Maria Gabriela Otero, Jaemin Kim, Yogesh Kumar Kushwaha, Alex Rajewski, Fabian David Nonis, Chintda Santiskulvong, Serguei I Bannykh, Hiral Oza, Hafiz Muhammad Umer Farooqi, Madeline Babros, Christina Freeman, Lucie Dupuis, Saadat Mercimek-Andrews, Roberto Mendoza-Londono, Catherine Bresee, David R Adams, Cynthia J Tifft, Camilo Toro, Negar Khanlou, William A Gahl, Noriko Salamon, Tyler Mark Pierson
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 several CLN6 animal models and several CLN6 subjects had neuroimaging was consistent with leukodystrophy...
January 30, 2024: bioRxiv