-
1
-
-
0015595210
-
Infantile type of so-called neuronal ceroid-lipofuscinosis. 1. A clinical study of 15 patients
-
10.1016/0022-510X(73)90075-0 4698309
-
Santavuori P Haltia M Rapola J Raitta C Infantile type of so-called neuronal ceroid-lipofuscinosis. 1. A clinical study of 15 patients J Neurol Sci 1973 18 3 257-267 10.1016/0022-510X(73)90075-0 4698309
-
(1973)
J Neurol Sci
, vol.18
, Issue.3
, pp. 257-267
-
-
Santavuori, P.1
Haltia, M.2
Rapola, J.3
Raitta, C.4
-
2
-
-
0015815856
-
Infantile type of so-called neuronal ceroid-lipofuscinosis. Histological and electron microscopic studies
-
10.1007/BF00697751 4763201
-
Haltia M Rapola J Santavuori P Infantile type of so-called neuronal ceroid-lipofuscinosis. Histological and electron microscopic studies Acta Neuropathol (Berl) 1973 26 2 157-170 10.1007/BF00697751 4763201
-
(1973)
Acta Neuropathol (Berl)
, vol.26
, Issue.2
, pp. 157-170
-
-
Haltia, M.1
Rapola, J.2
Santavuori, P.3
-
3
-
-
0029153109
-
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
-
10.1038/376584a0 7637805
-
Vesa J Hellsten E Verkruyse LA Camp LA Rapola J Santavuori P Hofmann SL Peltonen L Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis Nature 1995 376 6541 584-587 10.1038/376584a0 7637805
-
(1995)
Nature
, vol.376
, Issue.6541
, 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
-
4
-
-
0030009044
-
Lysosomal targeting of palmitoyl-protein thioesterase
-
10.1074/jbc.271.26.15831 8663305
-
Verkruyse LA Hofmann SL Lysosomal targeting of palmitoyl-protein thioesterase J Biol Chem 1996 271 26 15831-15836 10.1074/ jbc.271.26.15831 8663305
-
(1996)
J Biol Chem
, vol.271
, Issue.26
, pp. 15831-15836
-
-
Verkruyse, L.A.1
Hofmann, S.L.2
-
5
-
-
0029843717
-
Human palmitoyl protein thioesterase: Evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis
-
452268 8895569
-
Hellsten E Vesa J Olkkonen VM 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 1996 15 19 5240-5245 452268 8895569
-
(1996)
Embo J
, vol.15
, Issue.19
, pp. 5240-5245
-
-
Hellsten, E.1
Vesa, J.2
Olkkonen, V.M.3
Jalanko, A.4
Peltonen, L.5
-
6
-
-
0037434057
-
Palmitoyl protein thioesterase 1 is targeted to the axons in neurons
-
10.1002/cne.10492 12483688
-
Ahtiainen L Van Diggelen OP Jalanko A Kopra O Palmitoyl protein thioesterase 1 is targeted to the axons in neurons J Comp Neurol 2003 455 3 368-377 10.1002/cne.10492 12483688
-
(2003)
J Comp Neurol
, vol.455
, Issue.3
, pp. 368-377
-
-
Ahtiainen, L.1
Van Diggelen, O.P.2
Jalanko, A.3
Kopra, O.4
-
8
-
-
0035167162
-
Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: Implications for infantile neuronal ceroid lipofuscinosis (INCL)
-
10.1093/hmg/10.1.69 11136716
-
Lehtovirta M Kyttala A Eskelinen EL Hess M Heinonen O Jalanko A Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: Implications for infantile neuronal ceroid lipofuscinosis (INCL) Hum Mol Genet 2001 10 1 69-75 10.1093/hmg/10.1.69 11136716
-
(2001)
Hum Mol Genet
, vol.10
, Issue.1
, pp. 69-75
-
-
Lehtovirta, M.1
