Associated Papers
The missense mutation Y65C in PQBP1 causes microcephaly and cognitive deficits through a combination of partial loss-of-function and gain-of-function effects.
Yuan L et al.
Nature Communications, 2026
Renpenning syndrome related to a missense variant in polyglutamine-binding protein 1 (PQBP1): Two pediatric cases from a Chinese family and literature review.
Pan J et al.
Applied Neuropsychology. Child, 2025
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
Role of PQBP1 in Pathogen Recognition-Impact on Innate Immunity.
Wiench L et al.
Viruses, 2024
Polyglutamine binding protein 1 regulates neurite outgrowth through recruiting N-WASP.
Huang X et al.
The Journal of Biological Chemistry, 2024
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.
Courraud J et al.
Molecular Psychiatry, 2024
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
The role of PQBP1 in neural development and function.
Cheng S et al.
Biochemical Society Transactions, 2023
PQBP1: The Key to Intellectual Disability, Neurodegenerative Diseases, and Innate Immunity.
Tanaka H et al.
International Journal of Molecular Sciences, 2022
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA et al.
Hgg Advances, 2022
Fatal Attraction: The Case of Toxic Soluble Dimers of Truncated PQBP-1 Mutants in X-Linked Intellectual Disability.
Chen YW et al.
International Journal of Molecular Sciences, 2021
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Martin EMMA et al.
Human Molecular Genetics, 2020
The Renpenning syndrome-associated protein PQBP1 facilitates the nuclear import of splicing factor TXNL4A through the karyopherin β2 receptor.
Liu X et al.
The Journal of Biological Chemistry, 2020
Renpenning syndrome in a female.
Cho RY et al.
American Journal of Medical Genetics. Part A, 2020
Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.
Del-Toro N et al.
Nature Communications, 2019
Phenotypic and molecular insights into PQBP1-related intellectual disability.
Abdel-Salam GMH et al.
American Journal of Medical Genetics. Part A, 2018
PQBP1, an intrinsically disordered/denatured protein at the crossroad of intellectual disability and neurodegenerative diseases.
Okazawa H
Neurochemistry International, 2018
Mutations of PQBP1 in Renpenning syndrome promote ubiquitin-mediated degradation of FMRP and cause synaptic dysfunction.
Zhang XY et al.
Human Molecular Genetics, 2017
Changes in the folding landscape of the WW domain provide a molecular mechanism for an inherited genetic syndrome.
Pucheta-Martinez E et al.
Scientific Reports, 2016
[Frameshift mutations in the PQBP1 gene prevent its interaction with the splicing factor U5-15kD].
Mizuguchi M
Seikagaku. the Journal of Japanese Biochemical Society, 2015
Characterization of substrate binding of the WW domains in human WWP2 protein.
Jiang J et al.
Febs Letters, 2015
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C et al.
Journal of Medical Genetics, 2014
The splicing factor PQBP1 regulates mesodermal and neural development through FGF signaling.
Iwasaki Y et al.
Development (cambridge, England), 2014
Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15 kD.
Mizuguchi M et al.
Nature Communications, 2014
The XLID protein PQBP1 and the GTPase Dynamin 2 define a signaling link that orchestrates ciliary morphogenesis in postmitotic neurons.
Ikeuchi Y et al.
Cell Reports, 2013
PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth.
Wang Q et al.
Genes & Development, 2013
[Structural study of polyglutamine tract-binding protein 1].
Mizuguchi M et al.
Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2013
Molecular insights into the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1.
Sudol M et al.
Febs Letters, 2012
[Elucidation of molecular pathomechanisms of Huntington's disease].
Okazawa H
Rinsho Shinkeigaku = Clinical Neurology, 2012
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.
Germanaud D et al.
Clinical Genetics, 2011
Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing.
Tapia VE et al.
The Journal of Biological Chemistry, 2010
Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.
Musante L et al.
Human Mutation, 2010
Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene.
Lubs H et al.
Journal of Medical Genetics, 2006
Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.
Cossée M et al.
European Journal of Human Genetics : Ejhg, 2006