ArticleProceedings of the National Academy of Sciences of the United States of America2013
Progressive hearing loss and gradual deterioration of sensory hair bundles in the ears of mice lacking the actin-binding protein Eps8L2.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers.
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Who cites it
61 citing papers in PubMed, 88 citations in OpenAlex.
- Rescue of stereocilia architecture and hearing function by AAV-CIB2 and AAV-CIB3 in a mouse model of recessive deafness DFNB48.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Article
- Functional impact of genetic background on variable expressivity in neurodevelopmental disorders.Nature communications · 2026Article
- Dual Genetic Diagnosis of Prader-Willi Syndrome and TMC1-Related Severe Congenital Hearing Loss: Diagnostic Challenges and Cochlear Implant Outcomes.Diagnostics (Basel, Switzerland) · 2026Article
- Expansion of Molecular and Clinical Aspects of EPS8L2 (DFNB106)-Associated Hearing Loss Emphasizes a Potential Therapeutic Window.Molecular neurobiology · 2026Article
- Liquid-Liquid Phase Separation in Hereditary Hearing Loss.Neuroscience bulletin · 2025Review
- EPS8L2 drives colorectal cancer cell proliferation and migration via YBX1-dependent activation of G3BP2 transcription.Cell death & disease · 2025Article
- An integrated framework for functional dissection of variable expressivity in genetic disorders.medRxiv : the preprint server for health sciences · 2025Article
- mRNA metabolism regulator human antigen R (HuR) regulates age-related hearing loss in aged mice.Nature aging · 2025Article
- CIB2 function is distinct from that of whirlin in the organization of sterocilia architecture.Disease models & mechanisms · 2025Article
- Organization of a cytoskeletal superstructure in the apical domain of intestinal tuft cells.The Journal of cell biology · 2024Article
- Chromosome-level genome and population genomics of the intermediate horseshoe bat (Zoological research · 2024Article
- CIB2 function is distinct from Whirlin in the development of cochlear stereocilia staircase pattern.bioRxiv : the preprint server for biology · 2024Article
- Comparative immunohistochemical analysis suggests a conserved role of EPS8L1 in epidermal and hair follicle barriers of mammals.Protoplasma · 2024Article
- The actin cytoskeleton in hair bundle development and hearing loss.Hearing research · 2023Review
- Spontaneous allelic variant in deafness-blindness gene Ush1g resulting in an expanded phenotype.Genes, brain, and behavior · 2023Article
- CIB2 and CIB3 Regulate Stereocilia Maintenance and Mechanoelectrical Transduction in Mouse Vestibular Hair Cells.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2023Article
- Control of stereocilia length during development of hair bundles.PLoS biology · 2023Article
- The morphological and functional diversity of apical microvilli.Journal of anatomy · 2023Review
- Liquid-liquid phase separation in hair cell stereocilia development and maintenance.Computational and structural biotechnology journal · 2023Review
- Review
1 more citing papers are in PubMed but not listed here.
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Authors and funding
20 authors at 9 institutions in 4 countries.
Funding
Abstract
Mechanotransduction in the mammalian auditory system depends on mechanosensitive channels in the hair bundles that project from the apical surface of the sensory hair cells. Individual stereocilia within each bundle contain a core of tightly packed actin filaments, whose length is dynamically regulated during development and in the adult. We show that the actin-binding protein epidermal growth factor receptor pathway substrate 8 (Eps8)L2, a member of the Eps8-like protein family, is a newly identified hair bundle protein that is localized at the tips of stereocilia of both cochlear and vestibular hair cells. It has a spatiotemporal expression pattern that complements that of Eps8. In the cochlea, whereas Eps8 is essential for the initial elongation of stereocilia, Eps8L2 is required for their maintenance in adult hair cells. In the absence of both proteins, the ordered staircase structure of the hair bundle in the cochlea decays. In contrast to the early profound hearing loss associated with an absence of Eps8, Eps8L2 null-mutant mice exhibit a late-onset, progressive hearing loss that is directly linked to a gradual deterioration in hair bundle morphology. We conclude that Eps8L2 is required for the long-term maintenance of the staircase structure and mechanosensory function of auditory hair bundles. It complements the developmental role of Eps8 and is a candidate gene for progressive age-related hearing loss.
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