Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis

CLN7 neuronal ceroid lipofuscinosis is an inherited lysosomal storage neurodegenerative disease highly prevalent in children. CLN7/MFSD8 gene encodes a lysosomal membrane glycoprotein, but the biochemical processes affected by CLN7-loss of function are unexplored thus preventing development of poten...

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Detalles Bibliográficos
Autores principales: Lopez-Fabuel, Irene, Garcia-Macia, Marina, Buondelmonte, Costantina, Burmistrova, Olga, Bonora, Nicolo, Alonso-Batan, Paula, Morant-Ferrando, Brenda, Vicente-Gutierrez, Carlos, Jimenez-Blasco, Daniel, Quintana-Cabrera, Ruben, Fernandez, Emilio, Llop, Jordi, Ramos-Cabrer, Pedro, Sharaireh, Aseel, Guevara-Ferrer, Marta, Fitzpatrick, Lorna, Thompton, Christopher D., McKay, Tristan R., Storch, Stephan, Medina, Diego L., Mole, Sara E., Fedichev, Peter O., Almeida, Angeles, Bolaños, Juan P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8795187/
https://www.ncbi.nlm.nih.gov/pubmed/35087090
http://dx.doi.org/10.1038/s41467-022-28191-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8795187/
https://www.ncbi.nlm.nih.gov/pubmed/35087090
http://dx.doi.org/10.1038/s41467-022-28191-1

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