Gene Review:
PQBP1 - polyglutamine binding protein 1
Homo sapiens
Synonyms:
38 kDa nuclear protein containing a WW domain, JM26, MRX2, MRX55, MRXS3, ...
Cossée,
Demeer,
Blanchet,
Echenne,
Singh,
Hagens,
Antin,
Finck,
Vallee,
Dollfus,
Hegde,
Springell,
Thelma,
Woods,
Kalscheuer,
Mandel,
Okazawa,
Rich,
Chang,
Lin,
Waragai,
Kajikawa,
Enokido,
Komuro,
Kato,
Shibata,
Hatanaka,
Mouradian,
Sudol,
Kanazawa,
Kalscheuer,
Freude,
Musante,
Jensen,
Yntema,
Gécz,
Sefiani,
Hoffmann,
Moser,
Haas,
Gurok,
Haesler,
Aranda,
Nshedjan,
Tzschach,
Hartmann,
Roloff,
Shoichet,
Hagens,
Tao,
Van Bokhoven,
Turner,
Chelly,
Moraine,
Fryns,
Nuber,
Hoeltzenbein,
Scharff,
Scherthan,
Lenzner,
Hamel,
Schweiger,
Ropers,
Okazawa,
Sudol,
Rich,
- 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., Ropers, H.H. Nat. Genet. (2003)
- Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect. Cossée, M., Demeer, B., Blanchet, P., Echenne, B., Singh, D., Hagens, O., Antin, M., Finck, S., Vallee, L., Dollfus, H., Hegde, S., Springell, K., Thelma, B.K., Woods, G., Kalscheuer, V., Mandel, J.L. Eur. J. Hum. Genet. (2006)
- Polyglutamine tract-binding protein-1 dysfunction induces cell death of neurons through mitochondrial stress. Marubuchi, S., Wada, Y., Okuda, T., Hara, Y., Qi, M.L., Hoshino, M., Nakagawa, M., Kanazawa, I., Okazawa, H. J. Neurochem. (2005)
- A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation. Mart??nez-Garay, I., Tom??s, M., Oltra, S., Ramser, J., Molt??, M.D., Prieto, F., Meindl, A., Kutsche, K., Mart??nez, F. Eur. J. Hum. Genet. (2007)
- Health status, behavior, and care utilization in the Geneva Gay Men's Health Survey. Wang, J., Häusermann, M., Vounatsou, P., Aggleton, P., Weiss, M.G. Preventive medicine (2007)
- 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. Neuron (2002)
- Toward cell specificity in SCA1. Humbert, S., Saudou, F. Neuron (2002)
- 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. Am. J. Hum. Genet. (2004)
- Nucleocytoplasmic shuttling of the splicing factor SIPP1. Llorian, M., Beullens, M., Lesage, B., Nicolaescu, E., Beke, L., Landuyt, W., Ortiz, J.M., Bollen, M. J. Biol. Chem. (2005)
- Genomic organization and alternative transcripts of the human PQBP-1 gene. Iwamoto, K., Huang, Y., Ueda, S. Gene (2000)
- Expression of human PQBP-1 in Drosophila impairs long-term memory and induces abnormal courtship. Yoshimura, N., Horiuchi, D., Shibata, M., Saitoe, M., Qi, M.L., Okazawa, H. FEBS Lett. (2006)
- Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation. Fichera, M., Falco, M., Lo Giudice, M., Castiglia, L., Guarnaccia, V., Calì, F., Spalletta, A., Scuderi, C., Avola, E. Clin. Genet. (2005)
- Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. Lubs, H., Abidi, F.E., Echeverri, R., Holloway, L., Meindl, A., Stevenson, R.E., Schwartz, C.E. J. Med. Genet. (2006)
- PQBP-1 transgenic mice show a late-onset motor neuron disease-like phenotype. Okuda, T., Hattori, H., Takeuchi, S., Shimizu, J., Ueda, H., Palvimo, J.J., Kanazawa, I., Kawano, H., Nakagawa, M., Okazawa, H. Hum. Mol. Genet. (2003)
- Npw38, a novel nuclear protein possessing a WW domain capable of activating basal transcription. Komuro, A., Saeki, M., Kato, S. Nucleic Acids Res. (1999)
- PQBP-1 (Np/PQ): a polyglutamine tract-binding and nuclear inclusion-forming protein. Okazawa, H., Sudol, M., Rich, T. Brain Res. Bull. (2001)
- Association of two nuclear proteins, Npw38 and NpwBP, via the interaction between the WW domain and a novel proline-rich motif containing glycine and arginine. Komuro, A., Saeki, M., Kato, S. J. Biol. Chem. (1999)
- Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement. Touati, G., Rusthoven, E., Depondt, E., Dorche, C., Duran, M., Heron, B., Rabier, D., Russo, M., Saudubray, J.M. J. Inherit. Metab. Dis. (2000)
- 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. J. Biol. Chem. (2003)
- Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization. Bonnet, C., Grégoire, M.J., Brochet, K., Raffo, E., Leheup, B., Jonveaux, P. J. Hum. Genet. (2006)