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Items: 1 to 50 of 250

1.

Xeroderma pigmentosum: overview of pharmacology and novel therapeutic strategies for neurological symptoms.

Abeti R, Zeitlberger A, Peelo C, Fassihi H, Sarkany RPE, Lehmann AR, Giunti P.

Br J Pharmacol. 2018 Nov 30. doi: 10.1111/bph.14557. [Epub ahead of print] Review.

PMID:
30499105
2.

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.

Calmels N, Botta E, Jia N, Fawcett H, Nardo T, Nakazawa Y, Lanzafame M, Moriwaki S, Sugita K, Kubota M, Obringer C, Spitz MA, Stefanini M, Laugel V, Orioli D, Ogi T, Lehmann AR.

J Med Genet. 2018 May;55(5):329-343. doi: 10.1136/jmedgenet-2017-104877. Epub 2018 Mar 23.

PMID:
29572252
3.

Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome.

Garcia-Moreno H, Fassihi H, Sarkany RPE, Phukan J, Warner T, Lehmann AR, Giunti P.

Ann Clin Transl Neurol. 2017 Dec 4;5(1):102-108. doi: 10.1002/acn3.511. eCollection 2018 Jan.

4.

Phosphorylation regulates human polη stability and damage bypass throughout the cell cycle.

Bertoletti F, Cea V, Liang CC, Lanati T, Maffia A, Avarello MDM, Cipolla L, Lehmann AR, Cohn MA, Sabbioneda S.

Nucleic Acids Res. 2017 Sep 19;45(16):9441-9454. doi: 10.1093/nar/gkx619.

5.

Specialized interfaces of Smc5/6 control hinge stability and DNA association.

Alt A, Dang HQ, Wells OS, Polo LM, Smith MA, McGregor GA, Welte T, Lehmann AR, Pearl LH, Murray JM, Oliver AW.

Nat Commun. 2017 Jan 30;8:14011. doi: 10.1038/ncomms14011.

6.

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease.

van der Crabben SN, Hennus MP, McGregor GA, Ritter DI, Nagamani SC, Wells OS, Harakalova M, Chinn IK, Alt A, Vondrova L, Hochstenbach R, van Montfrans JM, Terheggen-Lagro SW, van Lieshout S, van Roosmalen MJ, Renkens I, Duran K, Nijman IJ, Kloosterman WP, Hennekam E, Orange JS, van Hasselt PM, Wheeler DA, Palecek JJ, Lehmann AR, Oliver AW, Pearl LH, Plon SE, Murray JM, van Haaften G.

J Clin Invest. 2016 Aug 1;126(8):2881-92. doi: 10.1172/JCI82890. Epub 2016 Jul 18.

7.

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.

Kuschal C, Botta E, Orioli D, Digiovanna JJ, Seneca S, Keymolen K, Tamura D, Heller E, Khan SG, Caligiuri G, Lanzafame M, Nardo T, Ricotti R, Peverali FA, Stephens R, Zhao Y, Lehmann AR, Baranello L, Levens D, Kraemer KH, Stefanini M.

Am J Hum Genet. 2016 Apr 7;98(4):627-42. doi: 10.1016/j.ajhg.2016.02.008. Epub 2016 Mar 17.

8.

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.

Fassihi H, Sethi M, Fawcett H, Wing J, Chandler N, Mohammed S, Craythorne E, Morley AM, Lim R, Turner S, Henshaw T, Garrood I, Giunti P, Hedderly T, Abiona A, Naik H, Harrop G, McGibbon D, Jaspers NG, Botta E, Nardo T, Stefanini M, Young AR, Sarkany RP, Lehmann AR.

Proc Natl Acad Sci U S A. 2016 Mar 1;113(9):E1236-45. doi: 10.1073/pnas.1519444113. Epub 2016 Feb 16.

9.

A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan.

Sethi M, Haque S, Fawcett H, Wing JF, Chandler N, Mohammed S, Frayling IM, Norris PG, McGibbon D, Young AR, Sarkany RPE, Lehmann AR, Fassihi H.

