Cargando…

A Splice Variant in SLC16A8 Gene Leads to Lactate Transport Deficit in Human iPS Cell-Derived Retinal Pigment Epithelial Cells

Age-related macular degeneration (AMD) is a blinding disease for which most of the patients remain untreatable. Since the disease affects the macula at the center of the retina, a structure specific to the primate lineage, rodent models to study the pathophysiology of AMD and to develop therapies ar...

Descripción completa

Detalles Bibliográficos
Autores principales:	Klipfel, Laurence, Cordonnier, Marie, Thiébault, Léa, Clérin, Emmanuelle, Blond, Frédéric, Millet-Puel, Géraldine, Mohand-Saïd, Saddek, Goureau, Olivier, Sahel, José-Alain, Nandrot, Emeline F., Léveillard, Thierry
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7831140/ https://www.ncbi.nlm.nih.gov/pubmed/33477551 http://dx.doi.org/10.3390/cells10010179

Ejemplares similares

Otx2-Genetically Modified Retinal Pigment Epithelial Cells Rescue Photoreceptors after Transplantation
por: Kole, Christo, et al.
Publicado: (2018)

℮-conome: an automated tissue counting platform of cone photoreceptors for rodent models of retinitis pigmentosa
por: Clérin, Emmanuelle, et al.
Publicado: (2011)

Transplantation of Photoreceptor and Total Neural Retina Preserves Cone Function in P23H Rhodopsin Transgenic Rat
por: Yang, Ying, et al.
Publicado: (2010)

The metabolic signaling of the nucleoredoxin-like 2 gene supports brain function
por: Jaillard, Céline, et al.
Publicado: (2021)

Metabolic and Redox Signaling of the Nucleoredoxin-Like-1 Gene for the Treatment of Genetic Retinal Diseases
por: Clérin, Emmanuelle, et al.
Publicado: (2020)

Identification of an Alternative Splicing Product of the Otx2 Gene Expressed in the Neural Retina and Retinal Pigmented Epithelial Cells
por: Kole, Christo, et al.
Publicado: (2016)

Vibratome Sectioning Mouse Retina to Prepare Photoreceptor Cultures
por: Clérin, Emmanuelle, et al.
Publicado: (2014)

Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy
por: El Shamieh, Said, et al.
Publicado: (2017)

A Mathematical Analysis of Aerobic Glycolysis Triggered by Glucose Uptake in Cones
por: Camacho, Erika T., et al.
Publicado: (2019)

Novel grading system for quantification of cystic macular lesions in Usher syndrome
por: Sliesoraityte, Ieva, et al.
Publicado: (2015)

Modeling PRPF31 retinitis pigmentosa using retinal pigment epithelium and organoids combined with gene augmentation rescue
por: Rodrigues, Amélie, et al.
Publicado: (2022)

Mechanisms Underlying the Visual Benefit of Cell Transplantation for the Treatment of Retinal Degenerations
por: Léveillard, Thierry, et al.
Publicado: (2019)

Argus II retinal prosthesis implantation with scleral flap and autogenous temporalis fascia as alternative patch graft material: a 4-year follow-up
por: Matet, Alexandre, et al.
Publicado: (2016)

Odysight: A Mobile Medical Application Designed for Remote Monitoring—A Prospective Study Comparison with Standard Clinical Eye Tests
por: Brucker, Julie, et al.
Publicado: (2019)

Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia
por: Matet, Alexandre, et al.
Publicado: (2018)

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases
por: Audo, Isabelle, et al.
Publicado: (2012)

The development of white matter structural changes during the process of deterioration of the visual field
por: Hofstetter, Shir, et al.
Publicado: (2019)

Author Correction: The development of white matter structural changes during the process of deterioration of the visual field
por: Hofstetter, Shir, et al.
Publicado: (2021)

Chronic exposure to tumor necrosis factor alpha induces retinal pigment epithelium cell dedifferentiation
por: Touhami, Sara, et al.
Publicado: (2018)

Functional Genomics of the Retina to Elucidate its Construction and Deconstruction
por: Blond, Frédéric, et al.
Publicado: (2019)

Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy
por: Zeitz, Christina, et al.
Publicado: (2021)

Expression of Rod-Derived Cone Viability Factor: Dual Role of CRX in Regulating Promoter Activity and Cell-Type Specificity
por: Lambard, Sophie, et al.
Publicado: (2010)

Assessing Photoreceptor Status in Retinal Dystrophies: From High-Resolution Imaging to Functional Vision
por: Sahel, José-Alain, et al.
Publicado: (2021)

Reading Visual Braille with a Retinal Prosthesis
por: Lauritzen, Thomas Z., et al.
Publicado: (2012)

Reorganization of early visual cortex functional connectivity following selective peripheral and central visual loss
por: Sabbah, Norman, et al.
Publicado: (2017)

Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy
por: Gabrielle, Pierre-Henry, et al.
Publicado: (2021)

Insulin inhibits inflammation-induced cone death in retinal detachment
por: Conart, Jean-Baptiste, et al.
Publicado: (2020)

Safety of Intravitreal Gene Therapy for Treatment of Subjects with Leber Hereditary Optic Neuropathy due to Mutations in the Mitochondrial ND4 Gene: The REVEAL Study
por: Vignal-Clermont, Catherine, et al.
Publicado: (2021)

Metabolic and redox signaling in the retina
por: Léveillard, Thierry, et al.
Publicado: (2016)

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports
por: Audo, Isabelle, et al.
Publicado: (2010)

Near-infrared fundus autofluorescence alterations correlate with swept-source optical coherence tomography angiography findings in patients with retinitis pigmentosa
por: Nassisi, Marco, et al.
Publicado: (2021)

Targeted Next Generation Sequencing Identifies Novel Mutations in RP1 as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy
por: El Shamieh, Said, et al.
Publicado: (2015)

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
por: Audo, Isabelle, et al.
Publicado: (2011)

Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved “One-Hit” Cohort with Stargardt Disease
por: Nassisi, Marco, et al.
Publicado: (2019)

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies
por: Boulanger-Scemama, Elise, et al.
Publicado: (2019)

Activated monocytes resist elimination by retinal pigment epithelium and downregulate their OTX2 expression via TNF‐α
por: Mathis, Thibaud, et al.
Publicado: (2016)

Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush
por: Fakin, Ana, et al.
Publicado: (2021)

Preclinical safety studies of human embryonic stem cell‐derived retinal pigment epithelial cells for the treatment of age‐related macular degeneration
por: Petrus‐Reurer, Sandra, et al.
Publicado: (2020)

Profiling the microRNA Expression in Human iPS and iPS-derived Retinal Pigment Epithelium
por: Wang, Heuy-Ching, et al.
Publicado: (2014)

Use of suppression subtractive hybridization to identify genes regulated by ciliary neurotrophic factor in postnatal retinal explants
por: Roger, Jérôme, et al.
Publicado: (2007)

Cannot write session to /tmp/vufind_sessions/sess_nubl2iq98oj7hpk96jne9jh1ss