-
1
-
-
0141926491
-
Mutant huntingtin promotes the fibrillogenesis of wild-type huntingtin: A potential mechanism for loss of huntingtin function in Huntington's disease
-
Busch, A., Engemann, S., Lurz, R., Okazawa, H., Lehrach, H. & Wanker, E.E. (2003) Mutant huntingtin promotes the fibrillogenesis of wild-type huntingtin: a potential mechanism for loss of huntingtin function in Huntington's disease. J. Biol. Chem., 278, 41452-41461.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 41452-41461
-
-
Busch, A.1
Engemann, S.2
Lurz, R.3
Okazawa, H.4
Lehrach, H.5
Wanker, E.E.6
-
2
-
-
0345257776
-
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
-
Kalscheuer, V.M., Freude, K., Musante, L., Jensen, L.R., Yntema, H.G., Gecz, J., Sefiani, A., Hoffmann, K., Moser, B., Haas, S., Gurok, U., Haesler, S., Aranda, B., Nshedjan, A., Tzschach, A., Hartmann, N., Roloff, T.C., Shoichet, S., Hagens, O., Tao, J., Van Bokhoven, H., Turner, G., Chelly, J., Moraine, C., Fryns, J.P., Nuber, U., Hoeltzenbein, M., Scharff, C., Scherthan, H., Lenzner, S., Hamel, B.C., Schweiger, S. & Ropers, H.H. (2003) Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nature Genet., 35, 313-315.
-
(2003)
Nature Genet.
, vol.35
, pp. 313-315
-
-
Kalscheuer, V.M.1
Freude, K.2
Musante, L.3
Jensen, L.R.4
Yntema, H.G.5
Gecz, J.6
Sefiani, A.7
Hoffmann, K.8
Moser, B.9
Haas, S.10
Gurok, U.11
Haesler, S.12
Aranda, B.13
Nshedjan, A.14
Tzschach, A.15
Hartmann, N.16
Roloff, T.C.17
Shoichet, S.18
Hagens, O.19
Tao, J.20
Van Bokhoven, H.21
Turner, G.22
Chelly, J.23
Moraine, C.24
Fryns, J.P.25
Nuber, U.26
Hoeltzenbein, M.27
Scharff, C.28
Scherthan, H.29
Lenzner, S.30
Hamel, B.C.31
Schweiger, S.32
Ropers, H.H.33
more..
-
3
-
-
4844219948
-
Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1)
-
Kleefstra, T., Franken, C.E., Arens, Y.H., Ramakers, G.J., Yntema, H.G., Sistermans, E.A., Hulsmans, C.F., Nillesen, W.N., van Bokhoven, H., de Vries, B.B. & Hamel, B.C. (2004) Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1). Clin. Genet., 66, 318-326.
-
(2004)
Clin. Genet.
, vol.66
, pp. 318-326
-
-
Kleefstra, T.1
Franken, C.E.2
Arens, Y.H.3
Ramakers, G.J.4
Yntema, H.G.5
Sistermans, E.A.6
Hulsmans, C.F.7
Nillesen, W.N.8
Van Bokhoven, H.9
De Vries, B.B.10
Hamel, B.C.11
-
4
-
-
12144288873
-
Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause renpenning syndrome and X-linked mental retardation in another family with microcephaly
-
Lenski, C., Abidi, F., Meindl, A., Gibson, A., Platzer, M., Frank Kooy, R., Lubs, H.A., Stevenson, R.E., Ramser, J. & Schwartz, C.E. (2004) Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause renpenning syndrome and X-linked mental retardation in another family with microcephaly. Am. J. Hum. Genet., 74, 777-780.
-
(2004)
Am. J. Hum. Genet.
