Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis |
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| Authors: | Elisa?Fossale Pavlina?Wolf Janice?A?Espinola Tanya?Lubicz-Nawrocka Allison?M?Teed Hanlin?Gao Dorotea?Rigamonti Elena?Cattaneo Marcy?E?MacDonald Email author" target="_blank">Susan?L?CotmanEmail author |
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| Institution: | (1) Molecular Neurogenetics Unit of Department of Neurology and Center for Human Genetic Research, Massachusetts General Hospital, Charlestown, MA, USA;(2) Department of Pharmacological Sciences and Center of Excellence on Neurodegenerative Diseases, University of Milano, Milan, Italy |
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| Abstract: | Background JNCL is a recessively inherited, childhood-onset neurodegenerative disease most-commonly caused by a ~1 kb CLN3 mutation. The resulting loss of battenin activity leads to deposition of mitochondrial ATP synthase, subunit c and a specific
loss of CNS neurons. We previously generated Cln3
Δex7/8 knock-in mice, which replicate the common JNCL mutation, express mutant battenin and display JNCL-like pathology. |
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