PEO1: Difference between revisions

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Latest revision as of 17:56, 7 September 2017

Twinkle protein is a mitochondrial protein that in humans is encoded by the C10orf2 gene.^[1]^[2]^[3]^[4]

Twinkle is a mitochondrial protein with structural similarity to the phage T7 primase/helicase (GP4) and other hexameric ring helicases. The twinkle protein colocalizes with mtDNA in mitochondrial nucleoids, and its name derives from the unusual localization pattern reminiscent of twinkling stars (Spelbrink et al., 2001).[supplied by OMIM]^[4]

References

↑ 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 (Jun 2001). "Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria". Nat Genet. 28 (3): 223–31. doi:10.1038/90058. PMID 11431692.
↑ Leipe DD, Aravind L, Grishin NV, Koonin EV (Mar 2000). "The bacterial replicative helicase DnaB evolved from a RecA duplication". Genome Res. 10 (1): 5–16. doi:10.1101/gr.10.1.5. PMID 10645945.
↑ Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lonnqvist T, Peltonen L (Oct 2005). "Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky". Hum Mol Genet. 14 (20): 2981–90. doi:10.1093/hmg/ddi328. PMID 16135556.
↑ ^4.0 ^4.1 "Entrez Gene: PEO1 progressive external ophthalmoplegia 1".

Suomalainen A, Kaukonen J, Amati P, et al. (1995). "An autosomal locus predisposing to deletions of mitochondrial DNA". Nat. Genet. 9 (2): 146–51. doi:10.1038/ng0295-146. PMID 7719341.
Hirano M, DiMauro S (2003). "ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia". Neurology. 57 (12): 2163–5. doi:10.1212/wnl.57.12.2163. PMID 11756592.
Lewis S, Hutchison W, Thyagarajan D, Dahl HH (2002). "Clinical and molecular features of adPEO due to mutations in the Twinkle gene". J. Neurol. Sci. 201 (1–2): 39–44. doi:10.1016/S0022-510X(02)00190-9. PMID 12163192.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Arenas J, Briem E, Dahl H, et al. (2003). "The V368i mutation in Twinkle does not segregate with AdPEO". Ann. Neurol. 53 (2): 278. doi:10.1002/ana.10430. PMID 12557300.
Garrido N, Griparic L, Jokitalo E, et al. (2003). "Composition and Dynamics of Human Mitochondrial Nucleoids". Mol. Biol. Cell. 14 (4): 1583–96. doi:10.1091/mbc.E02-07-0399. PMC 153124. PMID 12686611.
Agostino A, Valletta L, Chinnery PF, et al. (2004). "Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)". Neurology. 60 (8): 1354–6. doi:10.1212/01.wnl.0000056088.09408.3c. PMID 12707443.
Van Goethem G, Löfgren A, Dermaut B, et al. (2004). "Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle". Hum. Mutat. 22 (2): 175–6. doi:10.1002/humu.10246. PMID 12872260.
Deschauer M, Kiefer R, Blakely EL, et al. (2003). "A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia". Neuromuscul. Disord. 13 (7–8): 568–72. doi:10.1016/S0960-8966(03)00071-3. PMID 12921794.
Korhonen JA, Gaspari M, Falkenberg M (2004). "TWINKLE Has 5' -> 3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein". J. Biol. Chem. 278 (49): 48627–32. doi:10.1074/jbc.M306981200. PMID 12975372.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Deloukas P, Earthrowl ME, Grafham DV, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375–81. doi:10.1038/nature02462. PMID 15164054.
Korhonen JA, Pham XH, Pellegrini M, Falkenberg M (2004). "Reconstitution of a minimal mtDNA replisome in vitro". EMBO J. 23 (12): 2423–9. doi:10.1038/sj.emboj.7600257. PMC 423294. PMID 15167897.
Wanrooij S, Luoma P, van Goethem G, et al. (2004). "Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA". Nucleic Acids Res. 32 (10): 3053–64. doi:10.1093/nar/gkh634. PMC 434440. PMID 15181170.
Tyynismaa H, Sembongi H, Bokori-Brown M, et al. (2005). "Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number". Hum. Mol. Genet. 13 (24): 3219–27. doi:10.1093/hmg/ddh342. PMID 15509589.
Hudson G, Deschauer M, Busse K, et al. (2005). "Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism". Neurology. 64 (2): 371–3. doi:10.1212/01.WNL.0000149767.51152.83. PMID 15668446.
Ziebarth TD, Farr CL, Kaguni LS (2007). "Modular Architecture of the Hexameric Human Mitochondrial DNA Helicase". J. Mol. Biol. 367 (5): 1382–91. doi:10.1016/j.jmb.2007.01.079. PMC 2711006. PMID 17324440.
Baloh RH, Salavaggione E, Milbrandt J, Pestronk A (2007). "Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle". Arch. Neurol. 64 (7): 998–1000. doi:10.1001/archneur.64.7.998. PMID 17620490.