, vol.74
, pp. 777-780
-
-
Lenski, C.1
Abidi, F.2
Meindl, A.3
Gibson, A.4
Platzer, M.5
Frank Kooy, R.6
Lubs, H.A.7
Stevenson, R.E.8
Ramser, J.9
Schwartz, C.E.10
-
5
-
-
18444403420
-
Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death
-
Okazawa, H., Rich, T., Chang, A., Lin, X., Waragai, M., Kajikawa, M., Enokido, Y., Komuro, A., Kato, S., Shibata, M., Hatanaka, H., Mouradian, M.M., Sudol, M. & Kanazawa, I. (2002) Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death. Neuron, 34, 701-713.
-
(2002)
Neuron
, vol.34
, pp. 701-713
-
-
Okazawa, H.1
Rich, T.2
Chang, A.3
Lin, X.4
Waragai, M.5
Kajikawa, M.6
Enokido, Y.7
Komuro, A.8
Kato, S.9
Shibata, M.10
Hatanaka, H.11
Mouradian, M.M.12
Sudol, M.13
Kanazawa, I.14
-
6
-
-
18044398066
-
Renpenning syndrome comes into focus
-
Stevenson, R.E., Bennett, C.W., Abidi, F., Kleefstra, T., Porteous, M., Simensen, R.J., Lubs, H.A., Hamel, B.C.J. & Schwartz, C.E. (2005) Renpenning syndrome comes into focus. Am. J. Med. Genet., 134, 415-421.
-
(2005)
Am. J. Med. Genet.
, vol.134
, pp. 415-421
-
-
Stevenson, R.E.1
Bennett, C.W.2
Abidi, F.3
Kleefstra, T.4
Porteous, M.5
Simensen, R.J.6
Lubs, H.A.7
Hamel, B.C.J.8
Schwartz, C.E.9
-
7
-
-
0033880664
-
PQBP-1/Npw38, a nuclear protein binding to the polyglutamine tract, interacts with U5-15kD/dim1p via the carboxyl-terminal domain
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Waragai, M., Junn, E., Kajikawa, M., Takeuchi, S., Kanazawa, I., Shibata, M., Mouradian, M.M. & Okazawa, H. (2000) PQBP-1/Npw38, a nuclear protein binding to the polyglutamine tract, interacts with U5-15kD/dim1p via the carboxyl-terminal domain. Biochem. Biophys. Res. Commun., 273, 592-595.
-
(2000)
Biochem. Biophys. Res. Commun.
, vol.273
, pp. 592-595
-
-
Waragai, M.1
Junn, E.2
Kajikawa, M.3
Takeuchi, S.4
Kanazawa, I.5
Shibata, M.6
Mouradian, M.M.7
Okazawa, H.8
-
8
-
-
0033007323
-
PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell death
-
Waragai, M., Lammers, C.-H., Takeuchi, S., Imafuku, I., Udagawa, Y., Kanazawa, I., Kawabata, M., Mouradian, M.M. & Okazawa, H. (1999) PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell death. Hum. Mol. Genet., 8, 977-987.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 977-987
-
-
Waragai, M.1
Lammers, C.-H.2
Takeuchi, S.3
Imafuku, I.4
Udagawa, Y.5
Kanazawa, I.6
Kawabata, M.7
Mouradian, M.M.8
Okazawa, H.9
-
9
-
-
0034680311
-
Evidence that dim1 associates with proteins involved in pre-mRNA splicing, and delineation of residues essential for diml interactions with hnRNP F and Npw38/PQBP-1
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Zhang, Y., Lindblom, T., Chang, A., Sudol, M., Sluder, A.E. & Golemis, E.A. (2000) Evidence that dim1 associates with proteins involved in pre-mRNA splicing, and delineation of residues essential for diml interactions with hnRNP F and Npw38/PQBP-1. Gene, 257, 33-43.
-
(2000)
Gene
, vol.257
, pp. 33-43
-
-
Zhang, Y.1
Lindblom, T.2
Chang, A.3
Sudol, M.4
Sluder, A.E.5
Golemis, E.A.6
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