Cellular and molecular basis of sensory disorders

Summary

The group undertakes the challenges of treating sensory disorders and preserving sensory functions during ageing, through the study of original animal models in the vestibular system and retina. The group develops models which enable it to obtain therapeutically relevant information on these highly complex sensory systems through the use of first-line methodologies, such as super-resolution fluorescence microscopy, RNA-seq and proteomics.

149 Publications

208-basescelmoltrastsensorials-jllorens-def

Strategic lines

Study of cellular and molecular mechanisms of vestibular dysfunction using chronic toxicity models and in vitro models
Rodent models to assess vestibular function
Zebrafish models to study hair cell degeneration
Causes of vestibular loss in vestibular schwannoma patients
Photoreceptor cell physiology
Molecular and cellular basis of light adaptation
Phosphoproteome of the dark/light retina
Retinal metabolism
Polarized ciliary trafficking in photoreceptor cells
Mouse models of inherited retinal dystrophies and testing of new therapeutic approaches

Selected Publications

Borrajo,M;Sedano,D;Palou,A;Giménez Esbrí,V;Barrallo Gimeno,A;Llorens,J, Maturation of type I and type II rat vestibular hair cells in vivo and in vitro, Front Cell Dev Biol, 2024;121404894-1404894, doi:10.3389/fcell.2024.1404894
Vigués Jorba,L;Lorenzo,D;Pujadas,C;Morwani,R;Yamamoto Rodriguez,L;Baradad Jurjo,M;Arias,L et al, Intralesional Vessel Diameter Measured by Optical Coherence Tomography Angiography Could Improve the Differential Diagnosis of Small Melanocytic Choroidal Lesions, Cancers, 2024;16(12):doi:10.3390/cancers16122167
Gaitán Peñas,H;Pérez Rius,C;Muhaisen,A;Castellanos,A;Errasti Murugarren,E;Barrallo Gimeno,A;Alcaraz Pérez,F et al, Characterization of ClC-1 chloride channels in zebrafish: a new model to study myotonia, J Physiol, 2024;602(16):3975-3994, doi:10.1113/JP286530
Duminy Luppi,D;Alcaide Aldeano,A;Planas Cerezales,L;Bermudo,G;Vicens Zygmunt,V;Luburich,P;Del Rio Carrero,B et al, Diagnostic and prognostic implications of family history of fibrotic interstitial lung diseases, Respir Res, 2024;25(1):433-433, doi:10.1186/s12931-024-03063-y
Esteve Garcia,A;Cobos,E;Sau,C;Padró Miquel,A;Catalá Mora,J;Barberán Martínez,P;Millán,JM et al, Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype, Front Genet, 2024;151352063-1352063, doi:10.3389/fgene.2024.1352063

Selected Projects

2023-193-1. GLOBAL PATIENT REGISTRY OF INHERITED RETINAL DISEASES.. Janssen-Cilag International N.V.. Budget: 25.980€. 2024-2999. PI: ESTEFANIA COBOS MARTIN.
PUB22015. Aplicació de noves tecnologies moleculars en el diagnòstic genètic de les distròfies hereditàries de retina. Hospital Universitario de Bellvitge. Budget: 20.000€. 2022-2025. PI: COBOS MARTIN, ESTEFANIA.
2023-277-1. IDENTIFICACIÓN DE BIOMARCADORES PARA MEDIR LA EFICACIA DE LA TERAPIA GÉNICA OCULAR. 2023- . PI: ESTEFANIA COBOS MARTIN.
2023-307-1. NON-INTERVENTIONAL STUDY TO DETERMINE THE DISTRIBUTION OF DEFINITELY DECREASED AUTOFLUORESCENCE (DDAF) LESIONS IN CHILDREN AND ADULTS WITH MACULAR ATROPHY SECONDARY TO STARGARDT DISEASE TYPE 1 (STGD1).. ALNYLAM PHARMACEUTICALS, INC. 2023- . PI: ESTEFANIA COBOS MARTIN.
2025-068-1. EXPANDING THE CLINICAL SPECTRUM OF CEP290 VARIANTS: A CASE REPORT ON NON-SYNDROMIC RETINAL DYSTROPHY WITH A MILD PHENOTYPE. 2024- . PI: Anna Esteve Garcia.

More Information

Identification of nitriles as a new family of compounds with vestibular toxicity.
Basic animal models for the ablation of capillary cells in the vestibular system of mice.
Identification of synaptic decoupling and extrusion of capillary cells as the main events in chronic vestibular toxicity.
Characterisation of the role of GCAP proteins in light responses.
Identification of GCAP2 as a mediator of light damage, involved in the pathophysiology of “light” genetic disorders.