Kyttala, A.2
Eskelinen, E.L.3
Hess, M.4
Heinonen, O.5
Jalanko, A.6
-
9
-
-
0027518208
-
Purification and properties of a palmitoyl-protein thioesterase that cleaves palmitate from H-Ras
-
7901201
-
Camp LA Hofmann SL Purification and properties of a palmitoyl-protein thioesterase that cleaves palmitate from H-Ras J Biol Chem 1993 268 30 22566-22574 7901201
-
(1993)
J Biol Chem
, vol.268
, Issue.30
, pp. 22566-22574
-
-
Camp, L.A.1
Hofmann, S.L.2
-
10
-
-
0036779578
-
Protein palmitoylation: A regulator of neuronal development and function
-
10.1038/nrn940 12360323
-
el-Husseini Ael D Bredt DS Protein palmitoylation: A regulator of neuronal development and function Nat Rev Neurosci 2002 3 10 791-802 10.1038/nrn940 12360323
-
(2002)
Nat Rev Neurosci
, vol.3
, Issue.10
, pp. 791-802
-
-
el-Husseini Ael, D.1
Bredt, D.S.2
-
11
-
-
0037213362
-
The on-off story of protein palmitoylation
-
10.1016/S0962-8924(02)00008-9 12480338
-
Bijlmakers MJ Marsh M The on-off story of protein palmitoylation Trends Cell Biol 2003 13 1 32-42 10.1016/S0962-8924(02)00008-9 12480338
-
(2003)
Trends Cell Biol
, vol.13
, Issue.1
, pp. 32-42
-
-
Bijlmakers, M.J.1
Marsh, M.2
-
12
-
-
25844522857
-
Modulation of neuronal protein trafficking and function by palmitoylation
-
10.1016/j.conb.2005.08.001 16125924
-
Huang K El-Husseini A Modulation of neuronal protein trafficking and function by palmitoylation Curr Opin Neurobiol 2005 15 5 527-535 10.1016/ j.conb.2005.08.001 16125924
-
(2005)
Curr Opin Neurobiol
, vol.15
, Issue.5
, pp. 527-535
-
-
Huang, K.1
El-Husseini, A.2
-
13
-
-
34447332096
-
-
NCL resources, University College London http://www.ucl.ac.uk/ncl/ cln1.shtml
-
-
-
-
14
-
-
0034903333
-
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease
-
10.1002/ana.1103 11506414
-
van Diggelen OP Thobois S Tilikete C Zabot MT Keulemans JL van Bunderen PA Taschner PE Losekoot M Voznyi YV Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease Ann Neurol 2001 50 2 269-272 10.1002/ ana.1103 11506414
-
(2001)
Ann Neurol
, vol.50
, Issue.2
, 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
-
15
-
-
33846706777
-
Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1
-
10.1212/01.wnl.0000252825.85947.2f 17261688
-
Ramadan H Al-Din AS Ismail A Balen F Varma A Twomey A Watts R Jackson M Anderson G Green E Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1 Neurology 2007 68 5 387-388 10.1212/01.wnl.0000252825.85947.2f 17261688
-
(2007)
Neurology
, vol.68
, Issue.5
, 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
-
16
-
-
0035875063
-
Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis
-
10.1093/hmg/10.13.1431 11440996
-
Das AK Lu JY Hofmann SL Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis Hum Mol Genet 2001 10 13 1431-1439 10.1093/hmg/10.13.1431 11440996
-
(2001)
Hum Mol Genet
, vol.10
, Issue.13
, pp. 1431-1439
-
-
Das, A.K.1
Lu, J.Y.2
Hofmann, S.L.3
-
17
-
-
0034848598
-
