-
1
-
-
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
-
-
-
2
-
-
0030610043
-
Cross-species homology of the CLN3 gene
-
Taschner, P.E., de Vos, N. and Breuning, M.H. (1997) Cross-species homology of the CLN3 gene. Neuropediatrics, 28, 18-20.
-
(1997)
Neuropediatrics
, vol.28
, pp. 18-20
-
-
Taschner, P.E.1
De Vos, N.2
Breuning, M.H.3
-
3
-
-
0031985964
-
Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease
-
Järvelä, I., Sainio, M., Rantamäki, T., Olkkonen, V.M., Carpén, O., Peltonen, L. and Jalanko, A. (1998) Biosynthesis and intracellular targeting of the CLN3 protein defective 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
Carpén, O.5
Peltonen, L.6
Jalanko, A.7
-
4
-
-
0032544574
-
The subcellular location of the yeast Saccharomyces cerevisiae homologue of the protein defective in the juvenile form of Batten disease
-
Croopnick, J.B., Choi, H.C. and Mueller, D.M. (1998) The subcellular location of the yeast Saccharomyces cerevisiae homologue of the protein defective in the juvenile form of Batten disease. Biochem. Biophys. Res. Commun., 250, 335-341.
-
(1998)
Biochem. Biophys. Res. Commun.
, vol.250
, pp. 335-341
-
-
Croopnick, J.B.1
Choi, H.C.2
Mueller, D.M.3
-
5
-
-
0032905252
-
Action of Btnlp, the yeast ortholog of the human Batten disease gene
-
Pearce, D.A., Ferea, T., Nosel, S.A., Das, B. and Sherman, F. (1999) Action of Btnlp, the yeast ortholog of the human Batten disease gene. Nature Genet., 22, 55-58.
-
(1999)
Nature Genet.
, vol.22
, pp. 55-58
-
-
Pearce, D.A.1
Ferea, T.2
Nosel, S.A.3
Das, B.4
Sherman, F.5
-
6
-
-
0032499745
-
A yeast model for the study of Batten disease
-
Pearce, D.A. and Sherman, F. (1998) A yeast model for the study of Batten disease. Proc. Natl Acad. Sci. USA, 95, 6915-6918.
-
(1998)
Proc. Natl Acad. Sci. USA
, vol.95
, pp. 6915-6918
-
-
Pearce, D.A.1
Sherman, F.2
-
7
-
-
16944364280
-
Spectrum of mutations in the Batten disease gene, CLN3
-
Munroe, P.B., Mitchison, H.M., O'Rawe, A.M., Anderson, J.W., Boustany, R.-M., Lerner, T.J., Taschner, P.E.M., de Vos, N., Breuning, M.H., Gardiner, R.M. and Mole, S.E. (1997) Spectrum of mutations in the Batten disease gene, CLN3. Am. J. Hum. Genet., 61, 310-316.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 310-316
-
-
Munroe, P.B.1
Mitchison, H.M.2
O'Rawe, A.M.3
Anderson, J.W.4
Boustany, R.-M.5
Lerner, T.J.6
Taschner, P.E.M.7
De Vos, N.8
Breuning, M.H.9
Gardiner, R.M.10
Mole, S.E.11
-
8
-
-
0024196294
-
Clinico-pathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalities
-
Wisniewski, K.E., Rapin, I. and Heaney-Kieras, J. (1988) Clinico-pathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalities. Am. J. Med. Genet., 5(suppl.), 27-46.
-
(1988)
Am. J. Med. Genet.
, vol.5
, Issue.SUPPL.
, pp. 27-46
-
-
Wisniewski, K.E.1
Rapin, I.2
Heaney-Kieras, J.3
-
9
-
-
0024511783
-
2-terminal sequence
-
2-terminal sequence. J. Biol. Chem., 264, 5736-5740.
-
(1989)
J. Biol. Chem.
, vol.264
, pp. 5736-5740
-
-
Palmer, D.N.1
Martinus, R.D.2
Cooper, S.M.3
Midwinte, G.G.4
Reid, J.C.5
Jolly, R.D.6
-
10
-
-
17444450809
-
Molecular screening of Batten disease: Identification of a missense mutation (E295K) in the CLN3 gene
-
Zhong, N., Wisniewski, K.E., Kaczmarski, A.L., Ju, W., Xu, W.M., Kaczmarski, W., Brooks, S.S. and Brown, W.T. (1998) Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. Hum. Genet., 102, 57-62.
-
(1998)
Hum. Genet.
, vol.102
, pp. 57-62
-
-
Zhong, N.1
Wisniewski, K.E.2
Kaczmarski, A.L.3
Ju, W.4
Xu, W.M.5
Kaczmarski, W.6
Brooks, S.S.7
Brown, W.T.8
-
11
-
-
0344867852
-
Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)
-
Järvelä, I., Lehtovirta, M., Tikkanen, R., Kyttala, 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
Kyttala, A.4
Jalanko, A.5
-
12
-
-
0032775997
-
Intracellular trafficking of the JNCL protein CLN3
-
Haskell, R.E., Derksen, T.A. and Davidson, B.L. (1999) Intracellular trafficking of the JNCL protein CLN3. Mol. Genet. Metab., 66, 253-260.
