Associated Papers
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
The role of PQBP1 in neural development and function.
Cheng S et al.
Biochemical Society Transactions, 2023
Renpenning syndrome in a female.
Cho RY et al.
American Journal of Medical Genetics. Part A, 2020
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
[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
Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15 kD.
Mizuguchi M et al.
Nature Communications, 2014
The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules.
Kunde SA et al.
Human Molecular Genetics, 2011
Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.
Musante L et al.
Human Mutation, 2010
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
X-linked mental retardation: further lumping, splitting and emerging phenotypes.
Kleefstra T et al.
Clinical Genetics, 2005
Renpenning syndrome comes into focus.
Stevenson RE et al.
American Journal of Medical Genetics. Part A, 2005
Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1).
Kleefstra T et al.
Clinical Genetics, 2004
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 et al.
American Journal of Human Genetics, 2004
A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.
Rejeb I et al.
European Journal of Medical Genetics, 0