| 1 | EXOSC8, PCH1C
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| Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature.
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| Ivanov I, Atkinson D, Litvinenko I, Angelova L, Andonova S, Mumdjiev H, Pacheva I, Panova M, Yordanova R, Belovejdov V, Petrova A, Bosheva M, Shmilev T, Savov A, Jordanova A.
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| Eur J Paediatr Neurol ur J Paediatr Neurol. 2018 Apr 3. pii: S1090-3798(17)31967-0. doi: 10.1016/j.ejpn.2018.03.011. [Epub ahead of print]
2018
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| 2 | EXOSC3, EXOSC8, PCH1B, PCH1C
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| The RNA exosome and RNA exosome-linked disease.
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| Morton DJ, Kuiper EG, Jones SK, Leung SW, Corbett AH, Fasken MB.
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| RNA 24(2):127-142. doi: 10.1261/rna.064626.117. Epub 2017 Nov 1.
2018
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| 3 | EXOSC3, EXOSC8, PCH1B, PCH1C, RBM7
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| Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.
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| Giunta M, Edvardson S, Xu Y, Schuelke M, Gomez-Duran A, Boczonadi V, Elpeleg O, Müller JS, Horvath R.
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| Hum Mol Genet 25(14):2985-2996. Epub 2016 May 18.
2016
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| 4 | ANO10, EXOSC8, PCH1C, SCAR10
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| Respiratory chain deficiency in nonmitochondrial disease.
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| Pyle A, Nightingale HJ, Griffin H, Abicht A, Kirschner J, Baric I, Cuk M, Douroudis K, Feder L, Kratz M, Czermin B, Kleinle S, Santibanez-Koref M, Karcagi V, Holinski-Feder E, Chinnery PF, Horvath R.
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| Neurol Genet 1(1):e6. doi: 10.1212/NXG.0000000000000006. eCollection 2015 Jun. 2015
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| 5 | EXOSC8, RBM7
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| EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
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| Boczonadi V, Müller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lützkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmüller H, Elliott DJ, Chinnery PF, Edvardson S, Horvath R.
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| Nat Commun 5:4287. doi: 10.1038/ncomms5287.
2014
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| 6 | EXOSC8, FOXO3, GATA1
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| The exosome complex establishes a barricade to erythroid maturation.
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| McIver SC, Kang YA, DeVilbiss AW, O'Driscoll CA, Ouellette JN, Pope NJ, Camprecios G, Chang CJ, Yang D, Bouhassira EE, Ghaffari S, Bresnick EH.
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| Blood 124(14):2285-97. doi: 10.1182/blood-2014-04-571083. Epub 2014 Aug 12.
2014
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| 7 | RPP14, EXOSC8
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| A protein subunit of human RNase P, Rpp14, and its interacting partner, OIP2, have 3'-->5' exoribonuclease activity.
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| Jiang T, Altman S.
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| Proc Natl Acad Sci U S A 99(8):5295-300. Epub 2002 Apr 02. 2002
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| 8 | EXOSC1, EXOSC2, EXOSC3, EXOSC4, EXOSC5, EXOSC6, EXOSC7, EXOSC8, EXOSC9, EXOSC10, PNPT1
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| Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring.
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| Raijmakers R, Egberts WV, van Venrooij WJ, Pruijn GJ.
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| J Mol Biol 323(4):653-63. 2002
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| 9 | OIP5, PRAME, EXOSC8
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| Using the yeast two-hybrid system to identify human epithelial cell proteins that bind gonococcal Opa proteins: intracellular gonococci bind pyruvate kinase via their Opa proteins and require host pyruvate for growth.
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| Williams JM, Chen GC, Zhu L, Rest RF.
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| Mol Microbiol 27(1):171-86. 1998
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