Xavier Sánchez‐Sáez

ORCID: 0000-0001-5128-0979
Publications
Citations
Views
---
Saved
---
About
Contact & Profiles
Research Areas
  • Retinal Development and Disorders
  • Retinal Diseases and Treatments
  • Neuroinflammation and Neurodegeneration Mechanisms
  • Parkinson's Disease Mechanisms and Treatments
  • melanin and skin pigmentation
  • Retinal and Optic Conditions
  • Neuroscience and Neuropharmacology Research
  • Biochemical Analysis and Sensing Techniques
  • Retinal Imaging and Analysis
  • Single-cell and spatial transcriptomics
  • Glaucoma and retinal disorders
  • RNA regulation and disease
  • Redox biology and oxidative stress
  • Retinoids in leukemia and cellular processes
  • Photoreceptor and optogenetics research
  • Advanced Glycation End Products research
  • Biochemical effects in animals
  • Higher Education Teaching and Evaluation
  • Ion channel regulation and function
  • Connective tissue disorders research
  • Nerve injury and regeneration
  • RNA modifications and cancer
  • Saffron Plant Research Studies
  • Peroxisome Proliferator-Activated Receptors
  • Long-Term Effects of COVID-19

University of Alicante
2018-2025

Université Paris-Saclay
2024

Institut des Neurosciences Paris-Saclay
2024

Centre National de la Recherche Scientifique
2024

Universidad de Salamanca
2023

Centro de Biología Molecular Severo Ochoa
2020

Universidad Autónoma de Madrid
2020

John Wiley & Sons (United States)
2020

Hudson Institute
2020

Genomics England
2020

Considering the demonstrated implication of retina in Parkinson disease (PD) pathology and importance dopaminergic cells this tissue, we aimed to analyze state amacrine some their main postsynaptic neurons PD.Using immunohistochemistry confocal microscopy, evaluated morphology, number, synaptic connections cells, AII melanopsin-containing retinal ganglion control PD eyes from human donors.In PD, cell number was reduced between 58% 26% different regions, involving a decline contacts with (by...

10.1002/ana.25897 article EN Annals of Neurology 2020-09-03

This study assessed retinal cells in the macula of human donors with diabetes or without retinopathy. Seventeen donor retinas were classified as mellitus (DM, n = 7), diabetic retinopathy (DR, 3), control (n 8). Macular transversal sections analyzed for photoreceptors, bipolar cells, horizontal ganglion their synaptic connections, and Müller using immunohistochemistry confocal microscopy. The densities thickness inner plexiform layer (IPL) quantified around fovea. In macula, cone...

10.1167/iovs.66.3.53 article EN cc-by-nc-nd Investigative Ophthalmology & Visual Science 2025-03-25

Purpose: Retinitis pigmentosa (RP) is a blinding neurodegenerative disease of the retina that can be affected by many factors. The present study aimed to analyze effect different environmental light intensities in rd10 mice retina. Methods: C57BL/6J and were bred housed under three intensities: scotopic (5 lux), mesopic (50 photopic (300 lux). Visual function was studied using electroretinography optomotor testing. structural morphological integrity retinas evaluated optical coherence...

10.1167/iovs.61.10.1 article EN cc-by-nc-nd Investigative Ophthalmology & Visual Science 2020-08-03

Article16 November 2020free access Source DataTransparent process GSK3α, not GSK3β, drives hippocampal NMDAR-dependent LTD via tau-mediated spine anchoring Jonathan E Draffin orcid.org/0000-0002-1686-8504 Centro de Biología Molecular Severo Ochoa, CSIC-Universidad Autónoma Madrid, Spain Search for more papers by this author Carla Sánchez-Castillo Alba Fernández-Rodrigo Xavier Sánchez-Sáez Jesús Ávila orcid.org/0000-0002-6288-0571 Florence F Wagner orcid.org/0000-0001-8981-0330 Stanley Center...

10.15252/embj.2020105513 article EN public-domain The EMBO Journal 2020-11-16

Background/Aims: It is well established that oxidative stress and inflammation are common pathogenic features of retinal degenerative diseases.ITH12674 a novel compound induces the transcription factor Nrf2; in so doing, molecule exhibits anti-inflammatory, antioxidant properties, affords neuroprotection rat cortical neurons subjected to stress.We here tested hypothesis ITH12674 could slow degeneration causes blindness rd10 mice, model retinitis pigmentosa.Methods: Animals were...

10.33594/000000210 article EN cc-by-nc-nd Cellular Physiology and Biochemistry 2018-02-07

Different ocular alterations have been described in patients with coronavirus disease 2019 (COVID-19). Our aim was to determine whether COVID-19 affected retinal cells and establish correlations clinical parameters.Retinal sections flat-mount retinas from human donors (n = 16) controls 15) were immunostained. The location of angiotensin-converting enzyme 2 (ACE2) the morphology microglial cells, Müller astrocytes, photoreceptors analyzed by confocal microscopy. Microglial quantification area...

10.1186/s40662-023-00329-2 article EN cc-by Eye and Vision 2023-03-01

Abstract Background The main clinical symptoms characteristic of Parkinson’s disease (PD) are bradykinesia, tremor, and other motor deficits. However, non-motor symptoms, such as visual disturbances, can be identified at early stages the disease. One these is impairment motion perception. Hence, we sought to determine if starburst amacrine cells, which cellular type involved in direction selectivity, degenerated PD dopaminergic system related this degeneration. Methods Human eyes from...

