Gfm1-flox 基因敲除小鼠

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2. Zurita-Díaz, Francisco, Galera-Monge, Teresa, Moreno-Izquierdo, Ana, Garesse, Rafael, Gallardo, M Esther. 2015. Generation of a human iPSC line from a patient with a mitochondrial encephalopathy due to mutations in the GFM1 gene. In Stem cell research, 16, 124-7. doi:10.1016/j.scr.2015.12.019. https://pubmed.ncbi.nlm.nih.gov/27345796/

3. Suárez-Rivero, Juan M, Pastor-Maldonado, Carmen J, Povea-Cabello, Suleva, Piñero-Perez, Rocío, Sánchez-Alcázar, José A. 2022. UPRmt activation improves pathological alterations in cellular models of mitochondrial diseases. In Orphanet journal of rare diseases, 17, 204. doi:10.1186/s13023-022-02331-8. https://pubmed.ncbi.nlm.nih.gov/35581596/

4. Molina-Berenguer, Miguel, Vila-Julià, Ferran, Pérez-Ramos, Sandra, Torres-Torronteras, Javier, Martí, Ramon. . Dysfunctional mitochondrial translation and combined oxidative phosphorylation deficiency in a mouse model of hepatoencephalopathy due to Gfm1 mutations. In FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 36, e22091. doi:10.1096/fj.202100819RRR. https://pubmed.ncbi.nlm.nih.gov/34919756/

5. Ravn, Kirstine, Schönewolf-Greulich, Bitten, Hansen, Rikke M, Wibrand, Flemming, Ostergaard, Elsebet. 2015. Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations. In Molecular genetics and metabolism reports, 3, 5-10. doi:10.1016/j.ymgmr.2015.01.004. https://pubmed.ncbi.nlm.nih.gov/26937387/

6. Barcia, Giulia, Rio, Marlène, Assouline, Zahra, Metodiev, Metodi D, Ruzzenente, Benedetta. 2019. Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations. In Human mutation, 41, 397-402. doi:10.1002/humu.23937. https://pubmed.ncbi.nlm.nih.gov/31680380/

7. Khan, Atta Ullah, Khan, Ibrar, Khan, Muhammad Ismail, Seo, Go Hun, Jelani, Musharraf. 2022. Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family. In American journal of medical genetics. Part A, 188, 2693-2700. doi:10.1002/ajmg.a.62856. https://pubmed.ncbi.nlm.nih.gov/35703069/

8. Cilleros-Holgado, Paula, Gómez-Fernández, David, Piñero-Pérez, Rocío, Rodríguez-Sacristan, Andrés, Sánchez-Alcázar, José Antonio. 2024. Polydatin and Nicotinamide Rescue the Cellular Phenotype of Mitochondrial Diseases by Mitochondrial Unfolded Protein Response (mtUPR) Activation. In Biomolecules, 14, . doi:10.3390/biom14050598. https://pubmed.ncbi.nlm.nih.gov/38786005/