{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Tapia VE"],"funding":["NICHD NIH HHS","Medical Research Council","NCI NIH HHS","NIGMS NIH HHS"],"pagination":["19391-401"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC2885219"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["285(25)"],"pubmed_abstract":["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 causes this syndrome is unique among other PQBP1 mutations reported to date because it maps within a functional domain of PQBP1, known as the WW domain. The mutation substitutes tyrosine 65 with cysteine and is located within the conserved core of aromatic amino acids of the domain. We show here that the binding property of the Y65C-mutated WW domain and the full-length mutant protein toward its cognate proline-rich ligands was diminished. Furthermore, in Golabi-Ito-Hall-derived lymphoblasts we sh"],"journal":["The Journal of biological chemistry"],"pubmed_title":["Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing."],"pmcid":["PMC2885219"],"funding_grant_id":["HD26202","R01 GM083897","MC_U117533887","T32-CA119929","R01 HD026202","R01-GM083897","T32 CA119929","MC_U117584256","U117584256"],"pubmed_authors":["McDonald CB","Humbert J","Satteson AC","Beullens M","Gaffney CJ","Tapia VE","Schwartz CE","Bollen M","Sudol M","Oka T","Mazack V","Volkmer R","Pastore A","Inayoshi Y","Nicolaescu E","Farooq A","Landgraf C","Musi V"],"additional_accession":[]},"is_claimable":false,"name":"Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing.","description":"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 causes this syndrome is unique among other PQBP1 mutations reported to date because it maps within a functional domain of PQBP1, known as the WW domain. The mutation substitutes tyrosine 65 with cysteine and is located within the conserved core of aromatic amino acids of the domain. We show here that the binding property of the Y65C-mutated WW domain and the full-length mutant protein toward its cognate proline-rich ligands was diminished. Furthermore, in Golabi-Ito-Hall-derived lymphoblasts we sh","dates":{"release":"2010-01-01T00:00:00Z","publication":"2010 Jun","modification":"2026-05-03T17:08:34.418Z","creation":"2026-04-07T19:27:09.617Z"},"accession":"S-EPMC2885219","cross_references":{"pubmed":["20410308"],"doi":["10.1074/jbc.M109.084525","10.1074/jbc.m109.084525"]}}