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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Biochemistry and Molecular Biology 2010
Témata:
Molecular Bases of Disease
On-line přístup: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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