Neuronal trafficking of palmitoyl protein thioesterase provides an excellent model to study the effects of different mutations which cause infantile neuronal ceroid lipofuscinocis
-
10.1006/mcne.2001.1010 11520175
-
Salonen T Heinonen-Kopra O Vesa J Jalanko A Neuronal trafficking of palmitoyl protein thioesterase provides an excellent model to study the effects of different mutations which cause infantile neuronal ceroid lipofuscinocis Mol Cell Neurosci 2001 18 2 131-140 10.1006/ mcne.2001.1010 11520175
-
(2001)
Mol Cell Neurosci
, vol.18
, Issue.2
, pp. 131-140
-
-
Salonen, T.1
Heinonen-Kopra, O.2
Vesa, J.3
Jalanko, A.4
-
18
-
-
0035871210
-
Molecular pathogenesis of a disease: Structural consequences of aspartylglucosaminuria mutations
-
10.1093/hmg/10.9.983 11309371
-
Saarela J Laine M Oinonen C Schantz C Jalanko A Rouvinen J Peltonen L Molecular pathogenesis of a disease: Structural consequences of aspartylglucosaminuria mutations Hum Mol Genet 2001 10 9 983-995 10.1093/ hmg/10.9.983 11309371
-
(2001)
Hum Mol Genet
, vol.10
, Issue.9
, pp. 983-995
-
-
Saarela, J.1
Laine, M.2
Oinonen, C.3
Schantz, C.4
Jalanko, A.5
Rouvinen, J.6
Peltonen, L.7
-
19
-
-
0034712969
-
The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis
-
18274 10781062 10.1073/pnas.080508097
-
Bellizzi JJ 3 Widom J Kemp C Lu JY Das AK Hofmann SL Clardy J The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis Proc Natl Acad Sci USA 2000 97 9 4573-4578 18274 10781062 10.1073/pnas.080508097
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, Issue.9
, pp. 4573-4578
-
-
Bellizzi III, J.J.1
Widom, J.2
Kemp, C.3
Lu, J.Y.4
Das, A.K.5
Hofmann, S.L.6
Clardy, J.7
-
20
-
-
0031696226
-
Mouse palmitoyl protein thioesterase: Gene structure and expression of cDNA
-
310755 9685319
-
Salonen T Hellsten E Horelli-Kuitunen N Peltonen L Jalanko A Mouse palmitoyl protein thioesterase: Gene structure and expression of cDNA Genome Res 1998 8 7 724-730 310755 9685319
-
(1998)
Genome Res
, vol.8
, Issue.7
, pp. 724-730
-
-
Salonen, T.1
Hellsten, E.2
Horelli-Kuitunen, N.3
Peltonen, L.4
Jalanko, A.5
-
21
-
-
0026656815
-
Exhaustive matching of the entire protein sequence database
-
10.1126/science.1604319 1604319
-
Gonnet GH Cohen MA Benner SA Exhaustive matching of the entire protein sequence database Science 1992 256 5062 1443-1445 10.1126/ science.1604319 1604319
-
(1992)
Science
, vol.256
, Issue.5062
, pp. 1443-1445
-
-
Gonnet, G.H.1
Cohen, M.A.2
Benner, S.A.3
-
22
-
-
0032770135
-
The expression of palmitoyl-protein thioesterase is developmentally regulated in neural tissues but not in nonneural tissues
-
10.1006/mgme.1999.2839 10191117
-
Suopanki J Tyynela J Baumann M Haltia M The expression of palmitoyl-protein thioesterase is developmentally regulated in neural tissues but not in nonneural tissues Mol Genet Metab 1999 66 4 290-293 10.1006/mgme.1999.2839 10191117
-
(1999)
Mol Genet Metab
, vol.66
, Issue.4
, pp. 290-293
-
-
Suopanki, J.1
Tyynela, J.2
Baumann, M.3
Haltia, M.4
-
23
-
-
0032190248
-
