POLRMT mutations impair mitochondrial transcription causing neurological disease
POLRMT mutations impair mitochondrial transcription causing neurological disease
About this item
Full title
Author / Creator
Oláhová, Monika , Peter, Bradley , Szilagyi, Zsolt , Diaz-Maldonado, Hector , Singh, Meenakshi , Sommerville, Ewen W. , Blakely, Emma L. , Collier, Jack J. , Hoberg, Emily , Stránecký, Viktor , Hartmannová, Hana , Bleyer, Anthony J. , McBride, Kim L. , Bowden, Sasigarn A. , Korandová, Zuzana , Pecinová, Alena , Ropers, Hans-Hilger , Kahrizi, Kimia , Najmabadi, Hossein , Tarnopolsky, Mark A. , Brady, Lauren I. , Weaver, K. Nicole , Prada, Carlos E. , Õunap, Katrin , Wojcik, Monica H. , Pajusalu, Sander , Syeda, Safoora B. , Pais, Lynn , Estrella, Elicia A. , Bruels, Christine C. , Kunkel, Louis M. , Kang, Peter B. , Bonnen, Penelope E. , Mráček, Tomáš , Kmoch, Stanislav , Gorman, Gráinne S. , Falkenberg, Maria , Gustafsson, Claes M. and Taylor, Robert W.
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
While >300 disease-causing variants have been identified in the mitochondrial DNA (mtDNA) polymerase γ, no mitochondrial phenotypes have been associated with POLRMT, the RNA polymerase responsible for transcription of the mitochondrial genome. Here, we characterise the clinical and molecular nature of
POLRMT
variants in eight individuals from...
Alternative Titles
Full title
POLRMT mutations impair mitochondrial transcription causing neurological disease
Authors, Artists and Contributors
Author / Creator
Peter, Bradley
Szilagyi, Zsolt
Diaz-Maldonado, Hector
Singh, Meenakshi
Sommerville, Ewen W.
Blakely, Emma L.
Collier, Jack J.
Hoberg, Emily
Stránecký, Viktor
Hartmannová, Hana
Bleyer, Anthony J.
McBride, Kim L.
Bowden, Sasigarn A.
Korandová, Zuzana
Pecinová, Alena
Ropers, Hans-Hilger
Kahrizi, Kimia
Najmabadi, Hossein
Tarnopolsky, Mark A.
Brady, Lauren I.
Weaver, K. Nicole
Prada, Carlos E.
Õunap, Katrin
Wojcik, Monica H.
Pajusalu, Sander
Syeda, Safoora B.
Pais, Lynn
Estrella, Elicia A.
Bruels, Christine C.
Kunkel, Louis M.
Kang, Peter B.
Bonnen, Penelope E.
Mráček, Tomáš
Kmoch, Stanislav
Gorman, Gráinne S.
Falkenberg, Maria
Gustafsson, Claes M.
Taylor, Robert W.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_35895711cd76476484b7067a5177046a
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_35895711cd76476484b7067a5177046a
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-021-21279-0