This article on a gene on human chromosome 10 is a stub. You can help Wikipedia by expanding it.

[pmid11431692-1] 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 (Jun 2001). "Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria". Nat Genet. 28 (3): 223–31. doi:10.1038/90058. PMID 11431692.

[pmid10645945-2] Leipe DD, Aravind L, Grishin NV, Koonin EV (Mar 2000). "The bacterial replicative helicase DnaB evolved from a RecA duplication". Genome Res. 10 (1): 5–16. doi:10.1101/gr.10.1.5. PMID 10645945.

[pmid16135556-3] Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lonnqvist T, Peltonen L (Oct 2005). "Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky". Hum Mol Genet. 14 (20): 2981–90. doi:10.1093/hmg/ddi328. PMID 16135556.

[entrez-4] 4.0 ^4.1 "Entrez Gene: PEO1 progressive external ophthalmoplegia 1".

[1]

[2]

[3]

[4]

@@ Line 1: / Line 1: @@
-<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
+{{Infobox_gene}}
-{{PBB_Controls
+'''Twinkle protein''' is a mitochondrial [[protein]] that in humans is encoded by the ''C10orf2'' [[gene]].<ref name="pmid11431692">{{cite journal |vauthors=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 | title = Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria | journal = Nat Genet | volume = 28 | issue = 3 | pages = 223–31 |date=Jun 2001 | pmid = 11431692 | pmc =  | doi = 10.1038/90058 }}</ref><ref name="pmid10645945">{{cite journal |vauthors=Leipe DD, Aravind L, Grishin NV, Koonin EV | title = The bacterial replicative helicase DnaB evolved from a RecA duplication | journal = Genome Res | volume = 10 | issue = 1 | pages = 5–16 |date=Mar 2000 | pmid = 10645945 | pmc =  | doi =  10.1101/gr.10.1.5}}</ref><ref name="pmid16135556">{{cite journal |vauthors=Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lonnqvist T, Peltonen L | title = Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky | journal = Hum Mol Genet | volume = 14 | issue = 20 | pages = 2981–90 |date=Oct 2005 | pmid = 16135556 | pmc =  | doi = 10.1093/hmg/ddi328 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PEO1 progressive external ophthalmoplegia 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=56652| accessdate = }}</ref>
-| update_page = yes
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-| update_citations = yes
-}}
-<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
-{{GNF_Protein_box
- | image =
- | image_source =
- | PDB =
- | Name = Progressive external ophthalmoplegia 1
- | HGNCid = 8834
- | Symbol = PEO1
- | AltSymbols =; PEO; SANDO; C10orf2; FLJ21832; PEOA3; TWINL
- | OMIM = 606075
- | ECnumber =
-  | Homologene = 11052
- | MGIid = 2137410
- | GeneAtlas_image1 = PBB_GE_PEO1_218590_at_tn.png
- | Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0003678 |text = DNA helicase activity}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0016787 |text = hydrolase activity}}
- | Component = {{GNF_GO|id=GO:0005739 |text = mitochondrion}}
-  | Process = {{GNF_GO|id=GO:0006260 |text = DNA replication}} {{GNF_GO|id=GO:0006268 |text = DNA unwinding during replication}}
- | Orthologs = {{GNF_Ortholog_box
-    | Hs_EntrezGene = 56652
-    | Hs_Ensembl = ENSG00000107815
-    | Hs_RefseqProtein = NP_068602
-    | Hs_RefseqmRNA = NM_021830
-    | Hs_GenLoc_db =
-    | Hs_GenLoc_chr = 10
-    | Hs_GenLoc_start = 102737302
-    | Hs_GenLoc_end = 102744148