Expression and endocytosis of lysosomal aspartylglucosaminidase in mouse primary neurons
-
9742145
-
Kyttala A Heinonen O Peltonen L Jalanko A Expression and endocytosis of lysosomal aspartylglucosaminidase in mouse primary neurons J Neurosci 1998 18 19 7750-7756 9742145
-
(1998)
J Neurosci
, vol.18
, Issue.19
, pp. 7750-7756
-
-
Kyttala, A.1
Heinonen, O.2
Peltonen, L.3
Jalanko, A.4
-
24
-
-
0029936212
-
Functional analyses of active site residues of human lysosomal aspartylglucosaminidase: Implications for catalytic mechanism and autocatalytic activation
-
450236 8670796
-
Tikkanen R Riikonen A Oinonen C Rouvinen R Peltonen L Functional analyses of active site residues of human lysosomal aspartylglucosaminidase: Implications for catalytic mechanism and autocatalytic activation Embo J 1996 15 12 2954-2960 450236 8670796
-
(1996)
Embo J
, vol.15
, Issue.12
, pp. 2954-2960
-
-
Tikkanen, R.1
Riikonen, A.2
Oinonen, C.3
Rouvinen, R.4
Peltonen, L.5
-
25
-
-
0028786346
-
Three-dimensional structure of human lysosomal aspartylglucosaminidase
-
10.1038/nsb1295-1102 8846222
-
Oinonen C Tikkanen R Rouvinen J Peltonen L Three-dimensional structure of human lysosomal aspartylglucosaminidase Nat Struct Biol 1995 2 12 1102-1108 10.1038/nsb1295-1102 8846222
-
(1995)
Nat Struct Biol
, vol.2
, Issue.12
, pp. 1102-1108
-
-
Oinonen, C.1
Tikkanen, R.2
Rouvinen, J.3
Peltonen, L.4
-
26
-
-
9744254471
-
Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway
-
10.1093/hmg/ddh321 15471887
-
Luiro K Yliannala K Ahtiainen L Maunu H Jarvela I Kyttala A Jalanko A Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway Hum Mol Genet 2004 13 23 3017-3027 10.1093/hmg/ddh321 15471887
-
(2004)
Hum Mol Genet
, vol.13
, Issue.23
, pp. 3017-3027
-
-
Luiro, K.1
Yliannala, K.2
Ahtiainen, L.3
Maunu, H.4
Jarvela, I.5
Kyttala, A.6
Jalanko, A.7
-
27
-
-
12144291655
-
APECED-causing mutations in AIRE reveal the functional domains of the protein
-
10.1002/humu.20003 14974083
-
Halonen M Kangas H Ruppell T Ilmarinen T Ollila J Kolmer M Vihinen M Palvimo J Saarela J Ulmanen I APECED-causing mutations in AIRE reveal the functional domains of the protein Hum Mutat 2004 23 3 245-257 10.1002/humu.20003 14974083
-
(2004)
Hum Mutat
, vol.23
, Issue.3
, pp. 245-257
-
-
Halonen, M.1
Kangas, H.2
Ruppell, T.3
Ilmarinen, T.4
Ollila, J.5
Kolmer, M.6
Vihinen, M.7
Palvimo, J.8
Saarela, J.9
Ulmanen, I.10
-
28
-
-
0031985964
-
Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease
-
10.1093/hmg/7.1.85 9384607
-
Jarvela I Sainio M Rantamaki T Olkkonen V Carpen O Peltonen L Jalanko A Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease Hum Mol Genet 1998 7 1 85-90 10.1093/hmg/7.1.85 9384607
-
(1998)
Hum Mol Genet
, vol.7
, Issue.1
, pp. 85-90
-
-
Jarvela, I.1
Sainio, M.2
Rantamaki, T.3
Olkkonen, V.4
Carpen, O.5
Peltonen, L.6
Jalanko, A.7
-
29
-
-
0034925202
-
Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2)
-
10.1053/ejpn.2000.0460 11588995
-
