TY  -  
T1  - Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A 
SN  -  /  
UR  - http://hdl.handle.net/10138/336598 
T3  -  
A1  - Lepelley, Alice; Della Mina, Erika; Van Nieuwenhove, Erika; Waumans, Lise; Fraitag, Sylvie; Rice, Gillian I.; Dhir, Ashish; Fremond, Marie-Louise; Rodero, Mathieu P.; Seabra, Luis; Carter, Edwin; Bodemer, Christine; Buhas, Daniela; Callewaert, Bert; de Lonlay, Pascale; De Somer, Lien; Dyment, David A.; Faes, Fran; Grove, Lucy; Holden, Simon; Hully, Marie; Kurian, Manju A.; McMillan, Hugh J.; Suetens, Kristin; Tyynismaa, Henna; Chhun, Stephanie; Wai, Timothy; Wouters, Carine; Bader-Meunier, Brigitte; Crow, Yanick J. 
A2  -  
PB  -  
Y1  - 2021 
LA  - eng 
AB  - Mitochondrial DNA (mtDNA) has been suggested to drive immune system activation, but the induction of interferon signaling by mtDNA has not been demonstrated in a Mendelian mitochondrial disease. We initially ascertained two patients, one with a purely neurological phenotype and one with features suggestive of systemic sclerosis in a syndromic context, and found them both to demonstrate enhanced interferon-stimulated gene (ISG) expression in blood. We determined each to harbor a previously descri... 
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KW  - RECURRENT DE-NOVO; AICARDI-GOUTIERES SYNDROME; MITOCHONDRIAL-DNA; I INTERFERON; MEMBRANE-PROTEIN; RNASEH2B; DUPLICATIONS; CHOLESTEROL; DYSFUNCTION; INDUCTION; 3111 Biomedicine 
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