Dec 24, 2024 · CLN3 (CLN3 Lysosomal/Endosomal Transmembrane Protein, Battenin) is a Protein Coding gene. Diseases associated with CLN3 include Ceroid Lipofuscinosis, Neuronal, …

Oct 27, 2016 · Juvenile CLN3 disease is caused by changes (mutations) of the CLN3 gene and is inherited as an autosomal recessive trait. It is the most common form of NCL, is found …

CLN3 disease is an inherited disorder that primarily affects the nervous system. After 4 to 6 years of normal development, children with this condition develop vision impairment, intellectual …

Jul 3, 2023 · Nature Communications - CLN3 mutations cause Batten disease, a devastating neurodegenerative lysosomal storage disease. Here, the authors discovered that CLN3 plays …

Sep 21, 2022 · The lysosomal transmembrane protein CLN3 is required for the lysosomal clearance of glycerophosphodiesters in mice and in human cells, suggesting that the loss of …

Sep 27, 2022 · 少年贝敦病是由编码一种叫做CLN3的蛋白的基因发生突变引起的，它是致命的，会导致儿童和年轻人的视力丧失、癫痫发作、进行性运动和智力退化。 CLN3蛋白存在于溶酶体 …

CLN3 was discovered using linkage analysis in search for the disease causing gene (mutation) in 48 children with progressive vision loss, seizures, decline of intellect and loss of motor ability …

CLN3 mutation is associated with neuronal ceroid lipofuscinosis. Genetic testing for CLN3 should be considered in autophagic vacuolar myopathy (AVM), with autophagic vacuoles and …

The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with …

CLN3 disease is an inherited disorder that begins in childhood and primarily affects the nervous system. People with this condition develop worsening vision impairment, intellectual disability, …