J Invest Dermatol. 2016 Apr;136(4):869-872. doi: 10.1016/j.jid.2015.12.031. Epub 2015 Dec 29. No abstract available.

10.

Chromatin association of the SMC5/6 complex is dependent on binding of its NSE3 subunit to DNA.

Zabrady K, Adamus M, Vondrova L, Liao C, Skoupilova H, Novakova M, Jurcisinova L, Alt A, Oliver AW, Lehmann AR, Palecek JJ.

Nucleic Acids Res. 2016 Feb 18;44(3):1064-79. doi: 10.1093/nar/gkv1021. Epub 2015 Oct 7.

11.

XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency.

Guo C, Nakazawa Y, Woodbine L, Björkman A, Shimada M, Fawcett H, Jia N, Ohyama K, Li TS, Nagayama Y, Mitsutake N, Pan-Hammarström Q, Gennery AR, Lehmann AR, Jeggo PA, Ogi T.

J Allergy Clin Immunol. 2015 Oct;136(4):1007-17. doi: 10.1016/j.jaci.2015.06.007. Epub 2015 Aug 5.

PMID:
26255102
12.

USP7 is essential for maintaining Rad18 stability and DNA damage tolerance.

Zlatanou A, Sabbioneda S, Miller ES, Greenwalt A, Aggathanggelou A, Maurice MM, Lehmann AR, Stankovic T, Reverdy C, Colland F, Vaziri C, Stewart GS.

Oncogene. 2016 Feb 25;35(8):965-76. doi: 10.1038/onc.2015.149. Epub 2015 May 11.

PMID:
25961918
13.

TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin.

Arseni L, Lanzafame M, Compe E, Fortugno P, Afonso-Barroso A, Peverali FA, Lehmann AR, Zambruno G, Egly JM, Stefanini M, Orioli D.

Proc Natl Acad Sci U S A. 2015 Feb 3;112(5):1499-504. doi: 10.1073/pnas.1416181112. Epub 2015 Jan 20.

14.

The melanoma-associated antigen 1 (MAGEA1) protein stimulates the E3 ubiquitin-ligase activity of TRIM31 within a TRIM31-MAGEA1-NSE4 complex.

Kozakova L, Vondrova L, Stejskal K, Charalabous P, Kolesar P, Lehmann AR, Uldrijan S, Sanderson CM, Zdrahal Z, Palecek JJ.

Cell Cycle. 2015;14(6):920-30. doi: 10.1080/15384101.2014.1000112.

15.

Transcription restores DNA repair to heterochromatin, determining regional mutation rates in cancer genomes.

Zheng CL, Wang NJ, Chung J, Moslehi H, Sanborn JZ, Hur JS, Collisson EA, Vemula SS, Naujokas A, Chiotti KE, Cheng JB, Fassihi H, Blumberg AJ, Bailey CV, Fudem GM, Mihm FG, Cunningham BB, Neuhaus IM, Liao W, Oh DH, Cleaver JE, LeBoit PE, Costello JF, Lehmann AR, Gray JW, Spellman PT, Arron ST, Huh N, Purdom E, Cho RJ.

Cell Rep. 2014 Nov 20;9(4):1228-34. doi: 10.1016/j.celrep.2014.10.031. Epub 2014 Nov 20.

16.

Xeroderma pigmentosum in the United kingdom.

Lehmann AR.

Photochem Photobiol. 2015 Mar-Apr;91(2):484-5. doi: 10.1111/php.12301. Epub 2014 Jul 14.

PMID:
24943090
17.

Hypomorphic PCNA mutation underlies a human DNA repair disorder.

Baple EL, Chambers H, Cross HE, Fawcett H, Nakazawa Y, Chioza BA, Harlalka GV, Mansour S, Sreekantan-Nair A, Patton MA, Muggenthaler M, Rich P, Wagner K, Coblentz R, Stein CK, Last JI, Taylor AM, Jackson AP, Ogi T, Lehmann AR, Green CM, Crosby AH.

J Clin Invest. 2014 Jul;124(7):3137-46. doi: 10.1172/JCI74593. Epub 2014 Jun 9.

