidson, B.L.4
-
51
-
-
0344872507
-
Intracellular trafficking of CLN2, the protein underlying the childhood neurodegenerative disease, Batten disease
-
Mao Q, Xia H, Davidson BL, (2003b). Intracellular trafficking of CLN2, the protein underlying the childhood neurodegenerative disease, Batten disease. FEBS Lett 555:351-357.
-
(2003)
FEBS Lett
, vol.555
, pp. 351-357
-
-
Mao, Q.1
Xia, H.2
Davidson, B.L.3
-
52
-
-
0032776836
-
Tissue expression and subcellular localion of CLN3, the Batten disease protein
-
Margraf LR, Boriack RL, Routheut AA, Cuppen I, Alhilali L, Bennett CJ, Bennett MJ, (1999). Tissue expression and subcellular localion of CLN3, the Batten disease protein. Mol Gen Metab 66:283-289.
-
(1999)
Mol Gen Metab
, vol.66
, pp. 283-289
-
-
Margraf, L.R.1
Boriack, R.L.2
Routheut, A.A.3
Cuppen, I.4
Alhilali, L.5
Bennett, C.J.6
Bennett, M.J.7
-
53
-
-
22544469698
-
A clinical rating scale for Batten disease: Reliable and relevant for clinical trials
-
Marshall FJ, De Blieck EA, Mink JW, Dure L, Adams H, Messin, S, Rothberg PG, Levy E, McDonough T, DeYoung J, Wang M, Ramirez-Montealegre D, Kwon JM, Pearce DA, (2005) A clinical rating scale for Batten disease: Reliable and relevant for clinical trials. Neurology 65(2):275-279.
-
(2005)
Neurology
, vol.65
, Issue.2
, pp. 275-279
-
-
Marshall, F.J.1
De Blieck, E.A.2
Mink, J.W.3
Dure, L.4
Adams, H.5
Messin, S.6
Rothberg, P.G.7
Levy, E.8
McDonough, T.9
De Young, J.10
Wang, M.11
Ramirez-Montealegre, D.12
Kwon, J.M.13
Pearce, D.A.14
-
54
-
-
0032744277
-
Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium (corrected)
-
Mitchison HM, Bernard DJ, Greene ND, Cooper JD, Junaid MA, Pullarkat RK, de Vos N, Breuning MH, Owens JW, Mobley WC, Gardiner RM, Lake BD, Taschner PE, Nussbaum RL (1999). Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium (corrected). Neurobiol Dis 6:321-334.
-
(1999)
Neurobiol Dis
, vol.6
, pp. 321-334
-
-
Mitchison, H.M.1
Bernard, D.J.2
Greene, N.D.3
Cooper, J.D.4
Junaid, M.A.5
Pullarkat, R.K.6
De Vos, N.7
Breuning, M.H.8
Owens, J.W.9
Mobley, W.C.10
Gardiner, R.M.11
Lake, B.D.12
Taschner, P.E.13
Nussbaum, R.L.14
-
55
-
-
1042276701
-
Selectivity and types of cell death in the neuronal ceroid lipofuscinoses
-
Mitchison HM, Lim MJ, Cooper JD, (2004). Selectivity and types of cell death in the neuronal ceroid lipofuscinoses. Brain Pathol 14:86-96.
-
(2004)
Brain Pathol
, vol.14
, pp. 86-96
-
-
Mitchison, H.M.1
Lim, M.J.2
Cooper, J.D.3
-
56
-
-
3242712107
-
CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein
-
Mole SA, Michaux G, Godlin S, Wheeler RB, Sharp JD, Cutler DF, (2004). CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein. Exp Cell Res 298:399-406.
-
(2004)
Exp Cell Res
, vol.298
, pp. 399-406
-
-
Mole, S.A.1
Michaux, G.2
Godlin, S.3
Wheeler, R.B.4
Sharp, J.D.5
Cutler, D.F.6
-
57
-
-
1042299968
-
The genetic spectrum of human neuronal ceroid-lipofuscinoses
-
Mole SE (2004). The genetic spectrum of human neuronal ceroid-lipofuscinoses. Brain Pathol 14:70-76.
