WebJun 9, 1998 · The CLN3 gene, which is responsible for Batten disease, was deduced to encode a predicted protein of 438 amino acids ().The majority of affected individuals carry a 1.02 kilobase deletion, which produced a frameshift mutation that leads to a predicted translation product of 181 amino acids, of which only the first 153 residues corresponded … WebSep 21, 2024 · CLN3 is required for the clearance of glycerophosphodiesters from lysosomes. Nature, ... Get the latest science news in your RSS reader with ScienceDaily's hourly updated newsfeeds, covering ...
CLN3, at the crossroads of endocytic trafficking - PubMed
WebJan 12, 2024 · That’s according to early data from an ongoing two-year Phase 1/2 clinical trial (NCT05174039) testing the experimental oral therapy.. In addition, the therapy’s … WebFeb 19, 2024 · Early trial data was presented by the company in the poster, “ An Open-Label, Phase 1/2a, AAV9-CLN3 Gene Transfer Clinical Trial for Juvenile Neuronal … community support grant birmingham
Batten Disease: What Is It, Symptoms, Cause & Outlook - Cleveland Clinic
WebProtein interaction mapping analysis suggests CLN3 is involved in transmembrane transport, lipid homeostasis, neuronal excitability and link it to G-protein signaling and protein folding/sorting in the endoplasmic reticulum. The data presented in this study provide novel insights into the role of CLN3 in late endosomal/lysosomal membrane ... WebNeuronal ceroid lipofuscinosis 3 (CLN3-NCL) is a rare condition that affects the nervous system. Symptoms may include rapidly progressive vision loss, developmental regression (loss of acquired milestones), cognitive decline, heart problems, seizures, speech disturbances, behavioral problems (including aggression), and movement abnormalities. WebThe CLN3 gene provides instructions for making a protein that is found in tissues throughout the body, yet its function is unclear. The CLN3 protein is found in many compartments … easy way to get up off the floor