Deafness: from genetic architecture to gene therapy
Progress in deciphering the genetic architecture of human sensorineural hearing
impairment (SNHI) or loss, and multidisciplinary studies of mouse models, have led to the …
impairment (SNHI) or loss, and multidisciplinary studies of mouse models, have led to the …
Membrane repair: mechanisms and pathophysiology
ST Cooper, PL McNeil - Physiological reviews, 2015 - journals.physiology.org
Eukaryotic cells have been confronted throughout their evolution with potentially lethal
plasma membrane injuries, including those caused by osmotic stress, by infection from …
plasma membrane injuries, including those caused by osmotic stress, by infection from …
[HTML][HTML] Mapping the fine-scale organization and plasticity of the brain vasculature
The cerebral vasculature is a dense network of arteries, capillaries, and veins. Quantifying
variations of the vascular organization across individuals, brain regions, or disease models …
variations of the vascular organization across individuals, brain regions, or disease models …
Dual AAV-mediated gene therapy restores hearing in a DFNB9 mouse model
O Akil, F Dyka, C Calvet, A Emptoz… - Proceedings of the …, 2019 - National Acad Sciences
Autosomal recessive genetic forms (DFNB) account for most cases of profound congenital
deafness. Adeno-associated virus (AAV)-based gene therapy is a promising therapeutic …
deafness. Adeno-associated virus (AAV)-based gene therapy is a promising therapeutic …
Sensory processing at ribbon synapses in the retina and the cochlea
T Moser, CP Grabner, F Schmitz - Physiological reviews, 2020 - journals.physiology.org
In recent years, sensory neuroscientists have made major efforts to dissect the structure and
function of ribbon synapses which process sensory information in the eye and ear. This …
function of ribbon synapses which process sensory information in the eye and ear. This …
Initial sequencing and comparative analysis of the mouse genome
European Bioinformatics Institute: Birney Ewan 3 … - Nature, 2002 - nature.com
The sequence of the mouse genome is a key informational tool for understanding the
contents of the human genome and a key experimental tool for biomedical research. Here …
contents of the human genome and a key experimental tool for biomedical research. Here …
A dual‐AAV approach restores fast exocytosis and partially rescues auditory function in deaf otoferlin knock‐out mice
Normal hearing and synaptic transmission at afferent auditory inner hair cell (IHC) synapses
require otoferlin. Deafness DFNB 9, caused by mutations in the OTOF gene encoding …
require otoferlin. Deafness DFNB 9, caused by mutations in the OTOF gene encoding …
Hair cell transduction, tuning, and synaptic transmission in the mammalian cochlea
R Fettiplace - Comprehensive Physiology, 2011 - Wiley Online Library
Sound pressure fluctuations striking the ear are conveyed to the cochlea, where they vibrate
the basilar membrane on which sit hair cells, the mechanoreceptors of the inner ear …
the basilar membrane on which sit hair cells, the mechanoreceptors of the inner ear …
[HTML][HTML] Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse
The auditory inner hair cell (IHC) ribbon synapse operates with an exceptional temporal
precision and maintains a high level of neurotransmitter release. However, the molecular …
precision and maintains a high level of neurotransmitter release. However, the molecular …