1 | C10orf2, IOSCA
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| Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy.
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| Park MH, Woo HM, Hong YB, Park JH, Yoon BR, Park JM, Yoo JH, Koo H, Chae JH, Chung KW, Choi BO, Koo SK.
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| Neurogenetics 15(3):171-82. doi: 10.1007/s10048-014-0405-1. Epub 2014 May 10.
2014
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2 | C10orf2
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| Replication factors transiently associate with mtDNA at the mitochondrial inner membrane to facilitate replication.
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| Rajala N, Gerhold JM, Martinsson P, Klymov A, Spelbrink JN.
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| Nucleic Acids Res 42(2):952-67. doi: 10.1093/nar/gkt988. Epub 2013 Oct 25.
2014
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3 | C10orf2
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| Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings.
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| Prasad C, Melançon SB, Rupar CA, Prasad AN, Nunez LD, Rosenblatt DS, Majewski J.
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| Mol Genet Metab 108(3):190-4. doi: 10.1016/j.ymgme.2012.12.007. Epub 2012 Dec 31.
2013
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4 | C10orf2, PEO3
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| Twinkle mutation in an Italian family with external progressive ophthalmoplegia and parkinsonism: a case report and an update on the state of art.
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| Kiferle L, Orsucci D, Mancuso M, Lo Gerfo A, Petrozzi L, Siciliano G, Ceravolo R, Bonuccelli U.
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| Neurosci Lett 556:1-4. doi: 10.1016/j.neulet.2013.09.034. Epub 2013 Sep 26. Review.
2013
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5 | C10orf2, PEO1, PEO3, POLG
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| Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients.
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| Brandon BR, Diederich NJ, Soni M, Witte K, Weinhold M, Krause M, Jackson S.
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| J Neurol 260(7):1931-3. doi: 10.1007/s00415-013-6975-2. Epub 2013 May 30. No abstract available.
2013
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6 | C10orf2
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| TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication.
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| Milenkovic D, Matic S, Kühl I, Ruzzenente B, Freyer C, Jemt E, Park CB, Falkenberg M, Larsson NG.
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| Hum Mol Genet 22(10):1983-93. doi: 10.1093/hmg/ddt051. Epub 2013 Feb 7.
2013
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7 | C10orf2
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| Human mitochondrial DNA helicase TWINKLE is both an unwinding and annealing helicase.
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| Sen D, Nandakumar D, Tang GQ, Patel SS.
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| J Biol Chem 287(18):14545-56. doi: 10.1074/jbc.M111.309468. Epub 2012 Mar 1.
2012
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8 | C10orf2, PEO2, PEO3, SLC25A4
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| SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia.
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| Park KP, Kim HS, Kim ES, Park YE, Lee CH, Kim DS.
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| J Clin Neurol 7(1):25-30. Epub 2011 Mar 31.
2011
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9 | C10orf2, PEO3, PEO4, POLG2
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| Biochemical analysis of human POLG2 variants associated with mitochondrial disease.
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| Young MJ, Longley MJ, Li FY, Kasiviswanathan R, Wong LJ, Copeland WC.
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| Hum Mol Genet 20(15):3052-66. Epub 2011 May 9.
2011
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10 | C10ORF2, IOSCA, PEO3
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| Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.
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| Longley MJ, Humble MM, Sharief FS, Copeland WC.
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| J Biol Chem 285(39):29690-702. Epub 2010 Jul 20.
2010
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11 | C10orf2, PEO3
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| Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling.
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| Goffart S, Cooper HM, Tyynismaa H, Wanrooij S, Suomalainen A, Spelbrink JN.
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| Hum Mol Genet 18(2):328-40. Epub 2008 Oct 29. 2009
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12 | C10orf2, PEO3
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| Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease.
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| Van Hove JL, Cunningham V, Rice C, Ringel SP, Zhang Q, Chou PC, Truong CK, Wong LJ.
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| Am J Med Genet A 149A(5):861-7. Review. 2009
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13 | C10orf2
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| The N-terminal domain of TWINKLE contributes to single-stranded DNA binding and DNA helicase activities.
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| Farge G, Holmlund T, Khvorostova J, Rofougaran R, Hofer A, Falkenberg M.
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| Nucleic Acids Res 36(2):393-403. Epub 2007 Nov 26. 2008
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14 | AMS1, C10orf2, IOSCA, POLG
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| Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.
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| Hakonen AH, Goffart S, Marjavaara S, Paetau A, Cooper H, Mattila K, Lampinen M, Sajantila A, Lönnqvist T, Spelbrink JN, Suomalainen A.
