A5022495847- Hearing, Cochlea, Tinnitus, Genetics
- Vestibular and auditory disorders
- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- Ion Channels and Receptors
- Autism Spectrum Disorder Research
- Child Development and Digital Technology
- Bat Biology and Ecology Studies
- Cellular transport and secretion
- Cancer-related molecular mechanisms research
Boston Children's Hospital
2022-2025
Harvard University
2022-2025
Université de Bordeaux
2019-2024
Inserm
2020-2023
Institut Pasteur
2020-2023
Imaging Center
2022
Hearing loss is a major health concern affecting millions of people worldwide with currently limited treatment options. In clarin-2-deficient Clrn2
Hearing depends on fast and sustained calcium-dependent synaptic vesicle fusion at the ribbon synapses of cochlear inner hair cells (IHCs). The implication canonical neuronal SNARE complex in this exocytotic process has so far remained controversial. We investigated role SNAP-25, a key component complex, hearing, by generating analyzing conditional knockout mouse model allowing targeted postnatal deletion Snap-25 IHCs. Mice subjected to IHC inactivation after hearing onset developed severe...
Age-related hidden hearing loss is often described as a cochlear synaptopathy that results from progressive degeneration of the inner hair cell (IHC) ribbon synapses. The functional changes occurring at these synapses during aging are not fully understood. Here, we characterized this process in IHCs C57BL/6J mice, strain which known to carry cadherin-23 mutation and experiences early with age. These while displaying large increase auditory brainstem thresholds due 50% IHC synaptic ribbons...
Article26 August 2019Open Access Transparent process Clarin-2 is essential for hearing by maintaining stereocilia integrity and function Lucy A Dunbar Mammalian Genetics Unit, MRC Harwell Institute, Harwell, UK Search more papers this author Pranav Patni Déficits Sensoriels Progressifs, Institut Pasteur, INSERM UMR-S 1120, Sorbonne Universités, Paris, France Carlos Aguilar Philomena Mburu Laura Corns Department of Biomedical Science, University Sheffield, Helena RR Wells Twin Research &...
Hyperacusis, i.e., an increased sensitivity to sounds, is described in several neurodevelopmental disorders (NDDs), including Fragile X Syndrome (FXS). The mechanisms underlying hyperacusis FXS are still largely unknown and effective therapies lacking. Big conductance calcium-activated potassium (BKCa) channels were proposed as a therapeutic target treat behavioral disturbances preclinical models, but their role mediating auditory alterations was not specifically addressed. Furthermore,...
Hyperacusis, i.e., an increased sensitivity to sounds, is described in several neurodevelopmental disorders (NDDs), including Fragile X Syndrome (FXS). The mechanisms underlying hyperacusis FXS are still largely unknown and effective therapies lacking. Big conductance calci-um-activated potassium (BKCa) channels have been proposed as a therapeutic target treat behavioral disturbances preclinical models, but their role mediating au-ditory alterations has not specifically addressed....
Peroxisome Biogenesis Disorders (PBD) and Zellweger syndrome spectrum disorders (ZSD) are rare genetic multisystem that include hearing impairment associated with defects in peroxisome assembly, function, or both. Mutations 13 peroxin (PEX) genes have been found to cause PBD-ZSD ~70% of patients harboring mutations PEX1. Limited research has focused on the impact peroxisomal auditory function. As sensory hair cells particularly vulnerable metabolic changes, we hypothesize PEX1 lead oxidative...
ABSTRACT Age-related hidden hearing loss is often described as a cochlear synaptopathy that results from progressive degeneration of the inner hair cell (IHC) ribbon synapses. The functional changes occurring at these synapses during aging are not fully understood. Here, we characterized this process in IHCs C57BL/6J mice, strain which known to carry cadherin23 mutation and experiences early with age. These while displaying large increase auditory brainstem thresholds due 50 % IHC synaptic...