Van Diggelen OP Keulemans JL Kleijer WJ Thobois S Tilikete C Voznyi YV Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2) Eur J Paediatr Neurol 2001 5 Suppl A 189-192 10.1053/ejpn.2000.0460 11588995
-
(2001)
Eur J Paediatr Neurol
, vol.5
, Issue.SUPPL. A
, pp. 189-192
-
-
Van Diggelen, O.P.1
Keulemans, J.L.2
Kleijer, W.J.3
Thobois, S.4
Tilikete, C.5
Voznyi, Y.V.6
-
30
-
-
12544251543
-
Studies on the N-glycosylation of the subunits of oligosaccharyl transferase in Saccharomyces cerevisiae
-
10.1074/jbc.M410969200 15507441
-
Li G Yan Q Nita-Lazar A Haltiwanger RS Lennarz WJ Studies on the N-glycosylation of the subunits of oligosaccharyl transferase in Saccharomyces cerevisiae J Biol Chem 2005 280 3 1864-1871 10.1074/ jbc.M410969200 15507441
-
(2005)
J Biol Chem
, vol.280
, Issue.3
, pp. 1864-1871
-
-
Li, G.1
Yan, Q.2
Nita-Lazar, A.3
Haltiwanger, R.S.4
Lennarz, W.J.5
-
31
-
-
1542752195
-
Aspartylglucosaminidase (AGA) is efficiently produced and endocytosed by glial cells: Implication for the therapy of a lysosomal storage disorder
-
10.1002/jgm.377 12797112
-
Harkke S Laine M Jalanko A Aspartylglucosaminidase (AGA) is efficiently produced and endocytosed by glial cells: Implication for the therapy of a lysosomal storage disorder J Gene Med 2003 5 6 472-482 10.1002/jgm.377 12797112
-
(2003)
J Gene Med
, vol.5
, Issue.6
, pp. 472-482
-
-
Harkke, S.1
Laine, M.2
Jalanko, A.3
-
32
-
-
10044265192
-
Bone marrow transplantation in young aspartylglucosaminuria mice: Improved clearance of lysosomal storage in brain by using wild type as compared to heterozygote donors
-
15489878
-
Laine M Ahtiainen L Rapola J Richter J Jalanko A Bone marrow transplantation in young aspartylglucosaminuria mice: Improved clearance of lysosomal storage in brain by using wild type as compared to heterozygote donors Bone Marrow Transplant 2004 15489878
-
(2004)
Bone Marrow Transplant
-
-
Laine, M.1
Ahtiainen, L.2
Rapola, J.3
Richter, J.4
Jalanko, A.5
-
33
-
-
33745281681
-
Use of nonviral promoters in adenovirus-mediated gene therapy: Reduction of lysosomal storage in the aspartylglucosaminuria mouse
-
10.1002/jgm.892 16518877
-
Virta S Rapola J Jalanko A Laine M Use of nonviral promoters in adenovirus-mediated gene therapy: Reduction of lysosomal storage in the aspartylglucosaminuria mouse J Gene Med 2006 8 6 699-706 10.1002/jgm.892 16518877
-
(2006)
J Gene Med
, vol.8
, Issue.6
, pp. 699-706
-
-
Virta, S.1
Rapola, J.2
Jalanko, A.3
Laine, M.4
-
34
-
-
2342551124
-
Effective treatment of alpha-mannosidosis by allogeneic hematopoietic stem cell transplantation
-
10.1016/j.jpeds.2004.01.025 15126988
-
Grewal SS Shapiro EG Krivit W Charnas L Lockman LA Delaney KA Davies SM Wenger DA Rimell FL Abel S Effective treatment of alpha-mannosidosis by allogeneic hematopoietic stem cell transplantation J Pediatr 2004 144 5 569-573 10.1016/j.jpeds.2004.01.025 15126988
-
(2004)
J Pediatr
, vol.144
, Issue.5
, pp. 569-573
-
-
Grewal, S.S.1
Shapiro, E.G.2
Krivit, W.3
Charnas, L.4
Lockman, L.A.5
Delaney, K.A.6
Davies, S.M.7
