Nature Communications (Jan 2022)
Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis
- Irene Lopez-Fabuel,
- Marina Garcia-Macia,
- Costantina Buondelmonte,
- Olga Burmistrova,
- Nicolo Bonora,
- Paula Alonso-Batan,
- Brenda Morant-Ferrando,
- Carlos Vicente-Gutierrez,
- Daniel Jimenez-Blasco,
- Ruben Quintana-Cabrera,
- Emilio Fernandez,
- Jordi Llop,
- Pedro Ramos-Cabrer,
- Aseel Sharaireh,
- Marta Guevara-Ferrer,
- Lorna Fitzpatrick,
- Christopher D. Thompton,
- Tristan R. McKay,
- Stephan Storch,
- Diego L. Medina,
- Sara E. Mole,
- Peter O. Fedichev,
- Angeles Almeida,
- Juan P. Bolaños
Affiliations
- Irene Lopez-Fabuel
- Institute of Functional Biology and Genomics (IBFG), Universidad de Salamanca, CSIC
- Marina Garcia-Macia
- Institute of Functional Biology and Genomics (IBFG), Universidad de Salamanca, CSIC
- Costantina Buondelmonte
- Institute of Functional Biology and Genomics (IBFG), Universidad de Salamanca, CSIC
- Olga Burmistrova
- Gero Discovery LLC
- Nicolo Bonora
- Institute of Functional Biology and Genomics (IBFG), Universidad de Salamanca, CSIC
- Paula Alonso-Batan
- Institute of Functional Biology and Genomics (IBFG), Universidad de Salamanca, CSIC
- Brenda Morant-Ferrando
- Institute of Functional Biology and Genomics (IBFG), Universidad de Salamanca, CSIC
- Carlos Vicente-Gutierrez
- Institute of Functional Biology and Genomics (IBFG), Universidad de Salamanca, CSIC
- Daniel Jimenez-Blasco
- Institute of Functional Biology and Genomics (IBFG), Universidad de Salamanca, CSIC
- Ruben Quintana-Cabrera
- Institute of Functional Biology and Genomics (IBFG), Universidad de Salamanca, CSIC
- Emilio Fernandez
- Institute of Functional Biology and Genomics (IBFG), Universidad de Salamanca, CSIC
- Jordi Llop
- CIC biomaGUNE, Basque Research and Technology Alliance (BRTA)
- Pedro Ramos-Cabrer
- CIC biomaGUNE, Basque Research and Technology Alliance (BRTA)
- Aseel Sharaireh
- Centre for Bioscience, Manchester Metropolitan University
- Marta Guevara-Ferrer
- Centre for Bioscience, Manchester Metropolitan University
- Lorna Fitzpatrick
- Centre for Bioscience, Manchester Metropolitan University
- Christopher D. Thompton
- Centre for Bioscience, Manchester Metropolitan University
- Tristan R. McKay
- Centre for Bioscience, Manchester Metropolitan University
- Stephan Storch
- University Children’s Research@Kinder-UKE, University Medical Center Hamburg-Eppendorf
- Diego L. Medina
- Telethon Institute of Genetics and Medicine (TIGEM), High Content Screening Facility
- Sara E. Mole
- MRC Laboratory for Molecular Biology and GOS Institute of Child Health, University College London
- Peter O. Fedichev
- Gero Discovery LLC
- Angeles Almeida
- Institute of Functional Biology and Genomics (IBFG), Universidad de Salamanca, CSIC
- Juan P. Bolaños
- Institute of Functional Biology and Genomics (IBFG), Universidad de Salamanca, CSIC
- DOI
- https://doi.org/10.1038/s41467-022-28191-1
- Journal volume & issue
-
Vol. 13,
no. 1
pp. 1 – 14
Abstract
CLN7 neuronal ceroid lipofuscinosis is an inherited lysosomal storage disease typically with childhood onset of neurodegenerative symptoms. Here the authors report that in a mouse model of CLN7 disease neuronal reactive oxygen species and the activity of glycolytic enzyme PFKFB3 are increased, while PFKFB3 inhibition ameliorates hallmarks of pathology.
