-
3
-
-
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., Gécz 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., and Ropers H.H. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nat. Genet. 35 (2003) 313-315
-
(2003)
Nat. Genet.
, vol.35
, pp. 313-315
-
-
Kalscheuer, V.M.1
Freude, K.2
Musante, L.3
Jensen, L.R.4
Yntema, H.G.5
Gécz, 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..
-
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., and Schwartz C.E. 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 (2004) 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
-
-
0033007323
-
PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival
-
Waragai M., Lammers C.H., Takeuchi S., Imafuku I., Udagawa Y., Kanazawa I., Kawabata M., Mouradian M.M., and Okazawa H. PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival. Hum. Mol. Genet. 8 (1999) 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
-
6
-
-
0035504082
-
PQBP-1 (Np/PQ): a polyglutamine tract-binding and nuclear inclusion-forming protein
-
Okazawa H., Sudol M., and Rich T. PQBP-1 (Np/PQ): a polyglutamine tract-binding and nuclear inclusion-forming protein. Brain Res. Bull. 56 (2001) 273-280
-
(2001)
Brain Res. Bull.
, vol.56
, pp. 273-280
-
-
Okazawa, H.1
Sudol, M.2
Rich, T.3
-
7
-
-
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., and Kanazawa I. Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death. Neuron 34 (2002) 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
-
8
-
-
26644446209
-
PQBP-1 is expressed predominantly in the central nervous system during development
-
Qi Y., Hoshino M., Wada Y., Marubuchi S., Yoshimura N., Kanazawa I., Shinomiya K., and Okazawa H. PQBP-1 is expressed predominantly in the central nervous system during development. Eur. J. NeuroSci. 22 (2005) 1277-1286
-
(2005)
Eur. J. NeuroSci.
, vol.22
, pp. 1277-1286
-
-
Qi, Y.1
Hoshino, M.2
Wada, Y.3
Marubuchi, S.4
Yoshimura, N.5
Kanazawa, I.6
Shinomiya, K.7
Okazawa, H.8
-
9
-
-
70350694440
-
Knock-down of PQBP1 impairs anxiety-related cognition in mouse
-
Ito H., Yoshimura N., Kurosawa M., Ishii S., Nukina N., and Okazawa H. Knock-down of PQBP1 impairs anxiety-related cognition in mouse. Hum. Mol. Genet. 18 (2009) 4239-4254
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 4239-4254
-
-
Ito, H.1
Yoshimura, N.2
Kurosawa, M.3
Ishii, S.4
Nukina, N.5
Okazawa, H.6
-
10
-
-
0033880664
-
PQBP-1/Npw38, a nuclear protein binding to the polyglutamine tract, interacts with U5-15kD/dim1p via the carboxyl-terminal domain
-
Waragai M., Junn E., Kajikawa M., Takeuchi S., Kanazawa I., Shibata M., Mouradian M.M., and Okazawa H. 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 (2000) 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
-
11
-
-
0034680311
-
Evidence that dim1 associates with proteins involved in pre-mRNA splicing, and delineation of residues essential for dim1 interactions with hnRNP F and Npw38/PQBP-1
-
Zhang Y., Lindblom T., Chang A., Sudol M., Sluder A.E., and Golemis E.A. Evidence that dim1 associates with proteins involved in pre-mRNA splicing, and delineation of residues essential for dim1 interactions with hnRNP F and Npw38/PQBP-1. Gene 257 (2000) 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
-
12
-
-
67349133614
-
Polyglutamine tract binding protein-1 is an intrinsically unstructured protein
-
Takahashi M., Mizuguchi M., Shinoda H., Aizawa T., Demura M., Okazawa H., and Kawano K. Polyglutamine tract binding protein-1 is an intrinsically unstructured protein. Biochim. Biophys. Acta 1794 (2009) 936-943
-
(2009)
Biochim. Biophys. Acta
, vol.1794
, pp. 936-943
-
-
Takahashi, M.1
Mizuguchi, M.2
Shinoda, H.3
Aizawa, T.4
Demura, M.5
Okazawa, H.6
Kawano, K.7
-
13
-
-
0041525560
-
Structure, stability, and function of hDim1 investigated by NMR, circular dichroism, and mutational analysis
-
Zhang Y.Z., Cheng H., Gould K.L., Golemis E.A., and Roder H. Structure, stability, and function of hDim1 investigated by NMR, circular dichroism, and mutational analysis. Biochemistry 42 (2003) 9609-9618
-
(2003)
Biochemistry
, vol.42
, pp. 9609-9618
-
-
Zhang, Y.Z.1
Cheng, H.2
Gould, K.L.3
Golemis, E.A.4
Roder, H.5
-
14
-
-
33845544876
-
Identification of human dim1 as a peptidase with autocleavage activity
-
Jin T., Guo F., Wang Y., and Zhang Y.Z. Identification of human dim1 as a peptidase with autocleavage activity. Chem. Biol. Drug Des. 68 (2006) 266-272
-
(2006)
Chem. Biol. Drug Des.
