-
1
-
-
0023917534
-
Neuronal ceroid-lipofuscinosis in childhood
-
Santavuori, P. (1998) Neuronal ceroid-lipofuscinosis in childhood. Brain Dev., 10, 80-83.
-
(1998)
Brain Dev.
, vol.10
, pp. 80-83
-
-
Santavuori, P.1
-
2
-
-
0032427786
-
Batten disease: Four genes and still counting
-
Mole, S.E. (1998) Batten disease: four genes and still counting. Neurobiol. Dis., 5, 287-303.
-
(1998)
Neurobiol. Dis.
, vol.5
, pp. 287-303
-
-
Mole, S.E.1
-
3
-
-
0029147298
-
Isolation of a novel gene underlying Batten disease, CLN3
-
The international Batten Disease Consortium (1995) Isolation of a novel gene underlying Batten disease, CLN3, Cell, 82, 949-957.
-
(1995)
Cell
, vol.82
, pp. 949-957
-
-
-
4
-
-
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., Hoffman, S.L. and 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
Hoffman, S.L.7
Peltonen, L.8
-
5
-
-
0030866233
-
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis
-
Sleat, D.E., Donnelly, R.J., Lackland, H., Liu, C.G., Sohar, I., Putlarkat, R.K. and 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
Putlarkat, R.K.6
Lobel, P.7
-
6
-
-
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, E.S. and Peltonen, L. (1998) CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nature Genet., 19, 286-288.
-
(1998)
Nature 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
-
7
-
-
0032831071
-
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8
-
Ranta, S., Yonghui, Z., Ross, B., Lonka, L., Takkunen, E., Messer, A., Sharp, J., Wheeler, R., Kusumi, K., Mole, S. et al (1999) The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nature Genet., 23, 233-236.
-
(1999)
Nature Genet.
, vol.23
, pp. 233-236
-
-
Ranta, S.1
Yonghui, Z.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
-
8
-
-
0031985964
-
Biosynthesis and intracellular targeting of the CLN3 protein detective in Batten disease
-
Järvelä, I., Sainio, M., Rantamäki, T., Olkkonen V.M., Carpen, O., Peltonen, L. and Jalanko A. (1998) Biosynthesis and intracellular targeting of the CLN3 protein detective in Batten disease. Hum. Mol. Genet., 7, 85-90.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 85-90
-
-
Järvelä, I.1
Sainio, M.2
Rantamäki, T.3
Olkkonen, V.M.4
Carpen, O.5
Peltonen, L.6
Jalanko, A.7
-
9
-
-
0032838468
-
Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5
-
Mole, S.E., Mitchison, H.M. and Munroe, P.B. (1999) Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5. Hum. Mutat., 14, 199-215.
-
(1999)
Hum. Mutat.
, vol.14
, pp. 199-215
-
-
Mole, S.E.1
Mitchison, H.M.2
Munroe, P.B.3
-
10
-
-
0034112242
-
Northern epilepsy: A novel form of neuronal ceroid-lipofuscinosis
-
Herva, R., Tyynelä, J., Hirvasniemi, A., Syrjäkallio-Ylitalo, M. and Haltia, M. (2000) Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis. Brain Pathol. 10, 215-222.
-
(2000)
Brain Pathol.
, vol.10
, pp. 215-222
-
-
Herva, R.1
Tyynelä, J.2
Hirvasniemi, A.3
Syrjäkallio-Ylitalo, M.4
Haltia, M.5
-
11
-
-
0028345785
-
Northern epilepsy syndrome: An inherited childhood onset epilepsy with associated mental deterioration
-
Hirvasniemi, A., Lang, H., Lehesjoki, A.-E. and Leisti, J. (1994) Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration. J. Med. Genet., 31, 177-182.
-
(1994)
J. Med. Genet.
, vol.31
, pp. 177-182
-
-
Hirvasniemi, A.1
Lang, H.2
Lehesjoki, A.-E.3
Leisti, J.4
-
12
-
-
0027453099
-
Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease)
-
Bronson, R.T., Lake, B.D., Cook, S., Taylor, S. and Davisson, M.T. (1993) Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease). Ann. Neurol., 33, 381-385.
-
(1993)
Ann. Neurol.
, vol.33
, pp. 381-385
-
-
Bronson, R.T.1
Lake, B.D.2
Cook, S.3
Taylor, S.4
Davisson, M.T.5
-
13
-
-
0022976796
-
Autosomal dominance in a late-onset motor neuron disease in the mouse
-
Messer, A. and Flaherty, L. (1986) Autosomal dominance in a late-onset motor neuron disease in the mouse. J. Neurogenet., 3, 345-355.
