PNKP

PNKP
사용 가능한 구조
PDB	Ortholog 검색: PDBe RCSB
PDB ID 코드 목록
	2BRF, 2W3O
식별자
에일리어스	PNKP, EIE10, MCSZ, PNK, AOA4, 폴리뉴클레오티드인산화효소3'-포스파타아제, CMT2B2
외부 ID	OMIM : 605610 MGI : 1891698 HomoloGene : 5247 Genecard : PNKP
유전자 위치(인간)
크르.	19번 염색체(인간)
끝.	49,878,351 bp
유전자 위치(마우스)
크르.	7번 염색체(쥐)
끝.	44,416 bp
RNA발현패턴
	상단 표시 위치:
	우측 자궁관; ; 뇌하수체 전엽; ; 갑상선 우엽; ; 좌부신; ; 갑상선 좌엽; ; 좌측 자궁관; ; 상부 신경; ; 위체; ; 비장; ; 자궁경관;
	추가 참조 표현식 데이터
	추가 참조 표현식 데이터
유전자 존재론
분자 함수	트랜스페라아제 활성; 뉴클레오티드 결합; 폴리디옥시리보뉴클레오티드5'-히드록실화활성; 키나아제활성; 손상 DNA결합; GO:0001948 단백질 결합; 촉매 활성; 푸린뉴클레오티드결합; 엔도핵산가수분해효소활성; 이중가닥DNA결합; 가수분해효소활성; ATP 결합; 폴리뉴클레오티드3'-아카타아제활성; 뉴클레오시드1인산인산화효소활성; 폴리뉴클레오티드인산화효소활성;
셀룰러 컴포넌트	막; 핵소체; 핵소체; 핵; 미토콘드리아;
생물학적 과정	DNA의존성DNA복제; 뉴클레오티드 절제 복구, DNA 손상 제거; 텔로미어 캡핑의 양성 조절; 인산화; 텔로머라아제를 통한 텔로미어 유지의 양성 조절; 산화 스트레스에 대한 반응; DNA 손상 자극에 대한 세포 반응; 뉴클레오티드인산화; 텔로머라아제 활성의 양성 조절; 방사선에 대한 반응; 대사; 탈인산화; 폴리뉴클레오티드3'탈인산화; DNA복구; 핵산포스포디에스테르결합가수분해; 단백질 ADP-리보실화 음성조절; 뉴클레오시드1인산인산화;
	출처:아미고 / QuickGO
맞춤법
	11284
	59047
	ENSG000039650
	ENSMUSG00000002963
	Q96T60
	Q9JLV6
	NM_007254
	NM_001290764; NM_001290766; NM_001290767; NM_021549
	NP_009185
	없음
	위키데이터
인간 보기/편집	마우스 표시/편집

이관능성 폴리뉴클레오티드 포스파타아제/키나아제는 사람에게서 PNKP ^[5]^[6]^[7]유전자에 의해 암호화되는 효소이다.결정화된 마우스 단백질의 상세한 구조 연구는 5'-폴리뉴클레오티드 키나제와 3'-폴리뉴클레오티드 포스파타아제 ^[8]활성을 모두 조사했다.펩타이드 배열의 추가 특징으로는 포크헤드 어소시에이션(FHA) 도메인, ATP 결합 부위 및 핵 및 미토콘드리아 국재 배열을 포함한다.

상호 작용

PNKP는 DNA 중합효소^[9] 베타 및 XRCC1과 ^[9]^[10]상호작용하는 것으로 나타났다.

신경 질환에서의 역할

PNKP를 코드하는 인간 유전자는 소두증, 발작 및 DNA 수복결함이 있는 환자에서^[11]^[12]^[13]^[14] 돌연변이가 관찰되었다.열성 운동 실조증의 일종도 PNKP ^[15]돌연변이와 관련되어 있다.PNKP의 ^[16]새롭게 특징지어진 병리학적 변종도 있다.생쥐와 드로소필라와 같은 모델 유기체가 더 많은 통찰력을 ^[17]^[18]만들어내기 위해 사용되어 왔다.

