Article
Mice lacking the mitochondrial exonuclease MGME1 develop inflammatory kidney disease with glomerular dysfunction.
PLoS genetics - 1 May 2022
Milenkovic Dusanka, Sanz-Moreno Adrián, Calzada-Wack Julia, Rathkolb Birgit, Veronica Amarie Oana, Gerlini Raffaele, Aguilar-Pimentel Antonio, Misic Jelena, Simard Marie-Lune, Wolf Eckhard, Fuchs Helmut, Gailus-Durner Valerie, de Angelis Martin Hrabě, Larsson Nils-Göran
Abstract excerpt
Mitochondrial DNA (mtDNA) maintenance disorders are caused by mutations in ubiquitously expressed nuclear genes and lead to syndromes with variable disease severity and tissue-specific phenotypes. Loss of function mutations in the gene encoding the mitochondrial genome and maintenance exonuclease 1 (MGME1) result in deletions and depletion of mtDNA leading to adult-onset multisystem mitochondrial disease in...
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