Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability

Abstract Topoisomerase 3α (TOP3A) is an enzyme that removes torsional strain and interlinks between DNA molecules. TOP3A localises to both the nucleus and mitochondria, with the two isoforms playing specialised roles in DNA recombination and replication respectively. Pathogenic variants in TOP3A can...

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Main Authors: Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Genomics England Research Consortium, Joanna Poulton, Hector Garcia‐Moreno, Paola Giunti, Carlos A de Moura Aschoff, Jonas A Morales Saute, Amelia J Kirby, Camilo Toro, Lynne Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S Gorman, Andrew M Schaefer, Claes M Gustafsson, Robert W Taylor, Maria Falkenberg, Thomas J Nicholls
Format: Article
Language:English
Published: Springer Nature 2023-04-01
Series:EMBO Molecular Medicine
Subjects:
Bloom syndrome
mitochondrial disease
mtDNA
TOP3A
Online Access:https://doi.org/10.15252/emmm.202216775
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https://doi.org/10.15252/emmm.202216775

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