| Name | Maffezzini Camilla, |
|---|---|
| Institution |  Karolinska Institute Dept. Laboratory Medicine Division of metabolic diseases |
| Address | Retzius Väg 8, 171 77 |
| City | Stockholm |
| State/Province | |
| Country | Sweden |
| [email protected] | |
| Weblink | |
| O2k-Network Lab |
Labels:
Publications
| Published | Reference | |
|---|---|---|
| Correia 2021 Hum Mutat | 2021 | Correia SP, Moedas MF, Naess K, Bruhn H, Maffezzini C, Calvo-Garrido J, Lesko N, Wibom R, Schober FA, Jemt A, Stranneheim H, Freyer C, Wedell A, Wredenberg A (2021) Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7. Hum Mutat 42:378-84. |
| Maffezzini 2020 Cell Mol Life Sci | 2020 | Maffezzini C, Calvo-Garrido J, Wredenberg A, Freyer C (2020) Metabolic regulation of neurodifferentiation in the adult brain. Cell Mol Life Sci 77:2483-96. https://doi.org/10.1007/s00018-019-03430-9 |
| Pajak 2019 PLoS Genet | 2019 | Pajak A, Laine I, Clemente P, El-Fissi N, Schober FA, Maffezzini C, Calvo-Garrido J, Wibom R, Filograna R, Dhir A, Wedell A, Freyer C, Wredenberg A (2019) Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo. PLoS Genet 15:e1008240. |
| Gopalakrishna 2019 Nucleic Acids Res | 2019 | Gopalakrishna S, Pearce SF, Dinan AM, Schober FA, Cipullo M, Spåhr H, Khawaja A, Maffezzini C, Freyer C, Wredenberg A, Atanassov I, Firth AE, Rorbach J (2019) C6orf203 is an RNA-binding protein involved in mitochondrial protein synthesis. Nucleic Acids Res 47:9386-99. |
| Bratic 2016 PLoS Genet | 2016 | Bratic A, Clemente P, Calvo-Garrido J, Maffezzini C, Felser A, Wibom R, Wedell A, Freyer C, Wredenberg A (2016) Mitochondrial polyadenylation is a one-step process required for mRNA integrity and tRNA maturation. PLoS Genet 12:e1006028. |
| Kishita 2015 Am J Hum Genet | 2015 | Kishita Y, Pajak A, Bolar NA, Marobbio CM, Maffezzini C, Miniero DV, Monné M, Kohda M, Stranneheim H, Murayama K, Naess K, Lesko N, Bruhn H, Mourier A, Wibom R, Nennesmo I, Jespers A, Govaert P, Ohtake A, Van Laer L, Loeys BL, Freyer C, Palmieri F, Wredenberg A, Okazaki Y, Wedell A (2015) Intra-mitochondrial methylation deficiency due to mutations in SLC25A26. Am J Hum Genet 97:761-8. |
