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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: glaser e. 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.
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: glaser e. EMBO Mol Med. 2016 Mar 1;8(3):176-90. doi: 10.15252/emmm.201505894. EMBO Mol Med. 2016. PMID: 26697887 Free PMC article.
A novel mitochondrial and chloroplast peptidasome, PreP.
Kmiec B, Glaser E. Kmiec B, et al. Among authors: glaser e. Physiol Plant. 2012 May;145(1):180-6. doi: 10.1111/j.1399-3054.2011.01531.x. Epub 2011 Nov 21. Physiol Plant. 2012. PMID: 21995547 Review.
329 results