Wenger, D.A.8
Rimell, F.L.9
Abel, S.10
-
35
-
-
14844284635
-
Effective gene therapy for an inherited CNS disease in a large animal model
-
10.1002/ana.20392 15732095
-
Vite CH McGowan JC Niogi SN Passini MA Drobatz KJ Haskins ME Wolfe JH Effective gene therapy for an inherited CNS disease in a large animal model Ann Neurol 2005 57 3 355-364 10.1002/ana.20392 15732095
-
(2005)
Ann Neurol
, vol.57
, Issue.3
, pp. 355-364
-
-
Vite, C.H.1
McGowan, J.C.2
Niogi, S.N.3
Passini, M.A.4
Drobatz, K.J.5
Haskins, M.E.6
Wolfe, J.H.7
-
36
-
-
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
-
10.1016/j.nbd.2004.03.005 15193292
-
Griffey M Bible E Vogler C Levy B Gupta P Cooper J Sands MS 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 2004 16 2 360-369 10.1016/ j.nbd.2004.03.005 15193292
-
(2004)
Neurobiol Dis
, vol.16
, Issue.2
, 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
-
37
-
-
23844491693
-
AAV2-mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis
-
10.1016/j.ymthe.2005.04.018 15979943
-
Griffey M Macauley SL Ogilvie JM Sands MS AAV2-mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis Mol Ther 2005 12 3 413-421 10.1016/j.ymthe.2005.04.018 15979943
-
(2005)
Mol Ther
, vol.12
, Issue.3
, pp. 413-421
-
-
Griffey, M.1
Macauley, S.L.2
Ogilvie, J.M.3
Sands, M.S.4
-
38
-
-
32944454332
-
CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of infantile neuronal ceroid lipofuscinosis
-
10.1016/j.ymthe.2005.11.008 16364693
-
Griffey MA Wozniak D Wong M Bible E Johnson K Rothman SM Wentz AE Cooper JD Sands MS CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of infantile neuronal ceroid lipofuscinosis Mol Ther 2006 13 3 538-547 10.1016/j.ymthe.2005.11.008 16364693
-
(2006)
Mol Ther
, vol.13
, Issue.3
, 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
-
39
-
-
0036326358
-
Neuronal Ceroid Lipofuscinoses Are Connected at Molecular Level: Interaction of CLN5 Protein with CLN2 and CLN3
-
117323 12134079 10.1091/mbc.E02-01-0031
-
Vesa J Chin MH Oelgeschlager K Isosomppi J DellAngelica EC Jalanko A Peltonen L Neuronal Ceroid Lipofuscinoses Are Connected at Molecular Level: Interaction of CLN5 Protein with CLN2 and CLN3 Mol Biol Cell 2002 13 7 2410-2420 117323 12134079 10.1091/mbc.E02-01-0031
-
(2002)
Mol Biol Cell
, vol.13
, Issue.7
, pp. 2410-2420
-
-
Vesa, J.1
Chin, M.H.2
Oelgeschlager, K.3
Isosomppi, J.4
DellAngelica, E.C.5
Jalanko, A.6
Peltonen, L.7
-
40
-
-
2542482500
-
Defective Endoplasmic Reticulum-resident Membrane Protein CLN6 Affects Lysosomal Degradation of Endocytosed Arylsulfatase A
-
10.1074/jbc.M400643200 15010453
-
Heine C Koch B Storch S Kohlschutter A Palmer DN Braulke T Defective Endoplasmic Reticulum-resident Membrane Protein CLN6 Affects Lysosomal Degradation of Endocytosed Arylsulfatase A J Biol Chem 2004 279 21 22347-22352 10.1074/jbc.M400643200 15010453
-
(2004)
J Biol Chem
, vol.279
, Issue.21
, pp. 22347-22352
-
-
Heine, C.1
Koch, B.2
Storch, S.3
Kohlschutter, A.4
Palmer, D.N.5
