Publications by authors named "Sarah M von Loh"
Article Synopsis
- Auditory synaptopathy/neuropathy (AS/AN) is a type of hearing loss where sound detection in the cochlea works fine, but the inner ear’s sound encoding is disrupted, often due to genetic or environmental reasons.
- A study identified a specific mutation linked to AUNA2, a form of auditory neuropathy, in a German family, discovering a significant deletion in a gene called ATP11A on chromosome 13q34.
- This deletion of ATP11A, which is important for moving certain lipids in cells, affects its function and contributes to hearing issues in both humans and a mouse model, helping to clarify the genetic basis of this disorder.
