Frame shift mutations of the polyglutamine binding protein-1 (PQBP1) gene lead to total or
partial truncation of the C-terminal domain (CTD) and cause mental retardation in human …

Mutations of PQBP‐1 (polyglutamine binding protein‐1) have been shown recently to cause
human mental retardation accompanied by microcephaly at a high frequency. As a first step …

PQBP1 (polyglutamine tract-binding protein 1) is a causative gene for a relatively frequent X-
linked syndromic and non-syndromic mental retardation (MR). To analyze behavioral …

A novel gene, designated PQBP-1, which encodes a 265 residue protein that binds to the
polyglutamine tract of the brain-specific transcription factor Brn-2, was identified. PQBP-1 …

A loss-of-function of polyglutamine tract-binding protein 1 (PQBP1) induced by frameshift
mutations is believed to cause X-linked mental retardation. However, the mechanism by …

The idea that a common pathology underlies various neurodegenerative diseases and
dementias has attracted considerable attention in the basic and medical sciences …

The polyglutamine binding protein 1 (PQBP1) gene plays an important role in X‐linked
mental retardation (XLMR). Nine of the thirteen PQBP1 mutations known to date affect the …

Polyglutamine tract-binding protein-1 (PQBP1) is involved in the transcription-splicing
coupling, and its mutations cause a group of human mental retardation syndromes. We …

Polyglutamine tract-binding protein 1 (PQBP1) is an intrinsically disordered protein
abundantly expressed in the brain. Mutations in the PQBP1 gene are causative for X-linked …

We report two discordant clinical and imaging features in four male patients from two
unrelated families of Egyptian descent with hemizygous pathogenic variants in PQBP1. The …