Article
Predominant cellular mitochondrial dysfunction in the TOP3A gene-caused Bloom syndrome-like disorder.
Biochimica et biophysica acta. Molecular basis of disease - 1 Jun 2021
Jiang Wenjun, Jia Nan, Guo Chaowan, Wen Juan, Wu Lingqian, Ogi Tomoo, Zhang Huiwen
Abstract excerpt
TOP3A promotes processing of double Holliday junction dissolution and also plays an important role in decatenation and segregation of human mtDNA. Recently, TOP3A mutations have been reported to cause Bloom syndrome-like disorder. However, whether the two function play equal roles in the disease pathogenesis is unclear. We retrospectively studied the disease progression of two siblings with Bloom-like syndrome...
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