Inherited retinal diseases: linking genes, disease-causing variants, and relevant therapeutic modalities
N Schneider, Y Sundaresan, P Gopalakrishnan… - Progress in retinal and …, 2022 - Elsevier
Inherited retinal diseases (IRDs) are a clinically complex and heterogenous group of visual
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …
The essential role of docosahexaenoic acid and its derivatives for retinal integrity
D Swinkels, M Baes - Pharmacology & Therapeutics, 2023 - Elsevier
The fatty acid composition of photoreceptor outer segment (POS) phospholipids diverges
from other membranes, being highly enriched in polyunsaturated fatty acids (PUFAs). The …
from other membranes, being highly enriched in polyunsaturated fatty acids (PUFAs). The …
Causes and consequences of inherited cone disorders
S Roosing, AAHJ Thiadens, CB Hoyng… - Progress in retinal and …, 2014 - Elsevier
Hereditary cone disorders (CDs) are characterized by defects of the cone photoreceptors or
retinal pigment epithelium underlying the macula, and include achromatopsia (ACHM), cone …
retinal pigment epithelium underlying the macula, and include achromatopsia (ACHM), cone …
Understanding the roles of very-long-chain polyunsaturated fatty acids (VLC-PUFAs) in eye health
U Nwagbo, PS Bernstein - Nutrients, 2023 - mdpi.com
Lipids serve many roles in the neural system, from synaptic stabilization and signaling to
DNA regulation and neuroprotection. They also regulate inflammatory responses, maintain …
DNA regulation and neuroprotection. They also regulate inflammatory responses, maintain …
Adiponectin receptor 1 conserves docosahexaenoic acid and promotes photoreceptor cell survival
DS Rice, JM Calandria, WC Gordon, B Jun… - Nature …, 2015 - nature.com
The identification of pathways necessary for photoreceptor and retinal pigment epithelium
(RPE) function is critical to uncover therapies for blindness. Here we report the discovery of …
(RPE) function is critical to uncover therapies for blindness. Here we report the discovery of …
ELOVL5 mutations cause spinocerebellar ataxia 38
Spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal-dominant
neurodegenerative disorders involving the cerebellum and 23 different genes. We mapped …
neurodegenerative disorders involving the cerebellum and 23 different genes. We mapped …
Photoreceptor metabolic reprogramming: current understanding and therapeutic implications
Acquired and inherited retinal disorders are responsible for vision loss in an increasing
proportion of individuals worldwide. Photoreceptor (PR) death is central to the vision loss …
proportion of individuals worldwide. Photoreceptor (PR) death is central to the vision loss …
Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and …
M Cadieux-Dion, M Turcotte-Gauthier, A Noreau… - JAMA …, 2014 - jamanetwork.com
Importance The autosomal dominant spinocerebellar ataxias (SCAs) are a complex group of
neurodegenerative disorders with significant genetic heterogeneity. Despite the …
neurodegenerative disorders with significant genetic heterogeneity. Despite the …
Palmitic acid lipotoxicity in microglia cells is ameliorated by unsaturated fatty acids
CJ Urso, H Zhou - International Journal of Molecular Sciences, 2021 - mdpi.com
Obesity and metabolic syndrome are associated with cognitive decline and dementia.
Palmitic acid (PA) is increased in the cerebrospinal fluid of obese patients with cognitive …
Palmitic acid (PA) is increased in the cerebrospinal fluid of obese patients with cognitive …
[HTML][HTML] ELOVL4: Very long-chain fatty acids serve an eclectic role in mammalian health and function
Abstract ELOngation of Very Long chain fatty acids-4 (ELOVL4) is an elongase responsible
for the biosynthesis of very long chain (VLC,≥ C28) saturated (VLC-SFA) and …
for the biosynthesis of very long chain (VLC,≥ C28) saturated (VLC-SFA) and …