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| Hum Mol Genet 17(23):3822-35. Epub 2008 Sep 5. 2008
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15 | C10orf2, PEO3
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| Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.
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| Sarzi E, Goffart S, Serre V, Chrtien D, Slama A, Munnich A, Spelbrink JN, Rtig A.
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| Ann Neurol 62(6):579-87. 2007
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16 | C10orf2, PEO3
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| Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle.
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| Baloh RH, Salavaggione E, Milbrandt J, Pestronk A.
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| Arch Neurol 64(7):998-1000. 2007
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17 | C10orf2, POLG
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| Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
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| Naimi M, Bannwarth S, Procaccio V, Pouget J, Desnuelle C, Pellissier JF, Rotig A, Munnich A, Calvas P, Richelme C, Jonveaux P, Castelnovo G, Simon M, Clanet M, Wallace D, Paquis-Flucklinger V.
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| Eur J Hum Genet 14(8):917-22. Epub 2006 Apr 26. 2006
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18 | C10orf2, IOSCA
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| Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.
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| Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lonnqvist T, Peltonen L.
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| Hum Mol Genet 14(20):2981-90. Epub 2005 Aug 31. 2005
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19 | C10orf2
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| Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism.
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| Hudson G, Deschauer M, Busse K, Zierz S, Chinnery PF.
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| Neurology 64(2):371-3. 2005
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20 | C10orf2, MBS1, MBS2, MBS3, PEO2, PEO7, STBMS1
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| The genetics of strabismus.
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| Michaelides M, Moore AT.
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| J Med Genet 41(9):641-6. 2004
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21 | C10orf2, PEO1, PEO3, POLG, SLC25A4
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| Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA.
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| Wanrooij S, Luoma P, van Goethem G, van Broeckhoven C, Suomalainen A, Spelbrink JN.
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| Nucleic Acids Res 32(10):3053-64. Print 2004. 2004
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22 | C10orf2, PEO2, PEO3, PEO4, POLG, SLC25A4
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| Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
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| Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, Schaefer AM, Turnbull DM, Tiranti V, Zeviani M.
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| Neurology 60(8):1354-6. 2003
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23 | C10orf2, TNFRSF11A
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| Identification of a novel tandem duplication in exon 1 of the TNFRSF11A gene in two unrelated patients with familial expansile osteolysis.
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| Johnson-Pais TL, Singer FR, Bone HG, McMurray CT, Hansen MF, Leach RJ.
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| J Bone Miner Res 18(2):376-80. 2003
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24 | C10orf2
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| Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.
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| Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, Wanrooij S, Garrido N, Comi G, Morandi L, Santoro L, Toscano A, Fabrizi GM, Somer H, Croxen R, Beeson D, Poulton J, Suomalainen A, Jacobs HT, Zeviani M, Larsson C.
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| Nat Genet 28(3):223-31. 2001
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25 | BCS1L, C10orf2, COX10, COX10D, COX17, DSPP, FRDA, MNGIE, NARP, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV1D, NF1, OPA1, PGL1, PGL2, PGL3, POLG, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC25A4, SPG7, SURF1, VHL
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| Nuclear genetic defects of oxidative phosphorylation.
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| Shoubridge EA.
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| Hum Mol Genet 10(20):2277-84. Review. 2001
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26 | C10orf2, PEO2, PEO7
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| Further evidence for genetic heterogeneity of autosomal dominant disorders with accumulation of multiple deletions of mitochondrial DNA.
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| van Goethem G, Lofgren A, Martin JJ, van Broeckhoven C.
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| J Med Genet 37(7):547-8. No abstract available. 2000
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27 | C10orf2, PEO3
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| Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24.
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| Li FY, Tariq M, Croxen R, Morten K, Squier W, Newsom-Davis J, Beeson D, Larsson C.
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| Neurology 53(6):1265-71. 1999
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28 | C10orf2, PEO3
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| Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease.
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| Suomalainen A, Majander A, Wallin M, Setala K, Kontula K, Leinonen H, Salmi T, Paetau A, Haltia M, Valanne L, Lonnqvist J, Peltonen L, Somer H.
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| Neurology 48(5):1244-53. 1997
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29 | C10orf2
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| An autosomal locus predisposing to deletions of mitochondrial DNA.
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| Suomalainen A, Kaukonen J, Amati P, Timonen R, Haltia M, Weissenbach J,Zeviani M, Somer H, Peltonen L.
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| Nat Genet 9(2):146-51. 1995
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30 | C10orf2, PEO3
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| Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia.
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| Suomalainen A, et al.
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| J Clin Invest 90 : 61-66. 1992
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