Publications by authors named "E H Sherr"
Exposure to loud noise is a common cause of acquired hearing loss. Disruption of subcellular calcium homeostasis and downstream stress pathways in the endoplasmic reticulum and mitochondria, including the unfolded protein response (UPR), have been implicated in the pathophysiology of noise-induced hearing loss. However, studies on the association between calcium homeostasis and stress pathways have been limited due to limited ability to measure calcium dynamics in mature-hearing, noise-exposed mice.
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- The text discusses a specific gene, bhlhe22, which plays a crucial role in retinal and brain development by encoding a transcription factor involved in neural differentiation.
- Researchers identified eleven individuals from nine families with variants in this gene linked to a neurodevelopmental disorder characterized by speech limitations, severe motor impairments, intellectual disabilities, and other neurological symptoms, including agenesis of the corpus callosum.
- Genetic analysis revealed that some individuals had harmful missense variants in a critical region of the gene, while others had a recurring frameshift mutation, suggesting that these genetic changes lead to severe cognitive and motor deficits associated with this newly recognized disorder.
Cisplatin is a commonly used chemotherapy agent with a nearly universal side effect of sensorineural hearing loss. The cellular mechanisms underlying cisplatin ototoxicity are poorly understood. Efforts in drug development to prevent or reverse cisplatin ototoxicity have largely focused on pathways of oxidative stress and apoptosis.
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- AJAP1 is a protein linked to brain diseases and is found in neurons, specifically in dendrites, where it plays a role in recruiting GABA type B receptors (GBRs) to presynaptic sites.
- Several genetic variants of AJAP1, including the p.(W183C), have been associated with epilepsy and neurodevelopmental disorders, particularly affecting its ability to bind GBRs.
- Mice lacking functional AJAP1 showed decreased levels of presynaptic GBRs, leading to impaired synaptic inhibition and plasticity, highlighting the importance of AJAP1 in regulating neurotransmitter release.
Exposure to loud noise is a common cause of acquired hearing loss. Disruption of subcellular calcium homeostasis and downstream stress pathways in the endoplasmic reticulum and mitochondria, including the unfolded protein response, have been implicated in the pathophysiology of noise-induced hearing loss. However, studies on the association between calcium homeostasis and stress pathways has been limited due to limited ability to measure calcium dynamics in mature-hearing, noise-exposed mice.
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