10.1186/s40035-023-00348-y article EN cc-by Translational Neurodegeneration 2023-04-03

Ischemia is the main cause of cell death in retinal diseases such as vascular occlusions, diabetic retinopathy, glaucoma, or retinopathy prematurity. Although excitotoxicity considered primary mechanism during an ischemic event, antagonists glutamatergic receptors have been unsuccessful clinical trials with patients suffering ischemia stroke. Our purpose was to analyze if transient receptor potential channel 7 (TRPM7) could contribute dysfunction pathologies associated ischemia. By using...

10.3390/ijms242216068 article EN International Journal of Molecular Sciences 2023-11-08

Choroidal dystrophies comprise a group of chorioretinal degenerations. However, the different findings observed among these patients make it difficult to establish correct clinical diagnosis. The objective this study was characterize new by optical coherence tomography (OCT) and angiography (OCTA) in patients. Four family members with PRPH2 gene mutation (p.Arg195Leu) were included. OCT performed at macula, thickness outer inner retina, total choroid measured. features vascular network...

10.3390/diagnostics11050777 article EN cc-by Diagnostics 2021-04-26

Abstract Central areolar choroidal dystrophy is an inherited disorder characterized by progressive choriocapillaris atrophy and retinal degeneration usually associated with mutations in the PRPH2 gene. We aimed to generate characterize a mouse model p.Arg195Leu mutation previously described patients. Heterozygous ( Prph2 WT/KI ) homozygous KI/KI mice were generated using CRISPR/Cas9 system introduce mutation. Retinal function was assessed electroretinography optomotor tests at 1, 3, 6, 9,...

10.1038/s41419-023-06243-8 article EN cc-by Cell Death and Disease 2023-11-01

The purinergic receptor P2X7 (P2X7R) is implicated in all neurodegenerative diseases of the central nervous system. It also involved retinal degeneration associated with glaucoma, age-related macular degeneration, and diabetic retinopathy, its overexpression retina evident these disorders. Retinitis pigmentosa a progressive degenerative disease that ultimately leads to blindness. Here, we investigated expression P2X7R during progression rd10 mouse model RP. As P2X4 widely co-expressed P2X7R,...

10.3390/ijms232314758 article EN International Journal of Molecular Sciences 2022-11-25

Purpose: We aimed to generate and phenotype a mouse model of foveal hypoplasia, optic nerve decussation defects, anterior segment dysgenesis (FHONDA), rare disease associated with mutations in Slc38a8 that causes severe visual alterations similar albinism without affecting pigmentation. Methods: The FHONDA was generated clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 technology using an RNA guide targeting the Scl38a8 murine locus. resulting mice were backcrossed...

10.1167/iovs.64.13.32 article EN cc-by-nc-nd Investigative Ophthalmology & Visual Science 2023-10-20

Summary Purpose We aimed to generate and phenotype a mouse model of FHONDA (Foveal Hypoplasia, Optic Nerve Decussation Defects, Anterior Segment Dysgenesis), rare disease associated with mutations in SLC38A8 that causes severe visual alterations similar albinism without affecting pigmentation. Methods The was generated CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats)/Cas9 technology using an RNA guide targeting the Scl38a8 murine locus. resulting mice were backcrossed...

10.1101/2023.08.19.553949 preprint EN cc-by-nc-nd bioRxiv (Cold Spring Harbor Laboratory) 2023-08-19

Abstract Purpose Central areolar choroidal dystrophy is an inherited disorder characterized by progressive choriocapillaris atrophy and retinal degeneration, usually associated with mutations in the PRPH2 gene. We aimed to generate characterize a mouse model p.Arg195Leu mutation previously described patients. Methods Heterozygous ( Prph2 WT/KI ) homozygous KI/KI mice have been generated using CRISPR/Cas9 system introduce Arg195Leu mutation. Retinal function was assessed electroretinography...

10.21203/rs.3.rs-3221362/v1 preprint EN cc-by Research Square (Research Square) 2023-09-08

Abstract The rd10 mouse is a model of autosomal recessive retinitis pigmentosa (RP). This animal carries mutation in the Pde6b gen that generates progressive loss photoreceptors which leads to complete blindness. aim this study was evaluate effect environmental light intensity on degenerative process model. Three mice groups have been exposed from birth P30 different intensities: low (5 lux), medium (50 lux) and high (300 intensity. Age‐matching C57BL/6J were used as controls. At end...

10.1111/j.1755-3768.2019.5466 article EN Acta Ophthalmologica 2019-12-01

Abstract Purpose The presence of SARS‐CoV‐2 in the eye and different alterations ocular tissues have been described. However, health state retinal cells these patients is unknown. aim was to analyze morphology glial activation human donor deceased by COVID‐19. Methods Retinas from donors with COVID‐19 ( n = 9) a group control 5) were analyzed. Samples obtained General University Hospital Consortium Valencia. Photoreceptors, Müller cells, astrocytes, microglia blood vessels location ACE2...

10.1111/j.1755-3768.2022.215 article EN Acta Ophthalmologica 2022-01-01
Coming Soon ...