18.

Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions.

Sethi M, Lehmann AR, Fawcett H, Stefanini M, Jaspers N, Mullard K, Turner S, Robson A, McGibbon D, Sarkany R, Fassihi H.

Br J Dermatol. 2013 Dec;169(6):1279-87. doi: 10.1111/bjd.12523.

PMID:
23889214
19.

Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.

Kashiyama K, Nakazawa Y, Pilz DT, Guo C, Shimada M, Sasaki K, Fawcett H, Wing JF, Lewin SO, Carr L, Li TS, Yoshiura K, Utani A, Hirano A, Yamashita S, Greenblatt D, Nardo T, Stefanini M, McGibbon D, Sarkany R, Fassihi H, Takahashi Y, Nagayama Y, Mitsutake N, Lehmann AR, Ogi T.

Am J Hum Genet. 2013 May 2;92(5):807-19. doi: 10.1016/j.ajhg.2013.04.007. Epub 2013 Apr 25.

20.

SMC6 is an essential gene in mice, but a hypomorphic mutant in the ATPase domain has a mild phenotype with a range of subtle abnormalities.

Ju L, Wing J, Taylor E, Brandt R, Slijepcevic P, Horsch M, Rathkolb B, Rácz I, Becker L, Hans W, Adler T, Beckers J, Rozman J, Klingenspor M, Wolf E, Zimmer A, Klopstock T, Busch DH, Gailus-Durner V, Fuchs H, de Angelis MH, van der Horst G, Lehmann AR.

DNA Repair (Amst). 2013 May 1;12(5):356-66. doi: 10.1016/j.dnarep.2013.02.006. Epub 2013 Mar 18.

PMID:
23518413
21.

A role for chromatin remodellers in replication of damaged DNA.

Niimi A, Chambers AL, Downs JA, Lehmann AR.

Nucleic Acids Res. 2012 Aug;40(15):7393-403. doi: 10.1093/nar/gks453. Epub 2012 May 25.

22.

DNA repair, DNA replication and human disorders: a personal journey.

Lehmann AR.

DNA Repair (Amst). 2012 Apr 1;11(4):328-34. No abstract available.

PMID:
22570876
23.

Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.

Nakazawa Y, Sasaki K, Mitsutake N, Matsuse M, Shimada M, Nardo T, Takahashi Y, Ohyama K, Ito K, Mishima H, Nomura M, Kinoshita A, Ono S, Takenaka K, Masuyama R, Kudo T, Slor H, Utani A, Tateishi S, Yamashita S, Stefanini M, Lehmann AR, Yoshiura K, Ogi T.

Nat Genet. 2012 May;44(5):586-92. doi: 10.1038/ng.2229.

PMID:
22466610
24.

Y-family DNA polymerases and their role in tolerance of cellular DNA damage.

Sale JE, Lehmann AR, Woodgate R.

Nat Rev Mol Cell Biol. 2012 Feb 23;13(3):141-52. doi: 10.1038/nrm3289. Review.

25.

Xeroderma pigmentosum.

Lehmann AR, McGibbon D, Stefanini M.

Orphanet J Rare Dis. 2011 Nov 1;6:70. doi: 10.1186/1750-1172-6-70. Review.

26.

Human exonuclease 1 connects nucleotide excision repair (NER) processing with checkpoint activation in response to UV irradiation.

Sertic S, Pizzi S, Cloney R, Lehmann AR, Marini F, Plevani P, Muzi-Falconi M.

Proc Natl Acad Sci U S A. 2011 Aug 16;108(33):13647-52. doi: 10.1073/pnas.1108547108. Epub 2011 Aug 1.

27.

Ubiquitin-family modifications in the replication of DNA damage.

Lehmann AR.

FEBS Lett. 2011 Sep 16;585(18):2772-9. doi: 10.1016/j.febslet.2011.06.005. Epub 2011 Jun 23. Review.

28.

DNA polymerases and repair synthesis in NER in human cells.

Lehmann AR.