-
(1986)
J. Neurogenet.
, vol.3
, pp. 345-355
-
-
Messer, A.1
Flaherty, L.2
-
14
-
-
0029049639
-
Genetics of primary and timing effects in the mnd mouse
-
Messer, A., Plummer, J., MacMillen, M.C. and Frankel, W.N. (1995) Genetics of primary and timing effects in the mnd mouse. Am. J. Med. Genet., 57, 361-364.
-
(1995)
Am. J. Med. Genet.
, vol.57
, pp. 361-364
-
-
Messer, A.1
Plummer, J.2
Macmillen, M.C.3
Frankel, W.N.4
-
15
-
-
0025184422
-
Identification of a consensus motif for retention of transmembrane proteins in the endoplasmic reticulum
-
Jackson, M.R., Nilsson, T. and Peterson, P.A. (1990) Identification of a consensus motif for retention of transmembrane proteins in the endoplasmic reticulum. EMBO J., 9, 3153-3162.
-
(1990)
EMBO J.
, vol.9
, pp. 3153-3162
-
-
Jackson, M.R.1
Nilsson, T.2
Peterson, P.A.3
-
16
-
-
0028181745
-
Coatomer interaction with di-lysine endoplasmic reticulum retention motifs
-
Cosson, P. and Letourneur, F. (1994) Coatomer interaction with di-lysine endoplasmic reticulum retention motifs. Science, 263, 1629-1631.
-
(1994)
Science
, vol.263
, pp. 1629-1631
-
-
Cosson, P.1
Letourneur, F.2
-
17
-
-
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, V.M., Jalanko, A. and 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
-
18
-
-
0030009044
-
Lysosomal targeting of palmitoyl-protein thioesterase
-
Verkruyse, L.A. and Hofmann, S.L. (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
Hofmann, S.L.2
-
19
-
-
0029788513
-
Lipid thioesters derived from acylated proteins accumulate in infantile neuronal lipofuscinosis: Correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase
-
Lu, J.Y., Verkruyse, L.A. and Hofmann, S.L. (1996) Lipid thioesters derived from acylated proteins accumulate in infantile neuronal lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase. Proc. Natl. Acad. Sci. USA, 93, 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
-
20
-
-
0033052570
-
Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I
-
Vines, D.J. and Warburton, M.J. (1999) Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I. FEBS Lett., 433, 131-135.
-
(1999)
FEBS Lett.
, vol.433
, pp. 131-135
-
-
Vines, D.J.1
Warburton, M.J.2
-
21
-
-
0032897884
-
Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis
-
Rawlings, N.D. and Barrett, A.J. (1999) Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis. Biochim. Biophys. Acta, 2, 496-500.
-
(1999)
Biochim. Biophys. Acta
, vol.2
, pp. 496-500
-
-
Rawlings, N.D.1
Barrett, A.J.2
-
22
-
-
0344867852
-
Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)
-
Järvelä, I., Lehtovirta, M., Tikkanen, R., Kyttälä, A. and Jalanko, A. (1999) Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL). Hum. Mol. Genet., 8, 1091-1098.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1091-1098
-
-
Järvelä, I.1
Lehtovirta, M.2
Tikkanen, R.3
Kyttälä, A.4
Jalanko, A.5
-
23
-
-
0033963467
-
Localization and processing of CLN3, the protein associated to Batten disease: Where is it and what does it do
-
Pearce, D.A. (2000) Localization and processing of CLN3, the protein associated to Batten disease: where is it and what does it do? J. Neurosci. Res., 1, 19-23.
-
(2000)
J. Neurosci. Res.
, vol.1
, pp. 19-23
-
-
Pearce, D.A.1
-
24
-
-
0028233498
-
COPII: A membrane coat formed by sec proteins that drive vesicle budding from the endoplasmic reticulum
-
Barlowe, C., Orci, L., Yeung, T., Hosobuchi, M., Hamamoto, S., Salama, N., Rexach, M.F., Ravazzola, M., Amherdt, M. and Schekman, R. (1994) COPII: a membrane coat formed by sec proteins that drive vesicle budding from the endoplasmic reticulum. Cell, 77, 895-907.