-    | Hs_Uniprot = Q96RR1
-    | Mm_EntrezGene = 226153
-    | Mm_Ensembl = ENSMUSG00000025209
-    | Mm_RefseqmRNA = NM_153796
-    | Mm_RefseqProtein = NP_722491
-    | Mm_GenLoc_db =
-    | Mm_GenLoc_chr = 19
-    | Mm_GenLoc_start = 45059869
-    | Mm_GenLoc_end = 45066073
-    | Mm_Uniprot = Q80WJ5
-  }}
-}}
-'''Progressive external ophthalmoplegia 1''', also known as '''PEO1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PEO1 progressive external ophthalmoplegia 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=56652| accessdate = }}</ref>
 <!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
 {{PBB_Summary
 | section_title =
-| summary_text = Twinkle is a mitochondrial protein with structural similarity to the phage T7 primase/helicase (GP4) and other hexameric ring helicases. The twinkle protein colocalizes with mtDNA in mitochondrial nucleoids, and its name derives from the unusual localization pattern reminiscent of twinkling stars (Spelbrink et al., 2001).[supplied by OMIM]<ref name="entrez">{{cite web | title = Entrez Gene: PEO1 progressive external ophthalmoplegia 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=56652| accessdate = }}</ref>
+| summary_text = Twinkle is a mitochondrial protein with structural similarity to the phage T7 primase/helicase (GP4) and other hexameric ring helicases. The twinkle protein colocalizes with mtDNA in mitochondrial nucleoids, and its name derives from the unusual localization pattern reminiscent of twinkling stars (Spelbrink et al., 2001).[supplied by OMIM]<ref name="entrez" />
 }}
 ==References==
-{{reflist|2}}
+{{reflist}}
 ==Further reading==
 {{refbegin | 2}}
 {{PBB_Further_reading
 | citations =
-*{{cite journal  | author=Suomalainen A, Kaukonen J, Amati P, ''et al.'' |title=An autosomal locus predisposing to deletions of mitochondrial DNA. |journal=Nat. Genet. |volume=9 |issue= 2 |pages= 146-51 |year= 1995 |pmid= 7719341 |doi= 10.1038/ng0295-146 }}
+*{{cite journal  | author=Suomalainen A |title=An autosomal locus predisposing to deletions of mitochondrial DNA |journal=Nat. Genet. |volume=9 |issue= 2 |pages= 146–51 |year= 1995 |pmid= 7719341 |doi= 10.1038/ng0295-146  |name-list-format=vanc| author2=Kaukonen J  | author3=Amati P  | display-authors=3  | last4=Timonen  | first4=Ritva  | last5=Haltia  | first5=Matti  | last6=Weissenbach  | first6=Jean  | last7=Zeviani  | first7=Massimo  | last8=Somer  | first8=Hannu  | last9=Peltonen  | first9=Leena }}
-*{{cite journal  | author=Spelbrink JN, Li FY, Tiranti V, ''et al.'' |title=Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. |journal=Nat. Genet. |volume=28 |issue= 3 |pages= 223-31 |year= 2001 |pmid= 11431692 |doi= 10.1038/90058 }}
+*{{cite journal  |vauthors=Hirano M, DiMauro S |title=ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia |journal=Neurology |volume=57 |issue= 12 |pages= 2163–5 |year= 2003 |pmid= 11756592 |doi=  10.1212/wnl.57.12.2163}}
-*{{cite journal  | author=Hirano M, DiMauro S |title=ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia. |journal=Neurology |volume=57 |issue= 12 |pages= 2163-5 |year= 2003 |pmid= 11756592 |doi=  }}
+*{{cite journal  |vauthors=Lewis S, Hutchison W, Thyagarajan D, Dahl HH |title=Clinical and molecular features of adPEO due to mutations in the Twinkle gene |journal=J. Neurol. Sci. |volume=201 |issue= 1–2 |pages= 39–44 |year= 2002 |pmid= 12163192 |doi=10.1016/S0022-510X(02)00190-9  }}
