List of works - Isabelle Perfettini

An unusually powerful mode of low-frequency sound interference due to defective hair bundles of the auditory outer hair cells

scientific article

Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons.

scientific article published in April 2002

Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells

scientific journal article

Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth

scientific article

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

scientific journal article

Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes

scientific article published in November 2015

Interaction of protocadherin-15 with the scaffold protein whirlin supports its anchoring of hair-bundle lateral links in cochlear hair cells

scientific article published on 02 October 2020

Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice

scientific article

Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness

scientific article

Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle

scientific article

Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly

scientific journal article

Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse

scientific article

Pejvakin-mediated pexophagy protects auditory hair cells against noise-induced damage

scientific article published on 01 April 2019

Shroom2, a myosin-VIIa- and actin-binding protein, directly interacts with ZO-1 at tight junctions

scientific journal article

Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death

scientific article

Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia

scientific article

Vezatin, an integral membrane protein of adherens junctions, is required for the sound resilience of cochlear hair cells

scientific article

List of works by Isabelle Perfettini

An unusually powerful mode of low-frequency sound interference due to defective hair bundles of the auditory outer hair cells

Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons.

Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells

Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes

Interaction of protocadherin-15 with the scaffold protein whirlin supports its anchoring of hair-bundle lateral links in cochlear hair cells

Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice

Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness

Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle

Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly

Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse

Pejvakin-mediated pexophagy protects auditory hair cells against noise-induced damage

Shroom2, a myosin-VIIa- and actin-binding protein, directly interacts with ZO-1 at tight junctions

Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death

Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia

Vezatin, an integral membrane protein of adherens junctions, is required for the sound resilience of cochlear hair cells