Y65C Missense Mutation in the WW Domain of the Golabi-Ito-Hall Syndrome Protein PQBP1 Affects Its Binding Activity and Deregulates Pre-mRNA Splicing

The PQBP1 (polyglutamine tract-binding protein 1) gene encodes a nuclear protein that regulates pre-mRNA splicing and transcription. Mutations in the PQBP1 gene were reported in several X chromosome-linked mental retardation disorders including Golabi-Ito-Hall syndrome. The missense mutation that ca...

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Main Authors: Tapia, Victor E., Nicolaescu, Emilia, McDonald, Caleb B., Musi, Valeria, Oka, Tsutomu, Inayoshi, Yujin, Satteson, Adam C., Mazack, Virginia, Humbert, Jasper, Gaffney, Christian J., Beullens, Monique, Schwartz, Charles E., Landgraf, Christiane, Volkmer, Rudolf, Pastore, Annalisa, Farooq, Amjad, Bollen, Mathieu, Sudol, Marius
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2010
Assuntos:
Molecular Bases of Disease
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2885219/
https://ncbi.nlm.nih.gov/pubmed/20410308
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M109.084525
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