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Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis

Authors
Publisher
BioMed Central
Publication Date
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PMC
Keywords
  • Research Article
Disciplines
  • Biology
  • Medicine

Abstract

1471-2202-5-57.fm ral ss BioMed CentBMC Neuroscience Open AcceResearch article Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis Elisa Fossale1, Pavlina Wolf1, Janice A Espinola1, Tanya Lubicz-Nawrocka1, Allison M Teed1, Hanlin Gao1, Dorotea Rigamonti2, Elena Cattaneo2, Marcy E MacDonald1 and Susan L Cotman*1 Address: 1Molecular Neurogenetics Unit of Department of Neurology and Center for Human Genetic Research, Massachusetts General Hospital, Charlestown, MA, USA and 2Department of Pharmacological Sciences and Center of Excellence on Neurodegenerative Diseases, University of Milano, Milan, Italy Email: Elisa Fossale - [email protected]; Pavlina Wolf - [email protected]; Janice A Espinola - [email protected]; Tanya Lubicz-Nawrocka - [email protected]; Allison M Teed - [email protected]; Hanlin Gao - [email protected]; Dorotea Rigamonti - [email protected]; Elena Cattaneo - [email protected]; Marcy E MacDonald - [email protected]; Susan L Cotman* - [email protected] * Corresponding author 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∆ex7/8 knock-in mice, which replicate the common JNCL mutation, express mutant battenin and display JNCL-like pathology. Results: To elucidate the consequences of the common JNCL mutation in neuronal cells, we used P4 knock-in mouse cerebella to establish conditionally immortalized CbCln3 wild-type, heterozygous, and homozygous neuronal precursor cell lines, which can be differentiated into MAP-2 and NeuN-positive, neuron-like cells. Homozygous CbCln3∆ex7/8 precursor cells express low levels of mutant battenin

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