-
(2004)
Brain Pathol
, vol.14
, pp. 70-76
-
-
Mole, S.E.1
-
58
-
-
33744530432
-
Saccharomyces cerevisiae lacking Btn1p modulate vacuolar ATPase activity in order to regulate pH imbalance in the vacuole
-
Padilla-Lopez S, Pearce DA, (2006). Saccharomyces cerevisiae lacking Btn1p modulate vacuolar ATPase activity in order to regulate pH imbalance in the vacuole. J Biol Chem. 281:10273-10280
-
(2006)
J Biol Chem.
, vol.281
, pp. 10273-10280
-
-
Padilla-Lopez, S.1
Pearce, D.A.2
-
59
-
-
32544458154
-
Intracranial delivery of CLN2 reduces brain pathology in a mouse model of classical late infantile neuronal ceroid lipofuscinosis
-
Passini MA, Dodge JC, Bu J, Yang W, Zhao Q, Sondhi D, Hackett NR, Kaminsky SM, Mao Q, Shihabuddin LS, Cheng SH, Sleat DE, Stewart GR, Davidson BL, Lobel P, Crystal RG, (2006). Intracranial delivery of CLN2 reduces brain pathology in a mouse model of classical late infantile neuronal ceroid lipofuscinosis. J Neurosci. 26:1334-1342.
-
(2006)
J Neurosci.
, vol.26
, pp. 1334-1342
-
-
Passini, M.A.1
Dodge, J.C.2
Bu, J.3
Yang, W.4
Zhao, Q.5
Sondhi, D.6
Hackett, N.R.7
Kaminsky, S.M.8
Mao, Q.9
Shihabuddin, L.S.10
Cheng, S.H.11
Sleat, D.E.12
Stewart, G.R.13
Davidson, B.L.14
Lobel, P.15
Crystal, R.G.16
-
60
-
-
0032905252
-
Action of Btn1p, the yeast ortholog of the human Batten disease gene
-
Pearce DA, Ferea T, Nosel SA, Das B, Sherman F (1999). Action of Btn1p, the yeast ortholog of the human Batten disease gene. Nat Genet 22:55-58.
-
(1999)
Nat Genet
, vol.22
, pp. 55-58
-
-
Pearce, D.A.1
Ferea, T.2
Nosel, S.A.3
Das, B.4
Sherman, F.5
-
61
-
-
0036712747
-
Motifs within the CLN3 protein: Modulation of cell growth rates and apoptosis
-
Persaud-Sawin DA, Vandongen A, Boustany RM, (2002). Motifs within the CLN3 protein: Modulation of cell growth rates and apoptosis. Hum Mol Genet 11:2129-2142.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2129-2142
-
-
Persaud-Sawin, D.A.1
Vandongen, A.2
Boustany, R.M.3
-
62
-
-
4544285361
-
Late onset neurodegeneration in the Cln3-/-mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation
-
Pontikis CC, Cella CV, Parihar N, Lim MJ, Chakrabarti S, Mitchison HM, Mobley WC, Rezaie P, Pearce DA, Cooper JD, (2004). Late onset neurodegeneration in the Cln3-/-mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation. Brain Res 1023:231-242.
-
(2004)
Brain Res
, vol.1023
, pp. 231-242
-
-
Pontikis, C.C.1
Cella, C.V.2
Parihar, N.3
Lim, M.J.4
Chakrabarti, S.5
Mitchison, H.M.6
Mobley, W.C.7
Rezaie, P.8
Pearce, D.A.9
Cooper, J.D.10
-
63
-
-
0032799217
-
CLN3 defines a novel antiapoptotic pathway operative in neurodegeneration and mediated by ceramide
-
Puranam KL, Guo WX, Qian WH, Nikbakht K, Boustany RM (1999). CLN3 defines a novel antiapoptotic pathway operative in neurodegeneration and mediated by ceramide. Mol Gen Metab 66:294-308.
-
(1999)
Mol Gen Metab
, vol.66
, pp. 294-308
-
-
Puranam, K.L.1
Guo, W.X.2
Qian, W.H.3
Nikbakht, K.4
Boustany, R.M.5
-
64
-
-
11144353883
-
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy
-
Ranta S, Topcu M, Tegelberg S, Tan H, Ustubutun A, Saatci I, Dufke A, Enders H, Pohl K, Alembik Y, Mitchell WA, Mole SE, Lehesjoki AE, (2004). Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. Hum Mutat 23:300-305.