-*{{cite journal  | author=Lewis S, Hutchison W, Thyagarajan D, Dahl HH |title=Clinical and molecular features of adPEO due to mutations in the Twinkle gene. |journal=J. Neurol. Sci. |volume=201 |issue= 1-2 |pages= 39-44 |year= 2002 |pmid= 12163192 |doi=  }}
+*{{cite journal  | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241  |name-list-format=vanc| author2=Feingold EA  | author3=Grouse LH  | display-authors=3  | last4=Derge  | first4=JG  | last5=Klausner  | first5=RD  | last6=Collins  | first6=FS  | last7=Wagner  | first7=L  | last8=Shenmen  | first8=CM  | last9=Schuler  | first9=GD }}
-*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
+*{{cite journal  | author=Arenas J |title=The V368i mutation in Twinkle does not segregate with AdPEO |journal=Ann. Neurol. |volume=53 |issue= 2 |pages= 278 |year= 2003 |pmid= 12557300 |doi= 10.1002/ana.10430  |name-list-format=vanc| author2=Briem E  | author3=Dahl H  | display-authors=3  | last4=Hutchison  | first4=Wendy  | last5=Lewis  | first5=Sharon  | last6=Martin  | first6=Miguel A.  | last7=Spelbrink  | first7=Hans  | last8=Tiranti  | first8=Valeria  | last9=Jacobs  | first9=Howy }}
-*{{cite journal  | author=Arenas J, Briem E, Dahl H, ''et al.'' |title=The V368i mutation in Twinkle does not segregate with AdPEO. |journal=Ann. Neurol. |volume=53 |issue= 2 |pages= 278 |year= 2003 |pmid= 12557300 |doi= 10.1002/ana.10430 }}
+*{{cite journal  | author=Garrido N |title=Composition and Dynamics of Human Mitochondrial Nucleoids |journal=Mol. Biol. Cell |volume=14 |issue= 4 |pages= 1583–96 |year= 2003 |pmid= 12686611 |doi= 10.1091/mbc.E02-07-0399  | pmc=153124  |name-list-format=vanc| author2=Griparic L  | author3=Jokitalo E  | display-authors=3  | last4=Wartiovaara  | first4=J  | last5=Van Der Bliek  | first5=AM  | last6=Spelbrink  | first6=JN }}
-*{{cite journal  | author=Garrido N, Griparic L, Jokitalo E, ''et al.'' |title=Composition and dynamics of human mitochondrial nucleoids. |journal=Mol. Biol. Cell |volume=14 |issue= 4 |pages= 1583-96 |year= 2003 |pmid= 12686611 |doi= 10.1091/mbc.E02-07-0399 }}
+*{{cite journal  | author=Agostino A |title=Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO) |journal=Neurology |volume=60 |issue= 8 |pages= 1354–6 |year= 2004 |pmid= 12707443 |doi=  10.1212/01.wnl.0000056088.09408.3c|name-list-format=vanc| author2=Valletta L  | author3=Chinnery PF  | display-authors=3  | last4=Ferrari  | first4=G  | last5=Carrara  | first5=F  | last6=Taylor  | first6=RW  | last7=Schaefer  | first7=AM  | last8=Turnbull  | first8=DM  | last9=Tiranti  | first9=V  }}
-*{{cite journal  | author=Agostino A, Valletta L, Chinnery PF, ''et al.'' |title=Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). |journal=Neurology |volume=60 |issue= 8 |pages= 1354-6 |year= 2004 |pmid= 12707443 |doi=  }}
+*{{cite journal  | author=Van Goethem G |title=Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle |journal=Hum. Mutat. |volume=22 |issue= 2 |pages= 175–6 |year= 2004 |pmid= 12872260 |doi= 10.1002/humu.10246  |name-list-format=vanc| author2=Löfgren A  | author3=Dermaut B  | display-authors=3  | last4=Ceuterick  | first4=Chantal  | last5=Martin  | first5=Jean-Jacques  | last6=Broeckhoven  | first6=Christine Van }}