레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG000039650 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG00000002963 - 앙상블, 2017년 5월
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Jilani A, Ramotar D, Slack C, Ong C, Yang XM, Scherer SW, Lasko DD (September 1999). "Molecular cloning of the human gene, PNKP, encoding a polynucleotide kinase 3'-phosphatase and evidence for its role in repair of DNA strand breaks caused by oxidative damage". J. Biol. Chem. 274 (34): 24176–86. doi:10.1074/jbc.274.34.24176. PMID 10446192.
^ Karimi-Busheri F, Daly G, Robins P, Canas B, Pappin DJ, Sgouros J, Miller GG, Fakhrai H, Davis EM, Le Beau MM, Weinfeld M (September 1999). "Molecular characterization of a human DNA kinase". J. Biol. Chem. 274 (34): 24187–94. doi:10.1074/jbc.274.34.24187. PMID 10446193.
^ "Entrez Gene: PNKP polynucleotide kinase 3'-phosphatase".
^ Garces, Fernando; Pearl, Laurence H.; Oliver, Antony W. (November 2011). "The Structural Basis for Substrate Recognition by Mammalian Polynucleotide Kinase 3′ Phosphatase". Molecular Cell. 44 (3): 385–396. doi:10.1016/j.molcel.2011.08.036. PMC 4820033. PMID 22055185.
^ ^a ^b Whitehouse CJ, Taylor RM, Thistlethwaite A, Zhang H, Karimi-Busheri F, Lasko DD, Weinfeld M, Caldecott KW (January 2001). "XRCC1 stimulates human polynucleotide kinase activity at damaged DNA termini and accelerates DNA single-strand break repair". Cell. 104 (1): 107–17. doi:10.1016/S0092-8674(01)00195-7. PMID 11163244. S2CID 1487128.
^ Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
^ Dumitrache, Lavinia C.; McKinnon, Peter J. (2017). "Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease". Mechanisms of Ageing and Development. 161 (Pt A): 121–129. doi:10.1016/j.mad.2016.04.009. PMC 5161711. PMID 27125728.
^ Shen, Jun; Gilmore, Edward C; Marshall, Christine A; Haddadin, Mary; Reynolds, John J; Eyaid, Wafaa; Bodell, Adria; Barry, Brenda; Gleason, Danielle; Allen, Kathryn; Ganesh, Vijay S (2010). "Mutations in PNKP cause microcephaly, seizures and defects in DNA repair". Nat Genet. 42 (3): 245–249. doi:10.1038/ng.526. ISSN 1061-4036. PMC 2835984. PMID 20118933.
^ Issa, Lina; Mueller, Katrin; Seufert, Katja; Kraemer, Nadine; Rosenkotter, Henning; Ninnemann, Olaf; Buob, Michael; Kaindl, Angela M; Morris-Rosendahl, Deborah J (2013). "Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation". Orphanet Journal of Rare Diseases. 8 (1): 59. doi:10.1186/1750-1172-8-59. ISSN 1750-1172. PMC 3639195. PMID 23587236.
^ Kalasova, Ilona; Hanzlikova, Hana; Gupta, Neerja; Li, Yun; Altmüller, Janine; Reynolds, John J.; Stewart, Grant S.; Wollnik, Bernd; Yigit, Gökhan; Caldecott, Keith W. (2019). "Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ". Neurol Genet. 5 (2): e320. doi:10.1212/NXG.0000000000000320. ISSN 2376-7839. PMC 6454307. PMID 31041400.
^ Bras, Jose; Alonso, Isabel; Barbot, Clara; Costa, Maria Manuela; Darwent, Lee; Orme, Tatiana; Sequeiros, Jorge; Hardy, John; Coutinho, Paula; Guerreiro, Rita (2015). "Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4". The American Journal of Human Genetics. 96 (3): 474–479. doi:10.1016/j.ajhg.2015.01.005. PMC 4375449. PMID 25728773.
^ Gatti, Marta; Magri, Stefania; Nanetti, Lorenzo; Sarto, Elisa; Di Bella, Daniela; Salsano, Ettore; Pantaleoni, Chiara; Mariotti, Caterina; Taroni, Franco (2019). "From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations". American Journal of Medical Genetics Part A. 179 (11): 2277–2283. doi:10.1002/ajmg.a.61339. ISSN 1552-4825. PMID 31436889. S2CID 201275630.
^ Shimada, Mikio; Dumitrache, Lavinia C; Russell, Helen R; McKinnon, Peter J (2015). "Polynucleotide kinase–phosphatase enables neurogenesis via multiple DNA repair pathways to maintain genome stability". The EMBO Journal. 34 (19): 2465–2480. doi:10.15252/embj.201591363. ISSN 0261-4189. PMC 4601665. PMID 26290337.
^ Chakraborty, Anirban; Tapryal, Nisha; Venkova, Tatiana; Mitra, Joy; Vasquez, Velmarini; Sarker, Altaf H.; Duarte-Silva, Sara; Huai, Weihan; Ashizawa, Tetsuo; Ghosh, Gourisankar; Maciel, Patricia (2020-04-07). "Deficiency in classical nonhomologous end-joining–mediated repair of transcribed genes is linked to SCA3 pathogenesis". Proceedings of the National Academy of Sciences. 117 (14): 8154–8165. doi:10.1073/pnas.1917280117. ISSN 0027-8424. PMC 7148577. PMID 32205441.