DNA Repair (Amst). 2011 Jul 15;10(7):730-3. doi: 10.1016/j.dnarep.2011.04.023. Epub 2011 May 20. Review.

PMID:
21601536
29.

Interactions between the Nse3 and Nse4 components of the SMC5-6 complex identify evolutionarily conserved interactions between MAGE and EID Families.

Hudson JJ, Bednarova K, Kozakova L, Liao C, Guerineau M, Colnaghi R, Vidot S, Marek J, Bathula SR, Lehmann AR, Palecek J.

PLoS One. 2011 Feb 25;6(2):e17270. doi: 10.1371/journal.pone.0017270.

30.

ATR-mediated phosphorylation of DNA polymerase η is needed for efficient recovery from UV damage.

Göhler T, Sabbioneda S, Green CM, Lehmann AR.

J Cell Biol. 2011 Jan 24;192(2):219-27. doi: 10.1083/jcb.201008076. Epub 2011 Jan 17.

31.

Structure and mechanism of human DNA polymerase eta.

Biertümpfel C, Zhao Y, Kondo Y, Ramón-Maiques S, Gregory M, Lee JY, Masutani C, Lehmann AR, Hanaoka F, Yang W.

Nature. 2010 Jun 24;465(7301):1044-8. doi: 10.1038/nature09196. Erratum in: Nature. 2011 Aug 18;476(7360):360.

32.

Ubiquitin-PCNA fusion as a mimic for mono-ubiquitinated PCNA in Schizosaccharomyces pombe.

Ramasubramanyan S, Coulon S, Fuchs RP, Lehmann AR, Green CM.

DNA Repair (Amst). 2010 Jul 1;9(7):777-84. doi: 10.1016/j.dnarep.2010.03.015. Epub 2010 May 7.

PMID:
20452294
33.

Influence of the live cell DNA marker DRAQ5 on chromatin-associated processes.

Mari PO, Verbiest V, Sabbioneda S, Gourdin AM, Wijgers N, Dinant C, Lehmann AR, Vermeulen W, Giglia-Mari G.

DNA Repair (Amst). 2010 Jul 1;9(7):848-55. doi: 10.1016/j.dnarep.2010.04.001. Epub 2010 May 2.

PMID:
20439168
34.

Three DNA polymerases, recruited by different mechanisms, carry out NER repair synthesis in human cells.

Ogi T, Limsirichaikul S, Overmeer RM, Volker M, Takenaka K, Cloney R, Nakazawa Y, Niimi A, Miki Y, Jaspers NG, Mullenders LH, Yamashita S, Fousteri MI, Lehmann AR.

Mol Cell. 2010 Mar 12;37(5):714-27. doi: 10.1016/j.molcel.2010.02.009.

35.

A semi-automated non-radioactive system for measuring recovery of RNA synthesis and unscheduled DNA synthesis using ethynyluracil derivatives.

Nakazawa Y, Yamashita S, Lehmann AR, Ogi T.

DNA Repair (Amst). 2010 May 4;9(5):506-16. doi: 10.1016/j.dnarep.2010.01.015. Epub 2010 Feb 18.

PMID:
20171149
36.

Regulation of translesion synthesis DNA polymerase eta by monoubiquitination.

Bienko M, Green CM, Sabbioneda S, Crosetto N, Matic I, Hibbert RG, Begovic T, Niimi A, Mann M, Lehmann AR, Dikic I.

Mol Cell. 2010 Feb 12;37(3):396-407. doi: 10.1016/j.molcel.2009.12.039.

37.

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

Laugel V, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J, Lyonnet S, Murday V, Gubser-Mercati D, Funalot B, Brueton L, Sanchez Del Pozo J, Muñoz E, Gennery AR, Salih M, Noruzinia M, Prescott K, Ramos L, Stark Z, Fieggen K, Chabrol B, Sarda P, Edery P, Bloch-Zupan A, Fawcett H, Pham D, Egly JM, Lehmann AR, Sarasin A, Dollfus H.

Hum Mutat. 2010 Feb;31(2):113-26. doi: 10.1002/humu.21154.

PMID:
19894250
38.

