Neuronal progenitor cells-based metabolomics study reveals dysregulated lipid metabolism and identifies putative biomarkers for CLN6 disease

Neuronal ceroid lipofuscinosis 6 (CLN6) is a rare and fatal autosomal recessive disease primarily affecting the nervous system in children. It is caused by a pathogenic mutation in the CLN6 gene for which no therapy is available. Employing an untargeted metabolomics approach, we analyzed the metabol...

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Detalles Bibliográficos
Autores principales: Rus, Corina-Marcela, Polla, Daniel L., Di Bucchianico, Sebastiano, Fischer, Steffen, Hartkamp, Jörg, Hartmann, Guido, Alpagu, Yunus, Cozma, Claudia, Zimmermann, Ralf, Bauer, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10613621/
https://www.ncbi.nlm.nih.gov/pubmed/37899458
http://dx.doi.org/10.1038/s41598-023-45789-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10613621/
https://www.ncbi.nlm.nih.gov/pubmed/37899458
http://dx.doi.org/10.1038/s41598-023-45789-7

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