-
(2004)
Hum Mutat
, vol.23
, pp. 300-305
-
-
Ranta, S.1
Topcu, M.2
Tegelberg, S.3
Tan, H.4
Ustubutun, A.5
Saatci, I.6
Dufke, A.7
Enders, H.8
Pohl, K.9
Alembik, Y.10
Mitchell, W.A.11
Mole, S.E.12
Lehesjoki, A.E.13
-
65
-
-
0032831071
-
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8
-
Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Bonaldo MF, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE, (1999). The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nat Genet 23:233-236.
-
(1999)
Nat Genet
, vol.23
, pp. 233-236
-
-
Ranta, S.1
Zhang, Y.2
Ross, B.3
Lonka, L.4
Takkunen, E.5
Messer, A.6
Sharp, J.7
Wheeler, R.8
Kusumi, K.9
Mole, S.10
Liu, W.11
Soares, M.B.12
Bonaldo, M.F.13
Hirvasniemi, A.14
De La Chapelle, A.15
Gilliam, T.C.16
Lehesjoki, A.E.17
-
66
-
-
0034848598
-
Neuronal trafficking of palmi-toyl protein thioesterase provides an excellent model to study the effects of different mutations which cause infantile neuronal ceroid lipofuscinocis
-
Salonen T, Heinonen-Kopra O, Vesa J, Jalanko A, (2001). Neuronal trafficking of palmi-toyl protein thioesterase provides an excellent model to study the effects of different mutations which cause infantile neuronal ceroid lipofuscinocis. Mol Cell Neurosci 18:131-140.
-
(2001)
Mol Cell Neurosci
, vol.18
, pp. 131-140
-
-
Salonen, T.1
Heinonen-Kopra, O.2
Vesa, J.3
Jalanko, A.4
-
67
-
-
0025736263
-
The spectrum of Jansky-Bielschowsky disease
-
Santavuori P, Rapola J, Nuutila A, Raininko R, Lappi M, Launes J, Herva R, Sainio K, (1991). The spectrum of Jansky-Bielschowsky disease. Neuropediatrics 22:92-96.
-
(1991)
Neuropediatrics
, vol.22
, pp. 92-96
-
-
Santavuori, P.1
Rapola, J.2
Nuutila, A.3
Raininko, R.4
Lappi, M.5
Launes, J.6
Herva, R.7
Sainio, K.8
-
68
-
-
0031803649
-
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis
-
Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L, (1998). CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nat Genet 19:286-288.
-
(1998)
Nat Genet
, vol.19
, pp. 286-288
-
-
Savukoski, M.1
Klockars, T.2
Holmberg, V.3
Santavuori, P.4
Lander, E.S.5
Peltonen, L.6
-
69
-
-
15044357259
-
Progressive myoclonic epilepsies: A review of genetic and therapeutic aspects
-
Shahwan A, Farrell M, Delanty N, (2005). Progressive myoclonic epilepsies: A review of genetic and therapeutic aspects. Lancet Neurol. 4:239-248.
-
(2005)
Lancet Neurol.
, vol.4
, pp. 239-248
-
-
Shahwan, A.1
Farrell, M.2
Delanty, N.3
-
70
-
-
2342611172
-
Neuronal ceroid lipofuscinosis: A clinicopathological study
-
Sinha S, Satishchandra P, Santosh V, Gayatri N, Shankar SK (2004). Neuronal ceroid lipofuscinosis: a clinicopathological study. Seizure 13:235-240.
-
(2004)
Seizure
, vol.13
, pp. 235-240
-
-
Sinha, S.1
Satishchandra, P.2
Santosh, V.3
Gayatri, N.4
Shankar, S.K.5
-
71
-
-
0030866233
-
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis
-
Sleat DE, Donnelly RJ, Lackland H, Liu CG, Sohar I, Pullarkat RK, Lobel P, (1997). Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science 277:1802-1805.
