1 | COXPD36, MRPS2
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| Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.
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| Gardeitchik T, Mohamed M, Ruzzenente B, Karall D, Guerrero-Castillo S, Dalloyaux D, van den Brand M, van Kraaij S, van Asbeck E, Assouline Z, Rio M, de Lonlay P, Scholl-Buergi S, Wolthuis DFGJ, Hoischen A, Rodenburg RJ, Sperl W, Urban Z, Brandt U, Mayr JA, Wong S, de Brouwer APM, Nijtmans L, Munnich A, Rötig A, Wevers RA, Metodiev MD, Morava E.
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| Am J Hum Genet 102(4):685-695. doi: 10.1016/j.ajhg.2018.02.012. Epub 2018 Mar 22.
2018
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2 | MRPL12, MRPL23, MRPS12, MRPS2, MRPS28, MRPS34
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| Benzyl isothiocyanate alters the gene expression with cell cycle regulation and cell death in human brain glioblastoma GBM 8401 cells.
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| Tang NY, Chueh FS, Yu CC, Liao CL, Lin JJ, Hsia TC, Wu KC, Liu HC, Lu KW, Chung JG.
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| Oncol Rep 35(4):2089-96. doi: 10.3892/or.2016.4577. Epub 2016 Jan 19.
2016
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3 | MRPS11, MRPS16, MRPS2, MRPS22
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| The effect of mutated mitochondrial ribosomal proteins S16 and S22 on the assembly of the small and large ribosomal subunits in human mitochondria.
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| Emdadul Haque M, Grasso D, Miller C, Spremulli LL, Saada A.
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| Mitochondrion 8(3):254-61. doi: 10.1016/j.mito.2008.04.004. Epub 2008 Apr 30.
2008
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4 | MRPL51, MRP63, MRPS12, MRPS2
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| Proteomic analysis of the mammalian mitochondrial ribosome. Identification of protein components in the 28 S small subunit.
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| Suzuki T, Terasaki M, Takemoto-Hori C, Hanada T, Ueda T, Wada A, Watanabe K.
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| J Biol Chem 276(35):33181-95. 2001
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5 | MRPS10, MRPS11, MRPS11P1, MRPS14, MRPS15, MRPS16, MRPS16P2, MRPS18A, MRPS18B, MRPS18C, MRPS2, MRPS21, MRPS22, MRPS23, MRPS24, MRPS25, MRPS26, MRPS27, MRPS30, MRPS33, MRPS34, MRPS35, MRPS36, MRPS5, MRPS6, MRPS7, MRPS9, MRPS31
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| The small subunit of the mammalian mitochondrial ribosome. Identification of the full complement of ribosomal proteins present.
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| Cavdar Koc E, Burkhart W, Blackburn K, Moseley A, Spremulli LL.
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| J Biol Chem 276(22):19363-74. Epub 2001 Mar 02. 2001
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6 | MRP63, MRPL51, MRPL10, MRPL11, MRPL12, MRPL13, MRPL14, MRPL16, MRPL17, MRPL19, MRPL2, MRPL20, MRPL24, MRPL27, MRPL3, MRPL30, MRPL32, MRPL33, MRPL34, MRPL36, MRPL38, MRPL39, MRPL4, MRPL40, MRPL41, MRPL43, MRPL9, MRPS11, MRPS11P1, MRPS14, MRPS15, MRPS16, MRPS18A, MRPS2, MRPS21, MRPS22, MRPS23, MRPS24, MRPS25, MRPS26, MRPS5, MRPS6, MRPS7, IMP3, IMP4, MRPL1, MRPL15, MRPL22, MRPL23, MRPL37, MRPL42, MRPS12, MRPS17, MRPS28, DAP3, MRPS30, MRPL51
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| The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders.
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| Kenmochi N, Suzuki T, Uechi T, Magoori M, Kuniba M, Higa S, Watanabe K,Tanaka T.
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| Genomics 77(1-2):65-70. 2001
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