-*{{cite journal  | author=Van Goethem G, Löfgren A, Dermaut B, ''et al.'' |title=Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle. |journal=Hum. Mutat. |volume=22 |issue= 2 |pages= 175-6 |year= 2004 |pmid= 12872260 |doi= 10.1002/humu.10246 }}
+*{{cite journal  | author=Deschauer M |title=A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia |journal=Neuromuscul. Disord. |volume=13 |issue= 7–8 |pages= 568–72 |year= 2003 |pmid= 12921794 |doi=10.1016/S0960-8966(03)00071-3  |name-list-format=vanc| author2=Kiefer R  | author3=Blakely EL  | display-authors=3  | last4=He  | first4=Langping  | last5=Zierz  | first5=Stephan  | last6=Turnbull  | first6=Douglass M.  | last7=Taylor  | first7=Robert W.  }}
-*{{cite journal  | author=Deschauer M, Kiefer R, Blakely EL, ''et al.'' |title=A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia. |journal=Neuromuscul. Disord. |volume=13 |issue= 7-8 |pages= 568-72 |year= 2003 |pmid= 12921794 |doi=  }}
+*{{cite journal  |vauthors=Korhonen JA, Gaspari M, Falkenberg M |title=TWINKLE Has 5' -> 3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein |journal=J. Biol. Chem. |volume=278 |issue= 49 |pages= 48627–32 |year= 2004 |pmid= 12975372 |doi= 10.1074/jbc.M306981200 }}
-*{{cite journal  | author=Korhonen JA, Gaspari M, Falkenberg M |title=TWINKLE Has 5' -> 3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein. |journal=J. Biol. Chem. |volume=278 |issue= 49 |pages= 48627-32 |year= 2004 |pmid= 12975372 |doi= 10.1074/jbc.M306981200 }}
+*{{cite journal  | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285  |name-list-format=vanc| author2=Suzuki Y  | author3=Nishikawa T  | display-authors=3  | last4=Otsuki  | first4=Tetsuji  | last5=Sugiyama  | first5=Tomoyasu  | last6=Irie  | first6=Ryotaro  | last7=Wakamatsu  | first7=Ai  | last8=Hayashi  | first8=Koji  | last9=Sato  | first9=Hiroyuki }}
-*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
+*{{cite journal  | author=Deloukas P |title=The DNA sequence and comparative analysis of human chromosome 10 |journal=Nature |volume=429 |issue= 6990 |pages= 375–81 |year= 2004 |pmid= 15164054 |doi= 10.1038/nature02462  |name-list-format=vanc| author2=Earthrowl ME  | author3=Grafham DV  | display-authors=3  | last4=Rubenfield  | first4=M.  | last5=French  | first5=L.  | last6=Steward  | first6=C. A.  | last7=Sims  | first7=S. K.  | last8=Jones  | first8=M. C.  | last9=Searle  | first9=S. }}
-*{{cite journal  | author=Deloukas P, Earthrowl ME, Grafham DV, ''et al.'' |title=The DNA sequence and comparative analysis of human chromosome 10. |journal=Nature |volume=429 |issue= 6990 |pages= 375-81 |year= 2004 |pmid= 15164054 |doi= 10.1038/nature02462 }}
+*{{cite journal  |vauthors=Korhonen JA, Pham XH, Pellegrini M, Falkenberg M |title=Reconstitution of a minimal mtDNA replisome in vitro |journal=EMBO J. |volume=23 |issue= 12 |pages= 2423–9 |year= 2004 |pmid= 15167897 |doi= 10.1038/sj.emboj.7600257  | pmc=423294 }}
-*{{cite journal  | author=Korhonen JA, Pham XH, Pellegrini M, Falkenberg M |title=Reconstitution of a minimal mtDNA replisome in vitro. |journal=EMBO J. |volume=23 |issue= 12 |pages= 2423-9 |year= 2004 |pmid= 15167897 |doi= 10.1038/sj.emboj.7600257 }}
+*{{cite journal  | author=Wanrooij S |title=Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA |journal=Nucleic Acids Res. |volume=32 |issue= 10 |pages= 3053–64 |year= 2004 |pmid= 15181170 |doi= 10.1093/nar/gkh634  | pmc=434440  |name-list-format=vanc| author2=Luoma P  | author3=van Goethem G  | display-authors=3  | last4=Van Broeckhoven  | first4=C  | last5=Suomalainen  | first5=A  | last6=Spelbrink  | first6=JN }}