, vol.68
, pp. 266-272
-
-
Jin, T.1
Guo, F.2
Wang, Y.3
Zhang, Y.Z.4
-
15
-
-
0029400480
-
NMRPipe: a multidimensional spectral processing system based on UNIX pipes
-
Delaglio F., Grzesiek S., Vuister G.W., Zhu G., Pfeifer J., and Bax A. NMRPipe: a multidimensional spectral processing system based on UNIX pipes. J. Biomol. NMR 6 (1995) 277-293
-
(1995)
J. Biomol. NMR
, vol.6
, pp. 277-293
-
-
Delaglio, F.1
Grzesiek, S.2
Vuister, G.W.3
Zhu, G.4
Pfeifer, J.5
Bax, A.6
-
16
-
-
4644259437
-
Using NMR View to visualize and analyze the NMR spectra of macromolecules
-
Johnson B.A. Using NMR View to visualize and analyze the NMR spectra of macromolecules. Methods Mol. Biol. 278 (2004) 313-352
-
(2004)
Methods Mol. Biol.
, vol.278
, pp. 313-352
-
-
Johnson, B.A.1
-
17
-
-
0035958082
-
The 8-kDa dynein light chain binds to its targets via a conserved (K/R)XTQT motif
-
Lo K.W., Naisbitt S., Fan J.S., Sheng M., and Zhang M. The 8-kDa dynein light chain binds to its targets via a conserved (K/R)XTQT motif. J. Biol. Chem. 276 (2001) 14059-14066
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 14059-14066
-
-
Lo, K.W.1
Naisbitt, S.2
Fan, J.S.3
Sheng, M.4
Zhang, M.5
-
18
-
-
0033607476
-
Identification, characterization and crystal structure analysis of the human spliceosomal U5 snRNP-specific 15 kD protein
-
Reuter K., Nottrott S., Fabrizio P., Lührmann R., and Ficner R. Identification, characterization and crystal structure analysis of the human spliceosomal U5 snRNP-specific 15 kD protein. J. Mol. Biol. 294 (1999) 515-525
-
(1999)
J. Mol. Biol.
, vol.294
, pp. 515-525
-
-
Reuter, K.1
Nottrott, S.2
Fabrizio, P.3
Lührmann, R.4
Ficner, R.5
-
19
-
-
16344378243
-
Mapping the interaction surface of a membrane protein: unveiling the conformational switch of phospholamban in calcium pump regulation
-
Zamoon J., Nitu F., Karim C., Thomas D.D., and Veglia G. Mapping the interaction surface of a membrane protein: unveiling the conformational switch of phospholamban in calcium pump regulation. Proc. Natl. Acad. Sci. U. S. A. 102 (2005) 4747-4752
-
(2005)
Proc. Natl. Acad. Sci. U. S. A.
