| First Author | Buniello A | Year | 2016 |
| Journal | EMBO Mol Med | Volume | 8 |
| Issue | 3 | Pages | 191-207 |
| PubMed ID | 26881968 | Mgi Jnum | J:229594 |
| Mgi Id | MGI:5752667 | Doi | 10.15252/emmm.201505523 |
| Citation | Buniello A, et al. (2016) Wbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearing. EMBO Mol Med 8(3):191-207 |
| abstractText | WBP2 encodes the WW domain-binding protein 2 that acts as a transcriptional coactivator for estrogen receptor alpha (ESR1) and progesterone receptor (PGR). We reported that the loss of Wbp2 expression leads to progressive high-frequency hearing loss in mouse, as well as in two deaf children, each carrying two different variants in the WBP2 gene. The earliest abnormality we detect in Wbp2-deficient mice is a primary defect at inner hair cell afferent synapses. This study defines a new gene involved in the molecular pathway linking hearing impairment to hormonal signalling and provides new therapeutic targets. |