추가 정보

Whitehouse CJ, Taylor RM, Thistlethwaite A, Zhang H, Karimi-Busheri F, Lasko DD, Weinfeld M, Caldecott KW (2001). "XRCC1 stimulates human polynucleotide kinase activity at damaged DNA termini and accelerates DNA single-strand break repair". Cell. 104 (1): 107–17. doi:10.1016/S0092-8674(01)00195-7. PMID 11163244. S2CID 1487128.
Chappell C, Hanakahi LA, Karimi-Busheri F, Weinfeld M, West SC (2002). "Involvement of human polynucleotide kinase in double-strand break repair by non-homologous end joining". EMBO J. 21 (11): 2827–32. doi:10.1093/emboj/21.11.2827. PMC 126026. PMID 12032095.
Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA (2002). "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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Mani RS, Karimi-Busheri F, Fanta M, Cass CE, Weinfeld M (2003). "Spectroscopic studies of DNA and ATP binding to human polynucleotide kinase: evidence for a ternary complex". Biochemistry. 42 (41): 12077–84. doi:10.1021/bi030127b. PMID 14556639.
Loizou JI, El-Khamisy SF, Zlatanou A, Moore DJ, Chan DW, Qin J, Sarno S, Meggio F, Pinna LA, Caldecott KW (2004). "The protein kinase CK2 facilitates repair of chromosomal DNA single-strand breaks". Cell. 117 (1): 17–28. doi:10.1016/S0092-8674(04)00206-5. PMID 15066279. S2CID 8592154.
Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A, Meil A, Wojcik J, Legrain P, Gauthier JM (2004). "Functional proteomics mapping of a human signaling pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
Wiederhold L, Leppard JB, Kedar P, Karimi-Busheri F, Rasouli-Nia A, Weinfeld M, Tomkinson AE, Izumi T, Prasad R, Wilson SH, Mitra S, Hazra TK (2004). "AP endonuclease-independent DNA base excision repair in human cells". Mol. Cell. 15 (2): 209–20. doi:10.1016/j.molcel.2004.06.003. PMID 15260972.
Koch CA, Agyei R, Galicia S, Metalnikov P, O'Donnell P, Starostine A, Weinfeld M, Durocher D (2004). "Xrcc4 physically links DNA end processing by polynucleotide kinase to DNA ligation by DNA ligase IV". EMBO J. 23 (19): 3874–85. doi:10.1038/sj.emboj.7600375. PMC 522785. PMID 15385968.
Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI, Mann M (2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. Bibcode:2005Natur.433...77A. doi:10.1038/nature03207. PMID 15635413. S2CID 4344740.
Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
Audebert M, Salles B, Weinfeld M, Calsou P (2006). "Involvement of polynucleotide kinase in a poly(ADP-ribose) polymerase-1-dependent DNA double-strand breaks rejoining pathway". J. Mol. Biol. 356 (2): 257–65. doi:10.1016/j.jmb.2005.11.028. PMID 16364363.
Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
Karimi-Busheri F, Rasouli-Nia A, Allalunis-Turner J, Weinfeld M (2007). "Human polynucleotide kinase participates in repair of DNA double-strand breaks by nonhomologous end joining but not homologous recombination". Cancer Res. 67 (14): 6619–25. doi:10.1158/0008-5472.CAN-07-0480. PMID 17638872.
Mani RS, Fanta M, Karimi-Busheri F, Silver E, Virgen CA, Caldecott KW, Cass CE, Weinfeld M (2007). "XRCC1 stimulates polynucleotide kinase by enhancing its damage discrimination and displacement from DNA repair intermediates". J. Biol. Chem. 282 (38): 28004–13. doi:10.1074/jbc.M704867200. PMID 17650498.

인간 염색체 19번 유전자에 대한 이 기사는 짧은 글이다.위키피디아를 확장함으로써 위키피디아를 도울 수 있습니다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG000039650 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG00000002963 - 앙상블, 2017년 5월

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10446192-5] Jilani A, Ramotar D, Slack C, Ong C, Yang XM, Scherer SW, Lasko DD (September 1999). "Molecular cloning of the human gene, PNKP, encoding a polynucleotide kinase 3'-phosphatase and evidence for its role in repair of DNA strand breaks caused by oxidative damage". J. Biol. Chem. 274 (34): 24176–86. doi:10.1074/jbc.274.34.24176. PMID 10446192.

[pmid10446193-6] Karimi-Busheri F, Daly G, Robins P, Canas B, Pappin DJ, Sgouros J, Miller GG, Fakhrai H, Davis EM, Le Beau MM, Weinfeld M (September 1999). "Molecular characterization of a human DNA kinase". J. Biol. Chem. 274 (34): 24187–94. doi:10.1074/jbc.274.34.24187. PMID 10446193.