Braulke, T.6
-
41
-
-
0034435875
-
Crystal structure of the human acyl protein thioesterase I from a single X-ray data set to 1.5 A
-
10.1016/S0969-2126(00)00529-3 11080636
-
Devedjiev Y Dauter Z Kuznetsov SR Jones TL Derewenda ZS Crystal structure of the human acyl protein thioesterase I from a single X-ray data set to 1.5 A Structure Fold Des 2000 8 11 1137-1146 10.1016/ S0969-2126(00)00529-3 11080636
-
(2000)
Structure Fold Des
, vol.8
, Issue.11
, pp. 1137-1146
-
-
Devedjiev, Y.1
Dauter, Z.2
Kuznetsov, S.R.3
Jones, T.L.4
Derewenda, Z.S.5
-
42
-
-
0032527617
-
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S
-
508894 9664077
-
Das AK Becerra CH Yi W Lu JY Siakotos AN Wisniewski KE Hofmann SL Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S J Clin Invest 1998 102 2 361-370 508894 9664077
-
(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
-
43
-
-
0028693585
-
Expression of exogenous proteins in mammalian cells with the Semliki Forest virus vector
-
7529866
-
Olkkonen VM Dupree P Simons K Liljestrom P Garoff H Expression of exogenous proteins in mammalian cells with the Semliki Forest virus vector Methods Cell Biol 1994 43 Pt A 43-53 7529866
-
(1994)
Methods Cell Biol
, vol.43
, Issue.PART A
, pp. 43-53
-
-
Olkkonen, V.M.1
Dupree, P.2
Simons, K.3
Liljestrom, P.4
Garoff, H.5
-
44
-
-
11844286979
-
Mice with Ppt1(Deltaex4) mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons
-
10.1016/j.nbd.2004.08.013 15649713
-
Jalanko A Vesa J Manninen T von Schantz C Minye H Fabritius AL Salonen T Rapola J Gentile M Kopra O Mice with Ppt1(Deltaex4) mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons Neurobiol Dis 2005 18 1 226-241 10.1016/j.nbd.2004.08.013 15649713
-
(2005)
Neurobiol Dis
, vol.18
, Issue.1
, 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
-
45
-
-
0033774798
-
CLN-1 and CLN-5, genes for infantile and variant late infantile neuronal ceroid lipofuscinoses, are expressed in the embryonic human brain
-
10.1002/1096-9861(20001023)426:3<406::AID-CNE5>3.0.CO;2-5 10992246
-
Heinonen O Salonen T Jalanko A Peltonen L Copp A 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 2000 426 3 406-412 10.1002/1096-9861(20001023)426:3<406::AID-CNE5>3.0.CO;2-5 10992246
-
(2000)
J Comp Neurol
, vol.426
, Issue.3
, pp. 406-412
-
-
Heinonen, O.1
Salonen, T.2
Jalanko, A.3
Peltonen, L.4
Copp, A.5
-
46
-
-
0018247640
-
Biochemical transfer of single-copy eucaryotic genes using total cellular DNA as donor
-
10.1016/0092-8674(78)90254-4 210957
-
Wigler M Pellicer A Silverstein S Axel R Biochemical transfer of single-copy eucaryotic genes using total cellular DNA as donor Cell 1978 14 3 725-731 10.1016/0092-8674(78)90254-4 210957
-
(1978)
Cell
, vol.14
, Issue.3
, pp. 725-731
-
-
Wigler, M.1
Pellicer, A.2
Silverstein, S.3
Axel, R.4
-
47
-
-
0027244942
-
Giantin, a novel conserved Golgi membrane protein containing a cytoplasmic domain of at least 350 kDa
-
300978 7691276
-
