Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 100

1.

C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.

Richards A, van den Maagdenberg AM, Jen JC, Kavanagh D, Bertram P, Spitzer D, Liszewski MK, Barilla-Labarca ML, Terwindt GM, Kasai Y, McLellan M, Grand MG, Vanmolkot KR, de Vries B, Wan J, Kane MJ, Mamsa H, Schäfer R, Stam AH, Haan J, de Jong PT, Storimans CW, van Schooneveld MJ, Oosterhuis JA, Gschwendter A, Dichgans M, Kotschet KE, Hodgkinson S, Hardy TA, Delatycki MB, Hajj-Ali RA, Kothari PH, Nelson SF, Frants RR, Baloh RW, Ferrari MD, Atkinson JP.

Nat Genet. 2007 Sep;39(9):1068-70. Epub 2007 Jul 29.

PMID:
17660820
2.

Biochemical properties of mammalian TREX1 and its association with DNA replication and inherited inflammatory disease.

Lindahl T, Barnes DE, Yang YG, Robins P.

Biochem Soc Trans. 2009 Jun;37(Pt 3):535-8. doi: 10.1042/BST0370535.

PMID:
19442247
3.

TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy.

DiFrancesco JC, Novara F, Zuffardi O, Forlino A, Gioia R, Cossu F, Bolognesi M, Andreoni S, Saracchi E, Frigeni B, Stellato T, Tolnay M, Winkler DT, Remida P, Isimbaldi G, Ferrarese C.

Neurol Sci. 2015 Feb;36(2):323-30. doi: 10.1007/s10072-014-1944-9. Epub 2014 Sep 12.

PMID:
25213617
4.

Structure of the dimeric exonuclease TREX1 in complex with DNA displays a proline-rich binding site for WW Domains.

Brucet M, Querol-Audí J, Serra M, Ramirez-Espain X, Bertlik K, Ruiz L, Lloberas J, Macias MJ, Fita I, Celada A.

J Biol Chem. 2007 May 11;282(19):14547-57. Epub 2007 Mar 13.

5.

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

Lee-Kirsch MA, Gong M, Chowdhury D, Senenko L, Engel K, Lee YA, de Silva U, Bailey SL, Witte T, Vyse TJ, Kere J, Pfeiffer C, Harvey S, Wong A, Koskenmies S, Hummel O, Rohde K, Schmidt RE, Dominiczak AF, Gahr M, Hollis T, Perrino FW, Lieberman J, Hübner N.

Nat Genet. 2007 Sep;39(9):1065-7. Epub 2007 Jul 29.

PMID:
17660818
6.

New roles for the major human 3'-5' exonuclease TREX1 in human disease.

Kavanagh D, Spitzer D, Kothari PH, Shaikh A, Liszewski MK, Richards A, Atkinson JP.

Cell Cycle. 2008 Jun 15;7(12):1718-25. Epub 2008 Jun 16. Review.

7.

The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering.

de Silva U, Choudhury S, Bailey SL, Harvey S, Perrino FW, Hollis T.

J Biol Chem. 2007 Apr 6;282(14):10537-43. Epub 2007 Feb 9.

8.

Neuropathology and genetics of cerebroretinal vasculopathies.

Kolar GR, Kothari PH, Khanlou N, Jen JC, Schmidt RE, Vinters HV.

Brain Pathol. 2014 Sep;24(5):510-8. doi: 10.1111/bpa.12178. Review.

PMID:
25323666
9.

The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.

Lehtinen DA, Harvey S, Mulcahy MJ, Hollis T, Perrino FW.

J Biol Chem. 2008 Nov 14;283(46):31649-56. doi: 10.1074/jbc.M806155200. Epub 2008 Sep 18.

10.

A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.

Haaxma CA, Crow YJ, van Steensel MA, Lammens MM, Rice GI, Verbeek MM, Willemsen MA.

Am J Med Genet A. 2010 Oct;152A(10):2612-7. doi: 10.1002/ajmg.a.33620.

PMID:
20799324
11.

Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation.

Mateen FJ, Krecke K, Younge BR, Ford AL, Shaikh A, Kothari PH, Atkinson JP.

Neurology. 2010 Sep 28;75(13):1211-3. doi: 10.1212/WNL.0b013e3181f4d7ac. No abstract available.

12.
13.

Human DNA Exonuclease TREX1 Is Also an Exoribonuclease That Acts on Single-stranded RNA.

Yuan F, Dutta T, Wang L, Song L, Gu L, Qian L, Benitez A, Ning S, Malhotra A, Deutscher MP, Zhang Y.

J Biol Chem. 2015 May 22;290(21):13344-53. doi: 10.1074/jbc.M115.653915. Epub 2015 Apr 8.

14.

A 44-year-old man with eye, kidney, and brain dysfunction.

Vodopivec I, Oakley DH, Perugino CA, Venna N, Hedley-Whyte ET, Stone JH.

Ann Neurol. 2016 Apr;79(4):507-19. doi: 10.1002/ana.24583. Epub 2016 Mar 7.

15.

Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome.

Fye JM, Orebaugh CD, Coffin SR, Hollis T, Perrino FW.

J Biol Chem. 2011 Sep 16;286(37):32373-82. doi: 10.1074/jbc.M111.276287. Epub 2011 Aug 1.

16.

The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.

Orebaugh CD, Fye JM, Harvey S, Hollis T, Perrino FW.

J Biol Chem. 2011 Nov 18;286(46):40246-54. doi: 10.1074/jbc.M111.297903. Epub 2011 Sep 21.

17.

Structural and biochemical studies of TREX1 inhibition by metals. Identification of a new active histidine conserved in DEDDh exonucleases.

Brucet M, Querol-Audí J, Bertlik K, Lloberas J, Fita I, Celada A.

Protein Sci. 2008 Dec;17(12):2059-69. doi: 10.1110/ps.036426.108. Epub 2008 Sep 9.

18.

Human disease phenotypes associated with mutations in TREX1.

Rice GI, Rodero MP, Crow YJ.

J Clin Immunol. 2015 Apr;35(3):235-43. doi: 10.1007/s10875-015-0147-3. Epub 2015 Mar 4. Review.

PMID:
25731743
19.

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.

Rice G, Newman WG, Dean J, Patrick T, Parmar R, Flintoff K, Robins P, Harvey S, Hollis T, O'Hara A, Herrick AL, Bowden AP, Perrino FW, Lindahl T, Barnes DE, Crow YJ.

Am J Hum Genet. 2007 Apr;80(4):811-5. Epub 2007 Feb 19.

20.

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.

Nicot AS, Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, Iwarsson E, Kingston H, Garnier JM, Biancalana V, Oldfors A, Mandel JL, Laporte J.

Nat Genet. 2007 Sep;39(9):1134-9. Epub 2007 Aug 5.

PMID:
17676042

Supplemental Content

Support Center