[entrez-7] "Entrez Gene: PNKP polynucleotide kinase 3'-phosphatase".

[8] Garces, Fernando; Pearl, Laurence H.; Oliver, Antony W. (November 2011). "The Structural Basis for Substrate Recognition by Mammalian Polynucleotide Kinase 3′ Phosphatase". Molecular Cell. 44 (3): 385–396. doi:10.1016/j.molcel.2011.08.036. PMC 4820033. PMID 22055185.

[pmid11163244-9] Whitehouse CJ, Taylor RM, Thistlethwaite A, Zhang H, Karimi-Busheri F, Lasko DD, Weinfeld M, Caldecott KW (January 2001). "XRCC1 stimulates human polynucleotide kinase activity at damaged DNA termini and accelerates DNA single-strand break repair". Cell. 104 (1): 107–17. doi:10.1016/S0092-8674(01)00195-7. PMID 11163244. S2CID 1487128.

[pmid17353931-10] Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.

[11] Dumitrache, Lavinia C.; McKinnon, Peter J. (2017). "Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease". Mechanisms of Ageing and Development. 161 (Pt A): 121–129. doi:10.1016/j.mad.2016.04.009. PMC 5161711. PMID 27125728.

[12] Shen, Jun; Gilmore, Edward C; Marshall, Christine A; Haddadin, Mary; Reynolds, John J; Eyaid, Wafaa; Bodell, Adria; Barry, Brenda; Gleason, Danielle; Allen, Kathryn; Ganesh, Vijay S (2010). "Mutations in PNKP cause microcephaly, seizures and defects in DNA repair". Nat Genet. 42 (3): 245–249. doi:10.1038/ng.526. ISSN 1061-4036. PMC 2835984. PMID 20118933.

[13] Issa, Lina; Mueller, Katrin; Seufert, Katja; Kraemer, Nadine; Rosenkotter, Henning; Ninnemann, Olaf; Buob, Michael; Kaindl, Angela M; Morris-Rosendahl, Deborah J (2013). "Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation". Orphanet Journal of Rare Diseases. 8 (1): 59. doi:10.1186/1750-1172-8-59. ISSN 1750-1172. PMC 3639195. PMID 23587236.

[14] Kalasova, Ilona; Hanzlikova, Hana; Gupta, Neerja; Li, Yun; Altmüller, Janine; Reynolds, John J.; Stewart, Grant S.; Wollnik, Bernd; Yigit, Gökhan; Caldecott, Keith W. (2019). "Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ". Neurol Genet. 5 (2): e320. doi:10.1212/NXG.0000000000000320. ISSN 2376-7839. PMC 6454307. PMID 31041400.

[15] Bras, Jose; Alonso, Isabel; Barbot, Clara; Costa, Maria Manuela; Darwent, Lee; Orme, Tatiana; Sequeiros, Jorge; Hardy, John; Coutinho, Paula; Guerreiro, Rita (2015). "Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4". The American Journal of Human Genetics. 96 (3): 474–479. doi:10.1016/j.ajhg.2015.01.005. PMC 4375449. PMID 25728773.

[16] Gatti, Marta; Magri, Stefania; Nanetti, Lorenzo; Sarto, Elisa; Di Bella, Daniela; Salsano, Ettore; Pantaleoni, Chiara; Mariotti, Caterina; Taroni, Franco (2019). "From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations". American Journal of Medical Genetics Part A. 179 (11): 2277–2283. doi:10.1002/ajmg.a.61339. ISSN 1552-4825. PMID 31436889. S2CID 201275630.

[17] Shimada, Mikio; Dumitrache, Lavinia C; Russell, Helen R; McKinnon, Peter J (2015). "Polynucleotide kinase–phosphatase enables neurogenesis via multiple DNA repair pathways to maintain genome stability". The EMBO Journal. 34 (19): 2465–2480. doi:10.15252/embj.201591363. ISSN 0261-4189. PMC 4601665. PMID 26290337.

[18] Chakraborty, Anirban; Tapryal, Nisha; Venkova, Tatiana; Mitra, Joy; Vasquez, Velmarini; Sarker, Altaf H.; Duarte-Silva, Sara; Huai, Weihan; Ashizawa, Tetsuo; Ghosh, Gourisankar; Maciel, Patricia (2020-04-07). "Deficiency in classical nonhomologous end-joining–mediated repair of transcribed genes is linked to SCA3 pathogenesis". Proceedings of the National Academy of Sciences. 117 (14): 8154–8165. doi:10.1073/pnas.1917280117. ISSN 0027-8424. PMC 7148577. PMID 32205441.

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