| 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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| 4 | FXN, PITRM1
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| Perturbation of cellular proteostasis networks identifies pathways that modulate precursor and intermediate but not mature levels of frataxin.
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| Nabhan JF, Gooch RL, Piatnitski Chekler EL, Pierce B, Bulawa CE.
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| Sci Rep 5:18251. doi: 10.1038/srep18251.
2015
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| 5 | PITRM1
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| In vitro oxidative inactivation of human presequence protease (hPreP).
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| Teixeira PF, Pinho CM, Branca RM, Lehtiö J, Levine RL, Glaser E.
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| Free Radic Biol Med 53(11):2188-95. doi: 10.1016/j.freeradbiomed.2012.09.039. Epub 2012 Oct 3.
2012
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| 6 | PITRM1
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| Decreased proteolytic activity of the mitochondrial amyloid-β degrading enzyme, PreP peptidasome, in Alzheimer's disease brain mitochondria.
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| Alikhani N, Guo L, Yan S, Du H, Pinho CM, Chen JX, Glaser E, Yan SS.
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| J Alzheimers Dis 27(1):75-87. doi: 10.3233/JAD-2011-101716.
2011
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| 7 | PITRM1
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| Genetic and biochemical studies of SNPs of the mitochondrial A beta-degrading protease, hPreP.
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| Pinho CM, Björk BF, Alikhani N, Bäckman HG, Eneqvist T, Fratiglioni L, Glaser E, Graff C.
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| Neurosci Lett 469(2):204-8. doi: 10.1016/j.neulet.2009.11.075. Epub 2009 Dec 3.
2010
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| 8 | PITRM1
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| The metalloendopeptidase gene Pitrm1 is regulated by hedgehog signaling in the developing mouse limb and is expressed in muscle progenitors.
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| Town L, McGlinn E, Fiorenza S, Metzis V, Butterfield NC, Richman JM, Wicking C.
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| Dev Dyn 238(12):3175-84. doi: 10.1002/dvdy.22126.
2009
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| 9 | AAK1, ANKRD26, ARHGEF4, CEP131, CEP164, DOCK9, DOLK, DOPEY1, EPN2, GARNL4, HIC2, KIAA1033, KIAA1109, LIMCH1, LMTK2, MYT1, NLGN1, OTUD4, PDZRN3, PITRM1, PLCH1, PLCL2, PPM1E, RAP140, RNF44, SAMD4A, SAPS1, SATB2, SCAF8, SLC8A2, SMG5, SON, SULF1, SV2C, SYNPO, TBC1D2B, TRAK1, TRIM33, TRIM35, TTC28, USP2, USP22, USP24, WDTC1, ZC3H4, ZFR2, ZNF507
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| Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
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| Kikuno R, Nagase T, Ishikawa K, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O.
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| DNA Res 6(3):197-205. 1999
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| 10 | PITRM1
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| Cloning, expression, and characterization of human metalloprotease 1: a novelmember of the pitrilysin family of metalloendoproteases.
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| Mzhavia N, Berman YL, Qian Y, Yan L, Devi LA.
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| DNA Cell Biol 18(5):369-80. 1999
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