From Mutation to Mechanism: an Approach to Understand Photoreceptors Function
FROM MUTATION TO MECHANISM: AN APPROACH TO UNDERSTAND PHOTORECEPTORS FUNCTION From Mutation to Mechanism: an Approach to Understand Photoreceptors Function / La Greca, Mariafrancesca (Rights reserved) (-
La Greca, Mariafrancesca
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Clinical and molecular features of PRCD‐associated retinopathy
Acta Ophthalmologica, EarlyView.Abstract Purpose To describe the clinical and genetic characteristics of patients with biallelic disease‐causing variants in the PRCD (Progressive Rod‐Cone Degeneration) gene. Methods Multicentre, retrospective cohort study of 19 patients from 13 families across nine reference centres in six countries.
Vasil Kostin +30 more
wiley +1 more source
The Oxidative-Mitochondrial-Inflammatory Axis in Retinitis Pigmentosa: Extracellular mtDNA as Biomarker and Therapeutic Read-Out. [PDF]
Antioxidants (Basel)Grimaldi R, Franco F, Vingolo EM.
europepmc +1 more source
Acta Ophthalmologica, EarlyView.Abstract Purpose Fovea‐sparing geographic atrophy (GA) patients retain near‐normal central vision. To better understand GA progression in relation to the fovea, we performed a semi‐automated image analysis of regional atrophy growth in a long‐term GA natural‐history cohort. Methods Prospective‐observational, single‐centre‐study (02/2013–07/2025) at the
Daniel R. Muth +8 more
wiley +1 more source
Retinol-binding protein 3 in ophthalmology: current evidence, research progress, and future perspectives. [PDF]
Front ImmunolLi M, Liang R, Guo S, Zhou X.
europepmc +1 more source
Acta Zoologica, EarlyView.ABSTRACT Marine gastrotrichs inhabit sediments with limited available light, yet evidence suggests that photoreceptor organs are present throughout the phylum Gastrotricha. Here, we confirm this proposition with ultrastructural descriptions of photoreceptive organs in two species of Xenotrichulidae (Order Chaetonotida) that lack pigmented ocelli ...
Thiago Quintão Araújo, Rick Hochberg
wiley +1 more source
The positive correlation between the progressive photoreceptor damage and the increased macular leakage indicating the severity of diabetic retinopathy. [PDF]
J Diabetes InvestigFang Q +9 more
europepmc +1 more source
A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8
Brain Pathology, EarlyView.We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Ulrika Lindgren +5 more
wiley +1 more source
Ten-Eleven Translocation Enzymes Control the Rate and Mode of Retinal Progenitor Cell Division in the Developing Retina. [PDF]
FASEB JDvoriantchikova G +3 more
europepmc +1 more source
Clinical &Experimental Ophthalmology, EarlyView.ABSTRACT Background The lack of validated and sensitive clinical endpoints remains a major challenge in the design of gene therapy trials for inherited retinal dystrophies (IRDs). This prospective longitudinal cohort study describes the natural disease progression of IRDs caused by pathogenic mutations in the Crumbs homologue 1 (CRB1) gene, and ...
Jessica S. Karuntu +15 more
wiley +1 more source