CLN6’s luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses
Author:
Affiliation:
1. Department of Molecular Cell Biology and Medicine, Graduate School of Biomedical Sciences, Tokushima University
Publisher
Biomedical Research Press
Subject
General Biochemistry, Genetics and Molecular Biology,General Medicine
Link
https://www.jstage.jst.go.jp/article/biomedres/42/4/42_129/_pdf
Reference30 articles.
1. Alroy J, Braulke T, Cismondi IA, Cooper JD, Creegan D, et al. (2011) CLN6. in Neuronal Ceroid Lipofuscinoses (Batten Disease) (ed. by Mole SE et al.) pp159–175, Oxford University Press.
2. Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, et al. (2011) Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in cln6. Am J Hum Genet 88, 566–573.
3. Bajaj L, Sharma J, di Ronza A, Zhang P, Eblimit A, et al. (2020) A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer. J Clin Invest 140, 4118–4132.
4. Bronson RT, Donahue LR, Johnson KR, Tanner A, Lane PW, et al. (1998) Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9. Am J Med Genet 77, 289–297.
5. Butz ES, Chandrachud U, Mole SE and Cotman SL (2020) Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses. Biochim Biophys Acta – Mol Basis Dis 1866, 165571.
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3. Rare adult neuronal ceroid lipofuscinosis associated with CLN6 gene mutations: A case report;World Journal of Clinical Cases;2023-05-26
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