PQBP1

Publications

Germanaud D et al. The Renpenning syndrome spectrum: New clinical insights supported by 13 new PQBP1-mutated males. Clin Genet. 2011; 79(3):225–235. PMID: 20950397.

Imafuku I et al. Polar amino acid-rich sequences bind to polyglutamine tracts. BBRC. 1998; 253(1):16–20. PMID: 9875212.

Ito H et al. In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells. Mol Psychiatry. 2015; 20(4):459–471. PMID: 25070536.

Jin M et al. Tau activates microglia via the PQBP1-cGAS-STING pathway to promote brain inflammation. Nat Commun. 2021; 12(1):6565. PMID: 34782623.

Kalscheuer VM et al. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nat Genet. 2003; 35(4):313–315. PMID: 14634649.

Kunde SA et al. The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules. Hum Mol Genet. 2011; 20(24):4916–4931. PMID: 21933836.

Okazawa H et al. Interaction between Mutant Ataxin-1 and PQBP-1 Affects Transcription and Cell Death. Neuron. 2002; 34(5):701–713. PMID: 12062018.

Renpenning H et al. Familial sex-linked mental retardation. Can Med Assoc J. 1962; 87(18):954–956. PMID: 13981686.

Stevenson RE et al. Renpenning syndrome comes into focus. Am J Med Genet A. 2005; 134(4):415–421. PMID: 15782410.

Tanaka H et al. The intellectual disability gene PQBP1 rescues Alzheimer’s disease pathology. Mol Psychiatry. 2018; 23(10):2090–2110. PMID: 30283027.

Yoh SM et al. PQBP1 is a proximal sensor of the cGAS-dependent innate response to HIV-1. Cell. 2015; 161(6):1293–1305. PMID: 26046437.

Waragai M et al. PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival. Hum Mol Genet. 1999; 8(6)977–987. PMID: 10332029.