Associated Papers
Diabetic retinopathy and Alzheimer's disease: Convergence of the unfolded protein response in neurodegeneration.
Palacios AG et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025
RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model - In Preparation for Clinical Trials.
Daich Varela M et al.
Investigative Ophthalmology & Visual Science, 2025
RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.
Trastulli G et al.
Genes, 2024
Rhodopsin mislocalization drives ciliary dysregulation in a novel autosomal dominant retinitis pigmentosa knock-in mouse model.
Takita S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
Cells Special Issue: "The Molecular and Cellular Basis of Retinal Diseases".
Pittler SJ et al.
Cells, 2023
CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin.
Kaukonen M et al.
Genes, 2022
The role of motor proteins in photoreceptor protein transport and visual function.
Radhakrishnan R et al.
Ophthalmic Genetics, 2022
Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
Liu W et al.
Bmc Ophthalmology, 2021
Proinflammatory Pathways Are Activated in the Human Q344X Rhodopsin Knock-In Mouse Model of Retinitis Pigmentosa.
Hollingsworth TJ et al.
Biomolecules, 2021
Identification of additional outer segment targeting signals in zebrafish rod opsin.
Fang X et al.
Journal of Cell Science, 2021
Innate and Autoimmunity in the Pathogenesis of Inherited Retinal Dystrophy.
Hollingsworth TJ et al.
Cells, 2020
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Wan A et al.
Human Mutation, 2019
High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa.
Ezquerra-Inchausti M et al.
Scientific Reports, 2017
Aberrant protein trafficking in retinal degenerations: The initial phase of retinal remodeling.
Bales KL et al.
Experimental Eye Research, 2016
An activated unfolded protein response promotes retinal degeneration and triggers an inflammatory response in the mouse retina.
Rana T et al.
Cell Death & Disease, 2014
The severe autosomal dominant retinitis pigmentosa rhodopsin mutant Ter349Glu mislocalizes and induces rapid rod cell death.
Hollingsworth TJ et al.
The Journal of Biological Chemistry, 2013
Functional characterization of novel melanocortin-3 receptor mutations identified from obese subjects.
Tao YX
Biochimica Et Biophysica Acta, 2007
Defective development of photoreceptor membranes in a mouse model of recessive retinal degeneration.
Gross AK et al.
Vision Research, 2006
A role for rhodopsin in a signal transduction cascade that regulates membrane trafficking and photoreceptor polarity.
Deretic D
Vision Research, 2006
Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu). Mutations in brief no. 208. Online.
Bessant DA et al.
Human Mutation, 1999
A review of the immunologic findings observed in retinitis pigmentosa.
McMurtrey JJ et al.
Survey of Ophthalmology, 0