-*{{cite journal  | author=Wanrooij S, Luoma P, van Goethem G, ''et al.'' |title=Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA. |journal=Nucleic Acids Res. |volume=32 |issue= 10 |pages= 3053-64 |year= 2004 |pmid= 15181170 |doi= 10.1093/nar/gkh634 }}
+*{{cite journal  | author=Tyynismaa H |title=Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number |journal=Hum. Mol. Genet. |volume=13 |issue= 24 |pages= 3219–27 |year= 2005 |pmid= 15509589 |doi= 10.1093/hmg/ddh342  |name-list-format=vanc| author2=Sembongi H  | author3=Bokori-Brown M  | display-authors=3  | last4=Granycome  | first4=C  | last5=Ashley  | first5=N  | last6=Poulton  | first6=J  | last7=Jalanko  | first7=A  | last8=Spelbrink  | first8=JN  | last9=Holt  | first9=IJ }}
-*{{cite journal  | author=Tyynismaa H, Sembongi H, Bokori-Brown M, ''et al.'' |title=Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number. |journal=Hum. Mol. Genet. |volume=13 |issue= 24 |pages= 3219-27 |year= 2005 |pmid= 15509589 |doi= 10.1093/hmg/ddh342 }}
+*{{cite journal  | author=Hudson G |title=Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism |journal=Neurology |volume=64 |issue= 2 |pages= 371–3 |year= 2005 |pmid= 15668446 |doi= 10.1212/01.WNL.0000149767.51152.83  |name-list-format=vanc| author2=Deschauer M  | author3=Busse K  | display-authors=3  | last4=Zierz  | first4=S.  | last5=Chinnery  | first5=P. F. }}
-*{{cite journal  | author=Hudson G, Deschauer M, Busse K, ''et al.'' |title=Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism. |journal=Neurology |volume=64 |issue= 2 |pages= 371-3 |year= 2005 |pmid= 15668446 |doi= 10.1212/01.WNL.0000149767.51152.83 }}
+*{{cite journal  |vauthors=Ziebarth TD, Farr CL, Kaguni LS |title=Modular Architecture of the Hexameric Human Mitochondrial DNA Helicase |journal=J. Mol. Biol. |volume=367 |issue= 5 |pages= 1382–91 |year= 2007 |pmid= 17324440 |doi= 10.1016/j.jmb.2007.01.079  | pmc=2711006 }}
-*{{cite journal  | author=Nikali K, Suomalainen A, Saharinen J, ''et al.'' |title=Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. |journal=Hum. Mol. Genet. |volume=14 |issue= 20 |pages= 2981-90 |year= 2006 |pmid= 16135556 |doi= 10.1093/hmg/ddi328 }}
+*{{cite journal  |vauthors=Baloh RH, Salavaggione E, Milbrandt J, Pestronk A |title=Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle |journal=Arch. Neurol. |volume=64 |issue= 7 |pages= 998–1000 |year= 2007 |pmid= 17620490 |doi= 10.1001/archneur.64.7.998 }}
-*{{cite journal  | author=Ziebarth TD, Farr CL, Kaguni LS |title=Modular architecture of the hexameric human mitochondrial DNA helicase. |journal=J. Mol. Biol. |volume=367 |issue= 5 |pages= 1382-91 |year= 2007 |pmid= 17324440 |doi= 10.1016/j.jmb.2007.01.079 }}
-*{{cite journal  | author=Baloh RH, Salavaggione E, Milbrandt J, Pestronk A |title=Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. |journal=Arch. Neurol. |volume=64 |issue= 7 |pages= 998-1000 |year= 2007 |pmid= 17620490 |doi= 10.1001/archneur.64.7.998 }}
 }}
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PEO1: Difference between revisions

Latest revision as of 17:56, 7 September 2017

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