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