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Comparative proteomic profiling reveals mechanisms for early spinal cord vulnerability in CLN1 disease
CLN1 disease is a fatal inherited neurodegenerative lysosomal storage disease of early childhood, caused by mutations in the CLN1 gene, which encodes the enzyme Palmitoyl protein thioesterase-1 (PPT-1). We recently found significant spinal pathology in Ppt1-deficient (Ppt1(−/−)) mice and human CLN1...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7495486/ https://www.ncbi.nlm.nih.gov/pubmed/32938982 http://dx.doi.org/10.1038/s41598-020-72075-7 |