Linstedt AD Hauri HP Giantin, a novel conserved Golgi membrane protein containing a cytoplasmic domain of at least 350 kDa Mol Biol Cell 1993 4 7 679-693 300978 7691276
-
(1993)
Mol Biol Cell
, vol.4
, Issue.7
, pp. 679-693
-
-
Linstedt, A.D.1
Hauri, H.P.2
-
48
-
-
0031788218
-
Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and total correction in liver of aspartylglucosaminuria (AGU) mouse
-
10.1038/sj.gt.3300740 9930336
-
Peltola M Kyttala A Heinonen O Rapola J Paunio T Revah F Peltonen L Jalanko A Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and total correction in liver of aspartylglucosaminuria (AGU) mouse Gene Ther 1998 5 10 1314-1321 10.1038/ sj.gt.3300740 9930336
-
(1998)
Gene Ther
, vol.5
, Issue.10
, pp. 1314-1321
-
-
Peltola, M.1
Kyttala, A.2
Heinonen, O.3
Rapola, J.4
Paunio, T.5
Revah, F.6
Peltonen, L.7
Jalanko, A.8
-
49
-
-
0025730688
-
Human leucocyte aspartylglucosaminidase. Evidence for two different subunits in a more complex native structure
-
1151172 2039475
-
Halila R Baumann M Ikonen E Enomaa N Peltonen L Human leucocyte aspartylglucosaminidase. Evidence for two different subunits in a more complex native structure Biochem J 1991 276 Pt 1 251-256 1151172 2039475
-
(1991)
Biochem J
, vol.276
, Issue.PART 1
, pp. 251-256
-
-
Halila, R.1
Baumann, M.2
Ikonen, E.3
Enomaa, N.4
Peltonen, L.5
-
50
-
-
0029998354
-
Ser72Pro active-site disease mutation in human lysosomal aspartylglucosaminidase: Abnormal intracellular processing and evidence for extracellular activation
-
10.1093/hmg/5.6.737 8776587
-
Peltola M Tikkanen R Peltonen L Jalanko A Ser72Pro active-site disease mutation in human lysosomal aspartylglucosaminidase: Abnormal intracellular processing and evidence for extracellular activation Hum Mol Genet 1996 5 5 737-743 10.1093/hmg/5.6.737 8776587
-
(1996)
Hum Mol Genet
, vol.5
, Issue.5
, pp. 737-743
-
-
Peltola, M.1
Tikkanen, R.2
Peltonen, L.3
Jalanko, A.4
-
51
-
-
0032807058
-
A rapid fluorogenic palmitoyl-protein thioesterase assay: Pre- and postnatal diagnosis of INCL
-
10.1006/mgme.1999.2809 10191108
-
van Diggelen OP Keulemans JL Winchester B Hofman IL Vanhanen SL Santavuori P Voznyi YV A rapid fluorogenic palmitoyl-protein thioesterase assay: Pre- and postnatal diagnosis of INCL Mol Genet Metab 1999 66 4 240-244 10.1006/mgme.1999.2809 10191108
-
(1999)
Mol Genet Metab
, vol.66
, Issue.4
, 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
-
52
-
-
6844237002
-
Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits
-
10.1093/hmg/7.2.291 9425237
-
Mitchison HM Hofmann SL Becerra CH Munroe PB Lake BD Crow YJ Stephenson JB Williams RE Hofman IL Taschner PE Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits Hum Mol Genet 1998 7 2 291-297 10.1093/hmg/7.2.291 9425237
-
(1998)
Hum Mol Genet
, vol.7
, Issue.2
, pp. 291-297
-
-
Mitchison, H.M.1
Hofmann, S.L.2
Becerra, C.H.3
Munroe, P.B.4
Lake, B.D.5
Crow, Y.J.6
Stephenson, J.B.7
Williams, R.E.8
Hofman, I.L.9
Taschner, P.E.10
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