Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis
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...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Portfolio
2022-01-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-022-28191-1 |
| _version_ | 1819349572619599872 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Irene Lopez-Fabuel |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-24T19:02:39Z |
| format | Article |
| id | doaj.art-3a651b3190b84e729467d309cc661713 |
| institution | Directory Open Access Journal |
| issn | 2041-1723 |
| language | English |
| last_indexed | 2024-12-24T19:02:39Z |
| publishDate | 2022-01-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Nature Communications |
| spelling | doaj.art-3a651b3190b84e729467d309cc6617132022-12-21T16:43:09ZengNature PortfolioNature Communications2041-17232022-01-0113111410.1038/s41467-022-28191-1Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosisIrene Lopez-Fabuel0Marina Garcia-Macia1Costantina Buondelmonte2Olga Burmistrova3Nicolo Bonora4Paula Alonso-Batan5Brenda Morant-Ferrando6Carlos Vicente-Gutierrez7Daniel Jimenez-Blasco8Ruben Quintana-Cabrera9Emilio Fernandez10Jordi Llop11Pedro Ramos-Cabrer12Aseel Sharaireh13Marta Guevara-Ferrer14Lorna Fitzpatrick15Christopher D. Thompton16Tristan R. McKay17Stephan Storch18Diego L. Medina19Sara E. Mole20Peter O. Fedichev21Angeles Almeida22Juan P. Bolaños23Institute of Functional Biology and Genomics (IBFG), Universidad de Salamanca, CSICInstitute of Functional Biology and Genomics (IBFG), Universidad de Salamanca, CSICInstitute of Functional Biology and Genomics (IBFG), Universidad de Salamanca, CSICGero Discovery LLCInstitute of Functional Biology and Genomics (IBFG), Universidad de Salamanca, CSICInstitute of Functional Biology and Genomics (IBFG), Universidad de Salamanca, CSICInstitute of Functional Biology and Genomics (IBFG), Universidad de Salamanca, CSICInstitute of Functional Biology and Genomics (IBFG), Universidad de Salamanca, CSICInstitute of Functional Biology and Genomics (IBFG), Universidad de Salamanca, CSICInstitute of Functional Biology and Genomics (IBFG), Universidad de Salamanca, CSICInstitute of Functional Biology and Genomics (IBFG), Universidad de Salamanca, CSICCIC biomaGUNE, Basque Research and Technology Alliance (BRTA)CIC biomaGUNE, Basque Research and Technology Alliance (BRTA)Centre for Bioscience, Manchester Metropolitan UniversityCentre for Bioscience, Manchester Metropolitan UniversityCentre for Bioscience, Manchester Metropolitan UniversityCentre for Bioscience, Manchester Metropolitan UniversityCentre for Bioscience, Manchester Metropolitan UniversityUniversity Children’s Research@Kinder-UKE, University Medical Center Hamburg-EppendorfTelethon Institute of Genetics and Medicine (TIGEM), High Content Screening FacilityMRC Laboratory for Molecular Biology and GOS Institute of Child Health, University College LondonGero Discovery LLCInstitute of Functional Biology and Genomics (IBFG), Universidad de Salamanca, CSICInstitute of Functional Biology and Genomics (IBFG), Universidad de Salamanca, CSICCLN7 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.https://doi.org/10.1038/s41467-022-28191-1 |
| spellingShingle | 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 Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis Nature Communications |
| title | Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis |
| title_full | Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis |
| title_fullStr | Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis |
| title_full_unstemmed | Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis |
| title_short | Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis |
| title_sort | aberrant upregulation of the glycolytic enzyme pfkfb3 in cln7 neuronal ceroid lipofuscinosis |
| url | https://doi.org/10.1038/s41467-022-28191-1 |
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