-
(1999)
Mol. Genet. Metab.
, vol.66
, pp. 253-260
-
-
Haskell, R.E.1
Derksen, T.A.2
Davidson, B.L.3
-
13
-
-
0030786568
-
Farnesylation of Batten disease CLN3 protein
-
Pullarkat, R.K. and Morris, G.N. (1997) Farnesylation of Batten disease CLN3 protein. Neuropediatrics, 28, 42-44.
-
(1997)
Neuropediatrics
, vol.28
, pp. 42-44
-
-
Pullarkat, R.K.1
Morris, G.N.2
-
14
-
-
0032798745
-
Studies of membrane association of CLN3 protein
-
Kaczmarski, W., Wisniewski, K.E., Golabek, A., Kaczmarski, A., Kida, E. and Michalewski, M. (1999) Studies of membrane association of CLN3 protein. Mol. Genet. Metab., 66, 261-264.
-
(1999)
Mol. Genet. Metab.
, vol.66
, pp. 261-264
-
-
Kaczmarski, W.1
Wisniewski, K.E.2
Golabek, A.3
Kaczmarski, A.4
Kida, E.5
Michalewski, M.6
-
15
-
-
0032776836
-
Tissue expression and subcellular localization of CLN3, the Batten disease protein
-
Margraf, L.R., Boriack, R.L., Routheut, A.A.J., Cuppen, I., Alhilali, L., Bennett, C.J. and Bennett, M.J. (1999) Tissue expression and subcellular localization of CLN3, the Batten disease protein. Mol. Genet. Metab., 66, 283-289.
-
(1999)
Mol. Genet. Metab.
, vol.66
, pp. 283-289
-
-
Margraf, L.R.1
Boriack, R.L.2
Routheut, A.A.J.3
Cuppen, I.4
Alhilali, L.5
Bennett, C.J.6
Bennett, M.J.7
-
16
-
-
0029084767
-
Biosynthetic transport of a major lysosomal membrane glycoprotein, lamp-1: Convergence of biosynthetic and endocytic pathways occurs at three distinctive points
-
Akasaki, K., Michihara, A., Mibuka, K., Fujiwara, Y. and Tsuji, H. (1995) Biosynthetic transport of a major lysosomal membrane glycoprotein, lamp-1: convergence of biosynthetic and endocytic pathways occurs at three distinctive points. Exp. Cell Res., 220, 464-473.
-
(1995)
Exp. Cell Res.
, vol.220
, pp. 464-473
-
-
Akasaki, K.1
Michihara, A.2
Mibuka, K.3
Fujiwara, Y.4
Tsuji, H.5
-
17
-
-
0030462963
-
Biosynthetic transport of a major lysosome-associated membrane glycoprotein 2, lamp-2: A significant fraction of newly synthethesized lamp-2 is delivered to lysosomes by way of early endosomes
-
Akasaki, K., Michihara, A., Fujiwara, Y., Mibuka, K. and Tsuji, H. (1996) Biosynthetic transport of a major lysosome-associated membrane glycoprotein 2, lamp-2: a significant fraction of newly synthethesized lamp-2 is delivered to lysosomes by way of early endosomes. J. Biochem. (Tokyo), 120, 1088-1094.
-
(1996)
J. Biochem. (Tokyo)
, vol.120
, pp. 1088-1094
-
-
Akasaki, K.1
Michihara, A.2
Fujiwara, Y.3
Mibuka, K.4
Tsuji, H.5
-
18
-
-
0027320760
-
A system for characterizing cellular and molecular events in programmed neuronal cell death
-
Pittman, R.N., Wang, S., DiBenedetto, A.J. and Mills, J.C. (1993) A system for characterizing cellular and molecular events in programmed neuronal cell death. J. Neurosci., 13, 3669-3680.
-
(1993)
J. Neurosci.
, vol.13
, pp. 3669-3680
-
-
Pittman, R.N.1
Wang, S.2
DiBenedetto, A.J.3
Mills, J.C.4
-
19
-
-
0344237032
-
A 38,000-dalton membrane protein (p38) present in synaptic vesicles
-
Jahn, R., Schiebler, W., Ouimet, C. and Greengard, P. (1985) A 38,000-dalton membrane protein (p38) present in synaptic vesicles. Proc. Natl Acad. Sci. USA, 82, 4137-4141.