, vol.102
, pp. 4747-4752
-
-
Zamoon, J.1
Nitu, F.2
Karim, C.3
Thomas, D.D.4
Veglia, G.5
-
20
-
-
57749112083
-
Probing the interaction between the coiled coil leucine zipper of cGMP-dependent protein kinase Ialpha and the C terminus of the myosin binding subunit of the myosin light chain phosphatase
-
Sharma A.K., Zhou G.P., Kupferman J., Surks H.K., Christensen E.N., Chou J.J., Mendelsohn M.E., and Rigby A.C. Probing the interaction between the coiled coil leucine zipper of cGMP-dependent protein kinase Ialpha and the C terminus of the myosin binding subunit of the myosin light chain phosphatase. J. Biol. Chem. 283 (2008) 32860-32869
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 32860-32869
-
-
Sharma, A.K.1
Zhou, G.P.2
Kupferman, J.3
Surks, H.K.4
Christensen, E.N.5
Chou, J.J.6
Mendelsohn, M.E.7
Rigby, A.C.8
-
21
-
-
0031002350
-
The structure of the translational initiation factor IF1 from E. coli contains an oligomer-binding motif
-
Sette M., Van Tilborg P., Spurio R., Kaptein R., Paci M., Gualerzi C.O., and Boelens R. The structure of the translational initiation factor IF1 from E. coli contains an oligomer-binding motif. EMBO J. 16 (1997) 1436-1443
-
(1997)
EMBO J.
, vol.16
, pp. 1436-1443
-
-
Sette, M.1
Van Tilborg, P.2
Spurio, R.3
Kaptein, R.4
Paci, M.5
Gualerzi, C.O.6
Boelens, R.7
-
22
-
-
0033610476
-
Identification by NMR spectroscopy of residues at contact surfaces in large, slowly exchanging macromolecular complexes
-
Matsuo H., Walters K.J., Teruya K., Tanaka T., Gassner G.T., Lippard S.J., Kyogoku Y., and Wagner G. Identification by NMR spectroscopy of residues at contact surfaces in large, slowly exchanging macromolecular complexes. J. Am. Chem. Soc. 121 (1999) 9903-9904
-
(1999)
J. Am. Chem. Soc.
, vol.121
, pp. 9903-9904
-
-
Matsuo, H.1
Walters, K.J.2
Teruya, K.3
Tanaka, T.4
Gassner, G.T.5
Lippard, S.J.6
Kyogoku, Y.7
Wagner, G.8
-
23
-
-
4344707281
-
Unfolded proteins and protein folding studied by NMR
-
Dyson H.J., and Wright P.E. Unfolded proteins and protein folding studied by NMR. Chem. Rev. 104 (2004) 3607-3622
-
(2004)
Chem. Rev.
, vol.104
, pp. 3607-3622
-
-
Dyson, H.J.1
Wright, P.E.2
-
24
-
-
0032749078
-
Intrinsically unstructured proteins: re-assessing the protein structure-function paradigm
-
Wright P.E., and Dyson H.J. Intrinsically unstructured proteins: re-assessing the protein structure-function paradigm. J. Mol. Biol. 293 (1999) 321-331
-
(1999)
J. Mol. Biol.
, vol.293
, pp. 321-331
-
-
Wright, P.E.1
Dyson, H.J.2
-
25
-
-
0037188377
-
Intrinsic disorder and protein function
-
Dunker A.K., Brown C.J., Lawson J.D., Iakoucheva L.M., and Obradović Z. Intrinsic disorder and protein function. Biochemistry 41 (2002) 6573-6582
-
(2002)
Biochemistry
, vol.41
, pp. 6573-6582
-
-
Dunker, A.K.1
Brown, C.J.2
Lawson, J.D.3
Iakoucheva, L.M.4
Obradović, Z.5
-
26
-
-
0036803243
-
Intrinsically unstructured proteins
-
Tompa P. Intrinsically unstructured proteins. Trends Biochem. Sci. 27 (2002) 527-533
-
(2002)
Trends Biochem. Sci.
