The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Neurology,Molecular Medicine
Link
http://link.springer.com/content/pdf/10.1007/s12017-019-08529-7.pdf
Reference40 articles.
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2. Cannelli, N., Cassandrini, D., Bertini, E., Striano, P., Fusco, L., Gaggero, R.,.. . Bruno, C. (2006). Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean. Neurogenetics, 7(2), 111.
3. Gao, Z., Xie, H., Jiang, Q., Wu, N., Chen, X., & Chen, Q. (2018). Identification of two novel null variants in CLN8 by targeted next-generation sequencing: First report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants. BMC medical genetics, 19(1), 21.
4. Getty, A. L., & Pearce, D. A. (2011). Interactions of the proteins of neuronal ceroid lipofuscinosis: Clues to function. Cellular and molecular life sciences, 68(3), 453–474.
5. Haddad, S. E., Khoury, M., Daoud, M., Kantar, R., Harati, H., Mousallem, T.,.. . Boustany, R. M. (2012). CLN 5 and CLN 8 protein association with ceramide synthase: B iochemical and proteomic approaches. Electrophoresis, 33(24), 3798–3809.
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