-
(1997)
Science
, vol.277
, pp. 1802-1805
-
-
Sleat, D.E.1
Donnelly, R.J.2
Lackland, H.3
Liu, C.G.4
Sohar, I.5
Pullarkat, R.K.6
Lobel, P.7
-
72
-
-
0033365201
-
Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder
-
Sleat DE, Gin RM, Sohar I, Wisniewski K, Sklower-Brooks S, Pullarkat RK, Palmer DN, Lerner TJ, Boustany RM, Uldall P, Siakotos AN, Donnelly RJ, Lobel P, (1999). Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. Am J Hum Genet 64:1511-1523.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1511-1523
-
-
Sleat, D.E.1
Gin, R.M.2
Sohar, I.3
Wisniewski, K.4
Sklower-Brooks, S.5
Pullarkat, R.K.6
Palmer, D.N.7
Lerner, T.J.8
Boustany, R.M.9
Uldall, P.10
Siakotos, A.N.11
Donnelly, R.J.12
Lobel, P.13
-
73
-
-
5644241723
-
A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration
-
Sleat DE, Wiseman JA, El-Banna M, Kim KH, Mao Q, Price S, Macauley SL, Sidman RL, Shen MM, Zhao Q, Passini MA, Davidson BL, Stewart GR, Lobel P, (2004). A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration. J Neurosci 24:9117-9126.
-
(2004)
J Neurosci
, vol.24
, pp. 9117-9126
-
-
Sleat, D.E.1
Wiseman, J.A.2
El-Banna, M.3
Kim, K.H.4
Mao, Q.5
Price, S.6
Macauley, S.L.7
Sidman, R.L.8
Shen, M.M.9
Zhao, Q.10
Passini, M.A.11
Davidson, B.L.12
Stewart, G.R.13
Lobel, P.14
-
74
-
-
0032778867
-
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
-
Sohar I, Sleat DE, Jadot M, Lobel P, (1999). 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. 73:700-711.
-
(1999)
J Neurochem.
, vol.73
, pp. 700-711
-
-
Sohar, I.1
Sleat, D.E.2
Jadot, M.3
Lobel, P.4
-
75
-
-
0033538010
-
Palmitoyl-protein thioesterase, an enzyme implicated in neurodegeneration, is localized in neurons and is develop-mentally regulated in rat brain
-
Suopanki J, Tynela J, Baumann M, Haltia M, (1999). Palmitoyl-protein thioesterase, an enzyme implicated in neurodegeneration, is localized in neurons and is develop-mentally regulated in rat brain. Neurosci Lett 265:53-56.
-
(1999)
Neurosci Lett
, vol.265
, pp. 53-56
-
-
Suopanki, J.1
Tynela, J.2
Baumann, M.3
Haltia, M.4
-
76
-
-
0034912440
-
Neuronal ceroid lipofus-cinosis in Australian Merino sheep: A new animal model
-
Tammen I, Cook RW, Nicholas FW, Raadsma HW, (2001). Neuronal ceroid lipofus-cinosis in Australian Merino sheep: a new animal model. Eur J Paediatr Neurol 5 Suppl A: 37-41.
-
(2001)
Eur J Paediatr Neurol
, vol.5
, pp. 37-41
-
-
Tammen, I.1
Cook, R.W.2
Nicholas, F.W.3
Raadsma, H.W.4
-
77
-
-
33646582013
-
Determination of the substrate specificity of tripeptidyl-peptidase I using combinatorial peptide libraries and development of improved fluorogenic substrates
-
Tian Y, Sohar I, Taylor JW, Lobel P, (2006). Determination of the substrate specificity of tripeptidyl-peptidase I using combinatorial peptide libraries and development of improved fluorogenic substrates. J Biol Chem. 281:6559-6572.
-
(2006)
J Biol Chem.
, vol.281
, pp. 6559-6572
-
-
Tian, Y.1
Sohar, I.2
Taylor, J.W.3
Lobel, P.4
-
78
-
-
0033198680
-
Tripeptidyl peptidases: Enzymes that count
-
Tomkinson B, (1999). Tripeptidyl peptidases: enzymes that count. Trends Biochem Sci 24:355-359.
