Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stabilit...
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability
About this item
Full title
Author / Creator
Genomics England Research Consortium , Erdinc, Direnis , Rodríguez‐Luis, Alejandro , Fassad, Mahmoud R , Mackenzie, Sarah , Watson, Christopher M , Valenzuela, Sebastian , Xie, Xie , Menger, Katja E , Sergeant, Kate , Craig, Kate , Hopton, Sila , Falkous, Gavin , Poulton, Joanna , Garcia‐Moreno, Hector , Giunti, Paola , de Moura Aschoff, Carlos A , Morales Saute, Jonas A , Kirby, Amelia J , Toro, Camilo , Wolfe, Lynne , Novacic, Danica , Greenbaum, Lior , Eliyahu, Aviva , Barel, Ortal , Anikster, Yair , McFarland, Robert , Gorman, Gráinne S , Schaefer, Andrew M , Gustafsson, Claes M , Taylor, Robert W , Falkenberg, Maria and Nicholls, Thomas J
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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 cause a disorder similar to Bloom syndrome, which re...
Alternative Titles
Full title
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability
Authors, Artists and Contributors
Author / Creator
Erdinc, Direnis
Rodríguez‐Luis, Alejandro
Fassad, Mahmoud R
Mackenzie, Sarah
Watson, Christopher M
Valenzuela, Sebastian
Xie, Xie
Menger, Katja E
Sergeant, Kate
Craig, Kate
Hopton, Sila
Falkous, Gavin
Poulton, Joanna
Garcia‐Moreno, Hector
Giunti, Paola
de Moura Aschoff, Carlos A
Morales Saute, Jonas A
Kirby, Amelia J
Toro, Camilo
Wolfe, Lynne
Novacic, Danica
Greenbaum, Lior
Eliyahu, Aviva
Barel, Ortal
Anikster, Yair
McFarland, Robert
Gorman, Gráinne S
Schaefer, Andrew M
Gustafsson, Claes M
Taylor, Robert W
Falkenberg, Maria
Nicholls, Thomas J
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_c9e7e4ced0784d4394725c67d2a116f4
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c9e7e4ced0784d4394725c67d2a116f4
Other Identifiers
ISSN
1757-4676
E-ISSN
1757-4684
DOI
10.15252/emmm.202216775
