A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis

Neuronal Ceroid Lipofuscinosis (NCL), also known as Batten disease, is an incurable childhood brain disease. The thirteen forms of NCL are caused by mutations in thirteen CLN genes. Mutations in one CLN gene, CLN5, cause variant late-infantile NCL, with an age of onset between 4 and 7 years. The CLN...

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Detalles Bibliográficos
Autores principales: Basak, I., Wicky, H. E., McDonald, K. O., Xu, J. B., Palmer, J. E., Best, H. L., Lefrancois, S., Lee, S. Y., Schoderboeck, L., Hughes, S. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8195759/
https://www.ncbi.nlm.nih.gov/pubmed/33792748
http://dx.doi.org/10.1007/s00018-021-03813-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8195759/
https://www.ncbi.nlm.nih.gov/pubmed/33792748
http://dx.doi.org/10.1007/s00018-021-03813-x

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