-
(1999)
Trends Biochem Sci
, vol.24
, pp. 355-359
-
-
Tomkinson, B.1
-
79
-
-
0027224115
-
Storage of saposins A and D in infantile neuronal ceroid-lipofuscinosis
-
Tyynela J, Palmer DN, Baumann M, Haltia M Storage of saposins A and D in infantile neuronal ceroid-lipofuscinosis. FEBS Lett. (1993) 330:8-12.
-
(1993)
FEBS Lett.
, vol.330
, pp. 8-12
-
-
Tyynela, J.1
Palmer, D.N.2
Baumann, M.3
Haltia, M.4
-
80
-
-
12144291521
-
Neuroradiological findings (MRS, MRI, SPECT) in infantile neuronal ceroid-lipofuscinosis (infantile CLN1) at different stages of the disease
-
Vanhanen SL, Puranen J, Autti T, Raininko R, Liewendahl K, Nikkinen P, Santavuori P, Suominen P, Vuori K, Hakkinen AM, (2004). Neuroradiological findings (MRS, MRI, SPECT) in infantile neuronal ceroid-lipofuscinosis (infantile CLN1) at different stages of the disease. Neuropediatrics 35:27-35.
-
(2004)
Neuropediatrics
, vol.35
, pp. 27-35
-
-
Vanhanen, S.L.1
Puranen, J.2
Autti, T.3
Raininko, R.4
Liewendahl, K.5
Nikkinen, P.6
Santavuori, P.7
Suominen, P.8
Vuori, K.9
Hakkinen, A.M.10
-
81
-
-
0030009044
-
Lysosomal targeting of palmitoyl-protein thioesterase
-
Verkruyse LA and Hoffman SL, (1996). Lysosomal targeting of palmitoyl-protein thioesterase. J Biol Chem 271:15831-15836.
-
(1996)
J Biol Chem
, vol.271
, pp. 15831-15836
-
-
Verkruyse, L.A.1
Hoffman, S.L.2
-
82
-
-
0029153109
-
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
-
Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Hofmann SL, Peltonen L, (1995). Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 376:584-587.
-
(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
-
83
-
-
14244262812
-
Ser 475, Glu272, Asp 276, Asp327, and Asp360 are involved in catalytic activity of human tripeptidyl-peptidase I
-
Walus M, Kida E, Wisniewski KE, Golabek AA, (2005). Ser 475, Glu272, Asp 276, Asp327, and Asp360 are involved in catalytic activity of human tripeptidyl-peptidase I. FEBS Lett 579:1383-1388.
-
(2005)
FEBS Lett
, vol.579
, pp. 1383-1388
-
-
Walus, M.1
Kida, E.2
Wisniewski, K.E.3
Golabek, A.A.4
-
84
-
-
0036155408
-
The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein
-
Wheeler RB, Sharp JD, Schultz RA, Joslin JM, Williams RE, Mole SE, (2002). The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein. Am J Hum Genet 70:537-542.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 537-542
-
-
Wheeler, R.B.1
Sharp, J.D.2
Schultz, R.A.3
Joslin, J.M.4
Williams, R.E.5
Mole, S.E.6
-
85
-
-
0035964220
-
Pheno/genotypic correlations of neuronal ceroid lipofuscinoses
-
Wisniewski KE, Zhong N, Philippart M, (2001). Pheno/genotypic correlations of neuronal ceroid lipofuscinoses. Neurology. 57:576-581.
-
(2001)
Neurology.
, vol.57
, pp. 576-581
-
-
Wisniewski, K.E.1
Zhong, N.2
Philippart, M.3
-
86
-
-
1842581899
-
N-glycosylation is crucial for folding, trafficking, and stability of human tripeptidyl-peptidase I
-
Wujek P, Kida E, Walus M, Wisniewski KE, Golabek AA, (2004). N-glycosylation is crucial for folding, trafficking, and stability of human tripeptidyl-peptidase I. J Biol Chem 279:12827-12839.
-
(2004)
J Biol Chem
, vol.279
, pp. 12827-12839
-
-
Wujek, P.1
Kida, E.2
Walus, M.3
Wisniewski, K.E.4
Golabek, A.A.5
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