-
(1985)
Proc. Natl Acad. Sci. USA
, vol.82
, pp. 4137-4141
-
-
Jahn, R.1
Schiebler, W.2
Ouimet, C.3
Greengard, P.4
-
20
-
-
0030769620
-
Immunochemical localization of the Batten disease (CLN3) protein in the retina
-
Katz, M.L., Gao, C.-L., Prabhakaram, M., Shibuya, H., Liu, P.-C. and Johnson, G.S. (1997) Immunochemical localization of the Batten disease (CLN3) protein in the retina. Invest. Ophthalmol. Vis. Sci., 38, 2375-2386.
-
(1997)
Invest. Ophthalmol. Vis. Sci.
, vol.38
, pp. 2375-2386
-
-
Katz, M.L.1
Gao, C.-L.2
Prabhakaram, M.3
Shibuya, H.4
Liu, P.-C.5
Johnson, G.S.6
-
21
-
-
0030577376
-
A model for Batten disease protein CLN3: Functional implications from homology and mutations
-
Janes, R.W., Munroe, P.B., Mitchison, H.M., Gardiner, R.M., Mole, S.E. and Wallace, B.A. (1996) A model for Batten disease protein CLN3: functional implications from homology and mutations. FEBS Lett., 399, 75-77.
-
(1996)
FEBS Lett.
, vol.399
, pp. 75-77
-
-
Janes, R.W.1
Munroe, P.B.2
Mitchison, H.M.3
Gardiner, R.M.4
Mole, S.E.5
Wallace, B.A.6
-
22
-
-
0033051762
-
The Batten disease gene product (CLN3p) is a Golgi integral membrane protein
-
Kremmidiotis, G., Lensink, I.L., Bilton, R.L., Woollatt, E., Chataway, T.K., Sutherland, G.R. and Callen, D.F. (1999) The Batten disease gene product (CLN3p) is a Golgi integral membrane protein. Hum. Mol. Genet., 8, 523-531.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 523-531
-
-
Kremmidiotis, G.1
Lensink, I.L.2
Bilton, R.L.3
Woollatt, E.4
Chataway, T.K.5
Sutherland, G.R.6
Callen, D.F.7
-
23
-
-
0032799217
-
CLN3 defines a novel antiapoptotic pathway operative in neurodegeneration and mediated by ceramide
-
Puranam, K.L., Guo, W.-X., Qian, W.-H., Nikbakht, K. and Boustany, R.-M. (1999) CLN3 defines a novel antiapoptotic pathway operative in neurodegeneration and mediated by ceramide. Mol. Genet. Metab., 66, 294-308.
-
(1999)
Mol. Genet. 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
-
24
-
-
0026006536
-
Newly synthesized synaptophysin is transported to synaptic-like microvesicles via constitutive secretory vesicles and the plasma membrane
-
Regnier-Vigouroux, A., Tooze, S.A. and Huttner, W.B. (1991) Newly synthesized synaptophysin is transported to synaptic-like microvesicles via constitutive secretory vesicles and the plasma membrane. EMBO J., 10, 3589-3601.
-
(1991)
EMBO J.
, vol.10
, pp. 3589-3601
-
-
Regnier-Vigouroux, A.1
Tooze, S.A.2
Huttner, W.B.3
-
25
-
-
0028906886
-
The topogenic fate of the polytopic transmembrane proteins, synaptophysin and connexin, is determined by their membrane-spanning domains
-
Leube, R.E. (1995) The topogenic fate of the polytopic transmembrane proteins, synaptophysin and connexin, is determined by their membrane-spanning domains. J. Cell Sci., 108, 883-894.
-
(1995)
J. Cell Sci.
, vol.108
, pp. 883-894
-
-
Leube, R.E.1
-
26
-
-
0028110507
-
Spielmeyer-Vogt (Batten, Speilmeyer-Sjogren) disease. Distinctive patterns of cerebral glucose utilization
-
Philippart, M., Messa, C. and Chugani, H.T. (1994) Spielmeyer-Vogt (Batten, Speilmeyer-Sjogren) disease. Distinctive patterns of cerebral glucose utilization. Brain, 117, 1085-1092.
-
(1994)
Brain
, vol.117
, pp. 1085-1092
-
-
Philippart, M.1
Messa, C.2
Chugani, H.T.3
-
27
-
-
0020529962
-
Transformation of intact yeast cells treated with alkali cations
-
Ito, H., Fukuda, Y., Murata, K. and Kimura, A. (1983) Transformation of intact yeast cells treated with alkali cations. J. Bacteriol., 153, 163-168.
-
(1983)
J. Bacteriol.
, vol.153
, pp. 163-168
-
-
Ito, H.1
Fukuda, Y.2
Murata, K.3
Kimura, A.4
-
28
-
-
0025978949
-
Getting started with yeast
-
Sherman, F. (1991) Getting started with yeast. Methods Enzymol., 194, 3-21.
-
(1991)
Methods Enzymol.
, vol.194
, pp. 3-21
-
-
Sherman, F.1
|