A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome.

Forsythe E, Wild R, Sellick G, Houlston RS, Lehmann AR, Wakeling E.

Am J Med Genet A. 2009 Oct;149A(10):2075-9. doi: 10.1002/ajmg.a.32995.

PMID:
19760648
39.

Ubiquitin-binding motif of human DNA polymerase eta is required for correct localization.

Sabbioneda S, Green CM, Bienko M, Kannouche P, Dikic I, Lehmann AR.

Proc Natl Acad Sci U S A. 2009 Feb 24;106(8):E20; author reply E21. doi: 10.1073/pnas.0812744106. No abstract available.

40.

Ubiquitination and deubiquitination of PCNA in response to stalling of the replication fork.

Brown S, Niimi A, Lehmann AR.

Cell Cycle. 2009 Mar 1;8(5):689-92. Epub 2009 Mar 25.

PMID:
19221475
41.

Regulation of proliferating cell nuclear antigen ubiquitination in mammalian cells.

Niimi A, Brown S, Sabbioneda S, Kannouche PL, Scott A, Yasui A, Green CM, Lehmann AR.

Proc Natl Acad Sci U S A. 2008 Oct 21;105(42):16125-30. doi: 10.1073/pnas.0802727105. Epub 2008 Oct 9.

42.

Effect of proliferating cell nuclear antigen ubiquitination and chromatin structure on the dynamic properties of the Y-family DNA polymerases.

Sabbioneda S, Gourdin AM, Green CM, Zotter A, Giglia-Mari G, Houtsmuller A, Vermeulen W, Lehmann AR.

Mol Biol Cell. 2008 Dec;19(12):5193-202. doi: 10.1091/mbc.E08-07-0724. Epub 2008 Sep 17.

43.

Translesion synthesis and error-prone polymerases.

Green CM, Lehmann AR.

Adv Exp Med Biol. 2005;570:199-223. doi: 10.1007/1-4020-3764-3_7. Review. No abstract available.

PMID:
18727502
44.

XPD structure reveals its secrets.

Lehmann AR.

DNA Repair (Amst). 2008 Nov 1;7(11):1912-5. doi: 10.1016/j.dnarep.2008.07.008. Epub 2008 Aug 27. Review.

PMID:
18692601
45.

Neurological symptoms and natural course of xeroderma pigmentosum.

Anttinen A, Koulu L, Nikoskelainen E, Portin R, Kurki T, Erkinjuntti M, Jaspers NG, Raams A, Green MH, Lehmann AR, Wing JF, Arlett CF, Marttila RJ.

Brain. 2008 Aug;131(Pt 8):1979-89. doi: 10.1093/brain/awn126. Epub 2008 Jun 21.

PMID:
18567921
46.

Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy.

Kleijer WJ, Laugel V, Berneburg M, Nardo T, Fawcett H, Gratchev A, Jaspers NG, Sarasin A, Stefanini M, Lehmann AR.

DNA Repair (Amst). 2008 May 3;7(5):744-50. doi: 10.1016/j.dnarep.2008.01.014. Epub 2008 Mar 10.

PMID:
18329345
47.

Identification of the proteins, including MAGEG1, that make up the human SMC5-6 protein complex.

Taylor EM, Copsey AC, Hudson JJ, Vidot S, Lehmann AR.

Mol Cell Biol. 2008 Feb;28(4):1197-206. Epub 2007 Dec 17.

48.

Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts.

Arlett CF, Green MH, Rogers PB, Lehmann AR, Plowman PN.

Br J Radiol. 2008 Jan;81(961):51-8.

PMID:
18079351
49.

Translesion synthesis: Y-family polymerases and the polymerase switch.

Lehmann AR, Niimi A, Ogi T, Brown S, Sabbioneda S, Wing JF, Kannouche PL, Green CM.

DNA Repair (Amst). 2007 Jul 1;6(7):891-9. Epub 2007 Mar 23. Review.

PMID:
17363342
50.

New functions for Y family polymerases.

Lehmann AR.

Mol Cell. 2006 Nov 17;24(4):493-5. Review.

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