Cargando…
Increased Zinc and Manganese in Parallel with Neurodegeneration, Synaptic Protein Changes and Activation of Akt/GSK3 Signaling in Ovine CLN6 Neuronal Ceroid Lipofuscinosis
Mutations in the CLN6 gene cause a variant late infantile form of neuronal ceroid lipofuscinosis (NCL; Batten disease). CLN6 loss leads to disease clinically characterized by vision impairment, motor and cognitive dysfunction, and seizures. Accumulating evidence suggests that alterations in metal ho...
Autores principales: | Kanninen, Katja M., Grubman, Alexandra, Meyerowitz, Jodi, Duncan, Clare, Tan, Jiang-Li, Parker, Sarah J., Crouch, Peter J., Paterson, Brett M., Hickey, James L., Donnelly, Paul S., Volitakis, Irene, Tammen, Imke, Palmer, David N., White, Anthony R. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3597713/ https://www.ncbi.nlm.nih.gov/pubmed/23516525 http://dx.doi.org/10.1371/journal.pone.0058644 |
Ejemplares similares
-
Altered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosis
por: Kanninen, Katja M., et al.
Publicado: (2013) -
Progressive MRI brain volume changes in ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinosis
por: Murray, Samantha J, et al.
Publicado: (2023) -
CRISPR/Cas9 mediated generation of an ovine model for infantile neuronal ceroid lipofuscinosis (CLN1 disease)
por: Eaton, S. L., et al.
Publicado: (2019) -
Novel CLN1 mutation with atypical juvenile neuronal ceroid lipofuscinosis
por: Khan, Arif, et al.
Publicado: (2013) -
Aggregation chimeras provide evidence of in vivo intercellular correction in ovine CLN6 neuronal ceroid lipofuscinosis (Batten disease)
por: Barry, Lucy Anne, et al.
Publicado: (2022)