, vol.27
, pp. 527-533
-
-
Tompa, P.1
-
27
-
-
65249102824
-
Close encounters of the third kind: disordered domains and the interactions of proteins
-
Tompa P., Fuxreiter M., Oldfield C.J., Simon I., Dunker A.K., and Uversky V.N. Close encounters of the third kind: disordered domains and the interactions of proteins. Bioessays 31 (2009) 328-335
-
(2009)
Bioessays
, vol.31
, pp. 328-335
-
-
Tompa, P.1
Fuxreiter, M.2
Oldfield, C.J.3
Simon, I.4
Dunker, A.K.5
Uversky, V.N.6
-
28
-
-
1542358787
-
Prediction and functional analysis of native disorder in proteins from the three kingdoms of life
-
Ward J.J., Sodhi J.S., McGuffin L.J., Buxton B.F., and Jones D.T. Prediction and functional analysis of native disorder in proteins from the three kingdoms of life. J. Mol. Biol. 337 (2004) 635-645
-
(2004)
J. Mol. Biol.
, vol.337
, pp. 635-645
-
-
Ward, J.J.1
Sodhi, J.S.2
McGuffin, L.J.3
Buxton, B.F.4
Jones, D.T.5
-
29
-
-
67650045816
-
Limitations of induced folding in molecular recognition by intrinsically disordered proteins
-
Hazy E., and Tompa P. Limitations of induced folding in molecular recognition by intrinsically disordered proteins. Chemphyschem 10 (2009) 1415-1419
-
(2009)
Chemphyschem
, vol.10
, pp. 1415-1419
-
-
Hazy, E.1
Tompa, P.2
-
30
-
-
0036468397
-
Coupling of folding and binding for unstructured proteins
-
Dyson H.J., and Wright P.E. Coupling of folding and binding for unstructured proteins. Curr. Opin. Struct. Biol. 12 (2002) 54-60
-
(2002)
Curr. Opin. Struct. Biol.
, vol.12
, pp. 54-60
-
-
Dyson, H.J.1
Wright, P.E.2
-
31
-
-
0032488627
-
4E binding proteins inhibit the translation factor eIF4E without folded structure
-
Fletcher C.M., McGuire A.M., Gingras A.C., Li H., Matsuo H., Sonenberg N., and Wagner G. 4E binding proteins inhibit the translation factor eIF4E without folded structure. Biochemistry 37 (1998) 9-15
-
(1998)
Biochemistry
, vol.37
, pp. 9-15
-
-
Fletcher, C.M.1
McGuire, A.M.2
Gingras, A.C.3
Li, H.4
Matsuo, H.5
Sonenberg, N.6
Wagner, G.7
-
32
-
-
57449091330
-
The intrinsically disordered cytoplasmic domain of the T cell receptor zeta chain binds to the nef protein of simian immunodeficiency virus without a disorder-to-order transition
-
Sigalov A.B., Kim W.M., Saline M., and Stern L.J. The intrinsically disordered cytoplasmic domain of the T cell receptor zeta chain binds to the nef protein of simian immunodeficiency virus without a disorder-to-order transition. Biochemistry 47 (2008) 12942-12944
-
(2008)
Biochemistry
, vol.47
, pp. 12942-12944
-
-
Sigalov, A.B.1
Kim, W.M.2
Saline, M.3
Stern, L.J.4
-
33
-
-
0028916599
-
A hot spot of binding energy in a hormone-receptor interface
-
Clackson T., and Wells J.A. A hot spot of binding energy in a hormone-receptor interface. Science 267 (1995) 383-386
-
(1995)
Science
, vol.267
, pp. 383-386
-
-
Clackson, T.1
Wells, J.A.2
-
34
-
-
0026598960
-
Human growth hormone and extracellular domain of its receptor: crystal structure of the complex
-
de Vos A.M., Ultsch M., and Kossiakoff A.A. Human growth hormone and extracellular domain of its receptor: crystal structure of the complex. Science 255 (1992) 306-312
-
(1992)
Science
, vol.255
, pp. 306-312
-
-
de Vos, A.M.1
Ultsch, M.2
Kossiakoff, A.A.3
-
35
-
-
34248581189
-
Structural basis for the bifunctionality of the U5 snRNP 52K protein (CD2BP2)
-
Nielsen T.K., Liu S., Lührmann R., and Ficner R. Structural basis for the bifunctionality of the U5 snRNP 52K protein (CD2BP2). J. Mol. Biol. 369 (2007) 902-908
-
(2007)