-
(1994)
Cell
, vol.77
, pp. 895-907
-
-
Barlowe, C.1
Orci, L.2
Yeung, T.3
Hosobuchi, M.4
Hamamoto, S.5
Salama, N.6
Rexach, M.F.7
Ravazzola, M.8
Amherdt, M.9
Schekman, R.10
-
25
-
-
0032516855
-
COPII and selective export from the endoplasmic reticulum
-
Barlowe C. (1998) COPII and selective export from the endoplasmic reticulum. Biochim. Biophys. Acta, 1404, 67-76.
-
(1998)
Biochim. Biophys. Acta
, vol.1404
, pp. 67-76
-
-
Barlowe, C.1
-
26
-
-
0030760897
-
Coatomer (COPI)-coated vesicles: Role in intracellular transport and protein sorting
-
Cosson, P. and Letourneur, F. (1997) Coatomer (COPI)-coated vesicles: role in intracellular transport and protein sorting. Curr. Opin. Cell Biol., 9, 484-487.
-
(1997)
Curr. Opin. Cell Biol.
, vol.9
, pp. 484-487
-
-
Cosson, P.1
Letourneur, F.2
-
27
-
-
0028643562
-
Coatomer is essential for retrieval of dilysine-tagged proteins to the endoplasmic reticulum
-
Letourneur, F., Gaynor, E.C., Hennecke, S., Demolliere, C., Duden, R., Emr, S.D., Riezman, H. and Cosson, P. (1994) Coatomer is essential for retrieval of dilysine-tagged proteins to the endoplasmic reticulum. Cell, 79, 1199-1207.
-
(1994)
Cell
, vol.79
, pp. 1199-1207
-
-
Letourneur, F.1
Gaynor, E.C.2
Hennecke, S.3
Demolliere, C.4
Duden, R.5
Emr, S.D.6
Riezman, H.7
Cosson, P.8
-
28
-
-
0033591357
-
Protein targeting to endoplasmic reticulum by dilysine signals involves direct retention in addition to retrieval
-
Andersson, H., Kappeler, F. and Hauri, H.P. (1999) Protein targeting to endoplasmic reticulum by dilysine signals involves direct retention in addition to retrieval. J. Biol. Chem., 274, 15080-15084.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 15080-15084
-
-
Andersson, H.1
Kappeler, F.2
Hauri, H.P.3
-
29
-
-
0032559651
-
gp25L/emp24/p24 protein family members of the cis-Golgi network bind both COP I and II coatomer
-
Dominguez, M., Dejgaard, K., Füllekrug, J., Dahan, S., Fazel, A., Paccaud, J.-P., Thomas, D.Y., Bergeron, J.J.M. and Nilsson, T. (1998) gp25L/emp24/p24 protein family members of the cis-Golgi network bind both COP I and II coatomer. J. Cell Biol., 140, 751-765.
-
(1998)
J. Cell Biol.
, vol.140
, pp. 751-765
-
-
Dominguez, M.1
Dejgaard, K.2
Füllekrug, J.3
Dahan, S.4
Fazel, A.5
Paccaud, J.-P.6
Thomas, D.Y.7
Bergeron, J.J.M.8
Nilsson, T.9
-
30
-
-
0033052069
-
Out of the ER - Outfitters, escorts and guides
-
Herrmann, J.M., Malkus, P. and Schekman, R. (1999) Out of the ER - outfitters, escorts and guides. Trends Cell Biol., 9, 5-7.
-
(1999)
Trends Cell Biol.
, vol.9
, pp. 5-7
-
-
Herrmann, J.M.1
Malkus, P.2
Schekman, R.3
-
31
-
-
0034054716
-
ERGIC-53 and traffic in the secretory pathway
-
Hauri, H.-P., Kappeler, F., Andersson, H. and Appenzeller, C. (2000) ERGIC-53 and traffic in the secretory pathway. J. Cell Sci., 113, 587-596.
-
(2000)
J. Cell Sci.
, vol.113
, pp. 587-596
-
-
Hauri, H.-P.1
Kappeler, F.2
Andersson, H.3
Appenzeller, C.4
-
32
-
-
13344282063
-
Alzheimer-associated presenilins 1 and 2: Neuronal expression in brain and localization to intracellular membranes in mammalian cells
-
Kovacs, D.M., Fausett, H.J., Page, K.J., Kim, T.-W., Moir, R.D., Merriam, D.E., Hollister, R.D., Hallmark, O.G., Mancini, R., Felsenstein, K.M. et al. (1996) Alzheimer-associated presenilins 1 and 2: Neuronal expression in brain and localization to intracellular membranes in mammalian cells. Nature Med., 2, 224-229.
