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Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration.
Brunetti D, Torsvik J, Dallabona C, Teixeira P, Sztromwasser P, Fernandez-Vizarra E, Cerutti R, Reyes A, Preziuso C, D'Amati G, Baruffini E, Goffrini P, Viscomi C, Ferrero I, Boman H, Telstad W, Johansson S, Glaser E, Knappskog PM, Zeviani M, Bindoff LA. Brunetti D, et al. Among authors: d amati g. EMBO Mol Med. 2016 Mar 1;8(3):176-90. doi: 10.15252/emmm.201505894. EMBO Mol Med. 2016. PMID: 26697887 Free PMC article.
SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype.
Quadalti C, Brunetti D, Lagutina I, Duchi R, Perota A, Lazzari G, Cerutti R, Di Meo I, Johnson M, Bottani E, Crociara P, Corona C, Grifoni S, Tiranti V, Fernandez-Vizarra E, Robinson AJ, Viscomi C, Casalone C, Zeviani M, Galli C. Quadalti C, et al. Among authors: brunetti d. Biochim Biophys Acta Mol Basis Dis. 2018 Jun;1864(6 Pt A):2131-2142. doi: 10.1016/j.bbadis.2018.03.021. Epub 2018 Mar 28. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 29601977 Free PMC article.
Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.
Langer Y, Aran A, Gulsuner S, Abu Libdeh B, Renbaum P, Brunetti D, Teixeira PF, Walsh T, Zeligson S, Ruotolo R, Beeri R, Dweikat I, Shahrour M, Weinberg-Shukron A, Zahdeh F, Baruffini E, Glaser E, King MC, Levy-Lahad E, Zeviani M, Segel R. Langer Y, et al. Among authors: brunetti d. J Med Genet. 2018 Sep;55(9):599-606. doi: 10.1136/jmedgenet-2018-105330. Epub 2018 May 15. J Med Genet. 2018. PMID: 29764912 Free article.
Loss of function of the mitochondrial peptidase PITRM1 induces proteotoxic stress and Alzheimer's disease-like pathology in human cerebral organoids.
Pérez MJ, Ivanyuk D, Panagiotakopoulou V, Di Napoli G, Kalb S, Brunetti D, Al-Shaana R, Kaeser SA, Fraschka SA, Jucker M, Zeviani M, Viscomi C, Deleidi M. Pérez MJ, et al. Among authors: brunetti d. Mol Psychiatry. 2021 Oct;26(10):5733-5750. doi: 10.1038/s41380-020-0807-4. Epub 2020 Jul 7. Mol Psychiatry. 2021. PMID: 32632204 Free PMC article.
Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model.
Brunetti D, Dusi S, Morbin M, Uggetti A, Moda F, D'Amato I, Giordano C, d'Amati G, Cozzi A, Levi S, Hayflick S, Tiranti V. Brunetti D, et al. Among authors: d amato i, d amati g. Hum Mol Genet. 2012 Dec 15;21(24):5294-305. doi: 10.1093/hmg/dds380. Epub 2012 Sep 13. Hum Mol Genet. 2012. PMID: 22983956 Free PMC article.
Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.
Brunetti D, Dusi S, Giordano C, Lamperti C, Morbin M, Fugnanesi V, Marchet S, Fagiolari G, Sibon O, Moggio M, d'Amati G, Tiranti V. Brunetti D, et al. Among authors: d amati g. Brain. 2014 Jan;137(Pt 1):57-68. doi: 10.1093/brain/awt325. Epub 2013 Dec 6. Brain. 2014. PMID: 24316510 Free PMC article.
63 results