J. Mol. Biol.
, vol.369
, pp. 902-908
-
-
Nielsen, T.K.1
Liu, S.2
Lührmann, R.3
Ficner, R.4
-
36
-
-
17844367582
-
The human U5 snRNP 52K protein (CD2BP2) interacts with U5-102K (hPrp6), a U4/U6.U5 tri-snRNP bridging protein, but dissociates upon tri-snRNP formation
-
Laggerbauer B., Liu S., Makarov E., Vornlocher H.P., Makarova O., Ingelfinger D., Achsel T., and Lührmann R. The human U5 snRNP 52K protein (CD2BP2) interacts with U5-102K (hPrp6), a U4/U6.U5 tri-snRNP bridging protein, but dissociates upon tri-snRNP formation. RNA 11 (2005) 598-608
-
(2005)
RNA
, vol.11
, pp. 598-608
-
-
Laggerbauer, B.1
Liu, S.2
Makarov, E.3
Vornlocher, H.P.4
Makarova, O.5
Ingelfinger, D.6
Achsel, T.7
Lührmann, R.8
-
37
-
-
3242737496
-
A subset of human 35S U5 proteins, including Prp19, function prior to catalytic step 1 of splicing
-
Makarova O.V., Makarov E.M., Urlaub H., Will C.L., Gentzel M., Wilm M., and Lührmann R. A subset of human 35S U5 proteins, including Prp19, function prior to catalytic step 1 of splicing. EMBO J. 23 (2004) 2381-2391
-
(2004)
EMBO J.
, vol.23
, pp. 2381-2391
-
-
Makarova, O.V.1
Makarov, E.M.2
Urlaub, H.3
Will, C.L.4
Gentzel, M.5
Wilm, M.6
Lührmann, R.7
-
38
-
-
35248838402
-
The Dim protein family: from structure to splicing
-
Simeoni F., and Divita G. The Dim protein family: from structure to splicing. Cell. Mol. Life Sci. 64 (2007) 2079-2089
-
(2007)
Cell. Mol. Life Sci.
, vol.64
, pp. 2079-2089
-
-
Simeoni, F.1
Divita, G.2
-
39
-
-
0030905890
-
Fission yeast dim1(+) encodes a functionally conserved polypeptide essential for mitosis
-
Berry L.D., and Gould K.L. Fission yeast dim1(+) encodes a functionally conserved polypeptide essential for mitosis. J. Cell Biol. 137 (1997) 1337-1354
-
(1997)
J. Cell Biol.
, vol.137
, pp. 1337-1354
-
-
Berry, L.D.1
Gould, K.L.2
-
40
-
-
24644464171
-
Biochemical characterization and crystal structure of a Dim1 family associated protein: Dim2
-
Simeoni F., Arvai A., Bello P., Gondeau C., Hopfner K.P., Neyroz P., Heitz F., Tainer J., and Divita G. Biochemical characterization and crystal structure of a Dim1 family associated protein: Dim2. Biochemistry 44 (2005) 11997-12008
-
(2005)
Biochemistry
, vol.44
, pp. 11997-12008
-
-
Simeoni, F.1
Arvai, A.2
Bello, P.3
Gondeau, C.4
Hopfner, K.P.5
Neyroz, P.6
Heitz, F.7
Tainer, J.8
Divita, G.9
|