Article
Loss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retinal pigment epithelium.
Biochimica et biophysica acta. Molecular basis of disease - 1 Oct 2020
Zhong Yu, Mohan Kabhilan, Liu Jinpeng, Al-Attar Ahmad, Lin Penghui, Flight Robert M, Sun Qiushi, Warmoes Marc O, Deshpande Rahul R, Liu Huijuan, Jung Kyung Sik, Mitov Mihail I, Lin Nianwei, Butterfield D Allan, Lu Shuyan, Liu Jinze, Moseley Hunter N B, Fan Teresa W M, Kleinman Mark E, Wang Qing Jun
Abstract excerpt
Juvenile neuronal ceroid lipofuscinosis (JNCL, aka. juvenile Batten disease or CLN3 disease) is a lysosomal storage disease characterized by progressive blindness, seizures, cognitive and motor failures, and premature death. JNCL is caused by mutations in the Ceroid Lipofuscinosis, Neuronal 3 (CLN3) gene, whose function is unclear. Although traditionally considered a neurodegenerative disease, CLN3 disease...
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