Article
The Effect of a Pex3 Mutation on Hearing and Lipid Content of the Inner Ear.
Cells - 13 Oct 2022
Kochaj Rafael M, Martelletti Elisa, Ingham Neil J, Buniello Annalisa, Sousa Bebiana C, Wakelam Michael J O, Lopez-Clavijo Andrea F, Steel Karen P
Abstract excerpt
Peroxisome biogenesis disorders (due to PEX gene mutations) are associated with symptoms that range in severity and can lead to early childhood death, but a common feature is hearing impairment. In this study, mice carrying Pex3 mutations were found to show normal auditory development followed by an early-onset progressive increase in auditory response thresholds. The only structural defect detected in the...
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