Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5–15kD

PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth

(2013) Q. Wang et al.   GENES & DEVELOPMENT

The XLID Protein PQBP1 and the GTPase Dynamin 2 Define a Signaling Link that Orchestrates Ciliary Morphogenesis in Postmitotic Neurons

(2013) Yoshiho Ikeuchi et al.   Cell Reports

Architecture of the Spliceosome

(2012) Clarisse van der Feltz et al.   BIOCHEMISTRY

Solution Model of the Intrinsically Disordered Polyglutamine Tract-Binding Protein-1

(2012) Martin Rees et al.   BIOPHYSICAL JOURNAL

Molecular insights into the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1

(2012) Marius Sudol et al.   FEBS LETTERS

Spliceosome Database: a tool for tracking components of the spliceosome

(2012) Ivan Cvitkovic et al.   NUCLEIC ACIDS RESEARCH

The spliceosome: a flexible, reversible macromolecular machine

(2012) Aaron A. Hoskins et al.   TRENDS IN BIOCHEMICAL SCIENCES

Pre-mRNA splicing in disease and therapeutics

(2012) Ravi K. Singh et al.   TRENDS IN MOLECULAR MEDICINE

A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation

(2011) Imen Rejeb et al.   European Journal of Medical Genetics

Molecular Basis for Herpesvirus Entry Mediator Recognition by the Human Immune Inhibitory Receptor CD160 and Its Relationship to the Cosignaling Molecules BTLA and LIGHT

(2011) Rieko Kojima et al.   JOURNAL OF MOLECULAR BIOLOGY

Ordered and Dynamic Assembly of Single Spliceosomes

(2011) A. A. Hoskins et al.   SCIENCE

Mutation in PQBP1 is associated with periventricular heterotopia

(2010) Volney L. Sheen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Polyglutamine tract-binding protein-1 binds to U5-15kD via a continuous 23-residue segment of the C-terminal domain

(2010) Masaki Takahashi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males

(2010) D Germanaud et al.   CLINICAL GENETICS

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

(2010) Victor E. Tapia et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Polyglutamine tract binding protein-1 is an intrinsically unstructured protein

(2009) Masaki Takahashi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

The Spliceosome: Design Principles of a Dynamic RNP Machine

(2009) Markus C. Wahl et al.   CELL

Knock-down of PQBP1 impairs anxiety-related cognition in mouse

(2009) Hikaru Ito et al.   HUMAN MOLECULAR GENETICS