| 1 | COXPD31, HTRA2, MGCA8, MIPEP, NPHPL1, PITRM1, SCAMRP, XPNPEP3
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| Disease-Associated Genetic Variation in Human Mitochondrial Protein Import.
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| Nicolas E, Tricarico R, Savage M, Golemis EA, Hall MJ.
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| Am J Hum Genet 104(5):784-801. doi: 10.1016/j.ajhg.2019.03.019. Review.
2019
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| 2 | PITRM1, SCAMRP
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| Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.
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| 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.
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| J Med Genet 55(9):599-606. doi: 10.1136/jmedgenet-2018-105330. Epub 2018 May 15.
2018
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| 3 | PITRM1, SCAMRP
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| Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration.
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| 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.
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| EMBO Mol Med 8(3):176-90. doi: 10.15252/emmm.201505894.
2016
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