Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia
Maria Gabriela Otero,
Jaemin Kim,
Yogesh Kumar Kushwaha
et al.
Abstract:Neuronal ceroid lipofuscinosis (NCL), type 6 (CLN6) is a neurodegenerative disorder associated with progressive neurodegeneration leading to dementia, seizures, and retinopathy. CLN6 encodes a resident-ER protein involved in trafficking lysosomal proteins to the Golgi. CLN6p deficiency results in lysosomal dysfunction and deposition of storage material comprised of Nile Red+ lipids/proteolipids that include subunit C of the mitochondrial ATP synthase (SUBC). White matter involvement has been recently noted in … Show more
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