Wbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearing
| Autor: | Annalisa Buniello, Neil J Ingham, Morag A Lewis, Andreea C Huma, Raquel Martinez‐Vega, Isabel Varela‐Nieto, Gema Vizcay‐Barrena, Roland A Fleck, Oliver Houston, Tanaya Bardhan, Stuart L Johnson, Jacqueline K White, Huijun Yuan, Walter Marcotti, Karen P Steel |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: | |
| Zdroj: | EMBO Molecular Medicine, Vol 8, Iss 3, Pp 191-207 (2016) |
| Druh dokumentu: | article |
| ISSN: | 1757-4676 1757-4684 |
| DOI: | 10.15252/emmm.201505523 |
| Popis: | Abstract WBP2 encodes the WW domain‐binding protein 2 that acts as a transcriptional coactivator for estrogen receptor α (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. |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
|
Plný text