-
(1996)
Nature Med.
, vol.2
, pp. 224-229
-
-
Kovacs, D.M.1
Fausett, H.J.2
Page, K.J.3
Kim, T.-W.4
Moir, R.D.5
Merriam, D.E.6
Hollister, R.D.7
Hallmark, O.G.8
Mancini, R.9
Felsenstein, K.M.10
-
33
-
-
0030923412
-
Alzheimer's disease-associated presenilin 1 in neuronal cells: Evidence for localization to the endoplasmic reticulum-Golgi intermediate compartment
-
Culvenor, J.G., Maher, F., Evin, G., Malchiodi-Albedi, F., Cappai, R., Underwood, J.R., Davis, J.B., Karran, E.H., Roberts, G.W., Beyreuther, K. and Masters, C.L. (1997) Alzheimer's disease-associated presenilin 1 in neuronal cells: evidence for localization to the endoplasmic reticulum-Golgi intermediate compartment. J. Neurosci. Res., 49, 719-731.
-
(1997)
J. Neurosci. Res.
, vol.49
, pp. 719-731
-
-
Culvenor, J.G.1
Maher, F.2
Evin, G.3
Malchiodi-Albedi, F.4
Cappai, R.5
Underwood, J.R.6
Davis, J.B.7
Karran, E.H.8
Roberts, G.W.9
Beyreuther, K.10
Masters, C.L.11
-
34
-
-
0032478548
-
Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII
-
Nichols, W.C., Seligsohn, U., Zivelin, A., Terry, V.H., Hertel, C.E., Wheatley, M.A., Moussalli, M.J., Hauri, H.P., Ciavarella, N., Kaufman, R.J. and Ginsburg, D. (1998) Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. Cell, 93, 61-70.
-
(1998)
Cell
, vol.93
, pp. 61-70
-
-
Nichols, W.C.1
Seligsohn, U.2
Zivelin, A.3
Terry, V.H.4
Hertel, C.E.5
Wheatley, M.A.6
Moussalli, M.J.7
Hauri, H.P.8
Ciavarella, N.9
Kaufman, R.J.10
Ginsburg, D.11
-
35
-
-
0033958665
-
Alzheimer's presenilin 1 is a putative membrane receptor for rab GDP dissociation inhibitor
-
Scheper, W., Zwart, R., van der Sluijs, P., Annaert, W., van Gool, W.A. and Baas, F. (2000) Alzheimer's presenilin 1 is a putative membrane receptor for rab GDP dissociation inhibitor. Hum. Mol. Genet., 9, 303-310.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 303-310
-
-
Scheper, W.1
Zwart, R.2
Van Der Sluijs, P.3
Annaert, W.4
Van Gool, W.A.5
Baas, F.6
-
36
-
-
0345465663
-
Integration of endoplasmic reticulum signaling in health and disease
-
Aridor, M. and Balch, W.E. (1999) Integration of endoplasmic reticulum signaling in health and disease. Nature Med., 5, 745-751.
-
(1999)
Nature Med.
, vol.5
, pp. 745-751
-
-
Aridor, M.1
Balch, W.E.2
-
37
-
-
0025268284
-
SVpoly: A versatile mammalian expression vector
-
Stacey, A. and Schnieke, A. (1990) SVpoly: a versatile mammalian expression vector. Nucleic Acids Res., 18, 2829.
-
(1990)
Nucleic Acids Res.
, vol.18
, pp. 2829
-
-
Stacey, A.1
Schnieke, A.2
-
38
-
-
0019884568
-
Glucocorticoids regulate expression of dihydrofolate reductase cDNA in mouse mammary tumor virus cimeric plasmids
-
Lee, F., Mulligan, R., Berg, P. and Ringold, G. (1981) Glucocorticoids regulate expression of dihydrofolate reductase cDNA in mouse mammary tumor virus cimeric plasmids. Nature, 294, 228-232.
-
(1981)
Nature
, vol.294
, pp. 228-232
-
-
Lee, F.1
Mulligan, R.2
Berg, P.3
Ringold, G.4
-
39
-
-
0014949207
-
Cleavage of structural proteins during the assembly of the head of bacteriophage T4
-
Laemmli, U.K. (1970) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature, 227, 680-685.
-
(1970)
Nature
, vol.227
, pp. 680-685
-
-
Laemmli, U.K.1
|