| 1 | DFNB70, PNPT1
|
| A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss.
|
| von Ameln S, Wang G, Boulouiz R, Rutherford MA, Smith GM, Li Y, Pogoda HM, Nürnberg G, Stiller B, Volk AE, Borck G, Hong JS, Goodyear RJ, Abidi O, Nürnberg P, Hofmann K, Richardson GP, Hammerschmidt M, Moser T, Wollnik B, Koehler CM, Teitell MA, Barakat A, Kubisch C.
|
| Am J Hum Genet 91(5):919-27. doi: 10.1016/j.ajhg.2012.09.002. Epub 2012 Oct 18.
2012
|
| 2 | COXPD13, PNPT1, RMRP
|
| Mutation in PNPT1, which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency.
|
| Vedrenne V, Gowher A, De Lonlay P, Nitschke P, Serre V, Boddaert N, Altuzarra C, Mager-Heckel AM, Chretien F, Entelis N, Munnich A, Tarassov I, Rötig A.
|
| Am J Hum Genet 91(5):912-8. doi: 10.1016/j.ajhg.2012.09.001. Epub 2012 Oct 18.
2012
|
| 3 | PNPT1
|
| Human polynucleotide phosphorylase (hPNPase(old-35)): an evolutionary conserved gene with an expanding repertoire of RNA degradation functions.
|
| Das SK, Bhutia SK, Sokhi UK, Dash R, Azab B, Sarkar D, Fisher PB.
|
| Oncogene ncogene. 2010 Dec 13. [Epub ahead of print]
2010
|
| 4 | PNPT1
|
| PNPASE regulates RNA import into mitochondria.
|
| Wang G, Chen HW, Oktay Y, Zhang J, Allen EL, Smith GM, Fan KC, Hong JS, French SW, McCaffery JM, Lightowlers RN, Morse HC 3rd, Koehler CM, Teitell MA.
|
| Cell 142(3):456-67.
2010
|
| 5 | PNPT1
|
| Stable PNPase RNAi silencing: its effect on the processing and adenylation of human mitochondrial RNA.
|
| Slomovic S, Schuster G.
|
| RNA 14(2):310-23. Epub 2007 Dec 14.PMID: 18083837 2008
|
| 6 | PNPT1
|
| Activation of double-stranded RNA dependent protein kinase, a new pathway by which human polynucleotide phosphorylase (hPNPase(old-35)) induces apoptosis.
|
| Sarkar D, Park ES, Barber GN, Fisher PB.
|
| Cancer Res 67(17):7948-53.PMID: 17804700 2007
|
| 7 | PNPT1
|
| Protein tyrosine phosphatase 1B negatively regulates macrophage development through CSF-1 signaling.
|
| Heinonen KM, Dube N, Bourdeau A, Lapp WS, Tremblay ML.
|
| Proc Natl Acad Sci U S A [Epub ahead of print] 2006
|
| 8 | PNPT1
|
| Defining the domains of human polynucleotide phosphorylase (hPNPaseOLD-35) mediating cellular senescence.
|
| Sarkar D, Park ES, Emdad L, Randolph A, Valerie K, Fisher PB.
|
| Mol Cell Biol 25(16):7333-43.PMID: 16055741 2005
|
| 9 | PNPT1
|
| Expression regulation and genomic organization of human polynucleotide phosphorylase, hPNPase(old-35), a Type I interferon inducible early response gene.
|
| Leszczyniecka M, Su ZZ, Kang DC, Sarkar D, Fisher PB.
|
| Gene 316:143-56. 2003
|
| 10 | PNPT1
|
| Identification and cloning of human polynucleotide phosphorylase, hPNPase old-35, in the context of terminal differentiation and cellular senescence.
|
| Leszczyniecka M, Kang DC, Sarkar D, Su ZZ, Holmes M, Valerie K, Fisher PB.
|
| Proc Natl Acad Sci U S A 99(26):16636-41. 2002
|
| 11 | EXOSC1, EXOSC2, EXOSC3, EXOSC4, EXOSC5, EXOSC6, EXOSC7, EXOSC8, EXOSC9, EXOSC10, PNPT1
|
| Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring.
|
| Raijmakers R, Egberts WV, van Venrooij WJ, Pruijn GJ.
|
| J Mol Biol 323(4):653-63. 2002
|