Global ETD Search

A nationwide survey of Aicardi-Goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study

Abe, JunyaKyoto University2014

kyoto Repository record for A nationwide survey of Aicardi-Goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study (opens in a new tab)

Structural and Biochemical Examination of Aberrant dsDNA Metabolism in TREX1-associated Autoimmunity

Fye, JasonWake Forest University2013

… autoimmune phenotypes associated with familial chilblain lupus and Aicardi–Goutieres syndrome. The TREX1 dimer localizes to the perinuclear space and translocates to the nucleus to degrade genomic DNA during apoptosis. Accumulation of self–dsDNA antibodies accompanies dysfunctional …

wfu Repository record for Structural and Biochemical Examination of Aberrant dsDNA Metabolism in TREX1-associated Autoimmunity (opens in a new tab)

The TREX1 3' Exonuclease and Autoimmune Disease: Structural and Biochemical Analysis of Disease Mutants Involved in Autoimmune Dysfunction

Bailey, Suzanna LWake Forest University2010

… Aicardi-Goutières syndrome (AGS), familial chilblain lupus (FCL), systemic lupus erythematosus (SLE), and retinal vasculopathy and cerebral leukodystrophy (RVCL). Several cellular roles have been proposed for TREX1 including degradation of nicked genomic DNA during the granzyme A cell death …

wfu Repository record for The TREX1 3' Exonuclease and Autoimmune Disease: Structural and Biochemical Analysis of Disease Mutants Involved in Autoimmune Dysfunction (opens in a new tab)