POLRMT mutations impair mitochondrial transcription causing neurological disease

POLRMT is key for transcription of the mitochondrial genome, yet has not been implicated in mitochondrial disease to date. Here, the authors identify mutations in POLRMT in individuals with mitochondrial disease-related phenotypes and characterise underlying defects in mitochondrial transcription.

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Autores principales:	Monika Oláhová, Bradley Peter, Zsolt Szilagyi, Hector Diaz-Maldonado, Meenakshi Singh, Ewen W. Sommerville, Emma L. Blakely, Jack J. Collier, Emily Hoberg, Viktor Stránecký, Hana Hartmannová, Anthony J. Bleyer, Kim L. McBride, Sasigarn A. Bowden, Zuzana Korandová, Alena Pecinová, Hans-Hilger Ropers, Kimia Kahrizi, Hossein Najmabadi, Mark A. Tarnopolsky, Lauren I. Brady, K. Nicole Weaver, Carlos E. Prada, Katrin Õunap, Monica H. Wojcik, Sander Pajusalu, Safoora B. Syeda, Lynn Pais, Elicia A. Estrella, Christine C. Bruels, Louis M. Kunkel, Peter B. Kang, Penelope E. Bonnen, Tomáš Mráček, Stanislav Kmoch, Gráinne S. Gorman, Maria Falkenberg, Claes M. Gustafsson, Robert W. Taylor
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/35895711cd76476484b7067a5177046a
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spelling	oai:doaj.org-article:35895711cd76476484b7067a5177046a2021-12-02T14:21:20ZPOLRMT mutations impair mitochondrial transcription causing neurological disease10.1038/s41467-021-21279-02041-1723https://doaj.org/article/35895711cd76476484b7067a5177046a2021-02-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-21279-0https://doaj.org/toc/2041-1723POLRMT is key for transcription of the mitochondrial genome, yet has not been implicated in mitochondrial disease to date. Here, the authors identify mutations in POLRMT in individuals with mitochondrial disease-related phenotypes and characterise underlying defects in mitochondrial transcription.Monika OláhováBradley PeterZsolt SzilagyiHector Diaz-MaldonadoMeenakshi SinghEwen W. SommervilleEmma L. BlakelyJack J. CollierEmily HobergViktor StráneckýHana HartmannováAnthony J. BleyerKim L. McBrideSasigarn A. BowdenZuzana KorandováAlena PecinováHans-Hilger RopersKimia KahriziHossein NajmabadiMark A. TarnopolskyLauren I. BradyK. Nicole WeaverCarlos E. PradaKatrin ÕunapMonica H. WojcikSander PajusaluSafoora B. SyedaLynn PaisElicia A. EstrellaChristine C. BruelsLouis M. KunkelPeter B. KangPenelope E. BonnenTomáš MráčekStanislav KmochGráinne S. GormanMaria FalkenbergClaes M. GustafssonRobert W. TaylorNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Monika Oláhová Bradley Peter Zsolt Szilagyi Hector Diaz-Maldonado Meenakshi Singh Ewen W. Sommerville Emma L. Blakely Jack J. Collier Emily Hoberg Viktor Stránecký Hana Hartmannová Anthony J. Bleyer Kim L. McBride Sasigarn A. Bowden Zuzana Korandová Alena Pecinová Hans-Hilger Ropers Kimia Kahrizi Hossein Najmabadi Mark A. Tarnopolsky Lauren I. Brady K. Nicole Weaver Carlos E. Prada Katrin Õunap Monica H. Wojcik Sander Pajusalu Safoora B. Syeda Lynn Pais Elicia A. Estrella Christine C. Bruels Louis M. Kunkel Peter B. Kang Penelope E. Bonnen Tomáš Mráček Stanislav Kmoch Gráinne S. Gorman Maria Falkenberg Claes M. Gustafsson Robert W. Taylor POLRMT mutations impair mitochondrial transcription causing neurological disease
description	POLRMT is key for transcription of the mitochondrial genome, yet has not been implicated in mitochondrial disease to date. Here, the authors identify mutations in POLRMT in individuals with mitochondrial disease-related phenotypes and characterise underlying defects in mitochondrial transcription.
format	article
author	Monika Oláhová Bradley Peter Zsolt Szilagyi Hector Diaz-Maldonado Meenakshi Singh Ewen W. Sommerville Emma L. Blakely Jack J. Collier Emily Hoberg Viktor Stránecký Hana Hartmannová Anthony J. Bleyer Kim L. McBride Sasigarn A. Bowden Zuzana Korandová Alena Pecinová Hans-Hilger Ropers Kimia Kahrizi Hossein Najmabadi Mark A. Tarnopolsky Lauren I. Brady K. Nicole Weaver Carlos E. Prada Katrin Õunap Monica H. Wojcik Sander Pajusalu Safoora B. Syeda Lynn Pais Elicia A. Estrella Christine C. Bruels Louis M. Kunkel Peter B. Kang Penelope E. Bonnen Tomáš Mráček Stanislav Kmoch Gráinne S. Gorman Maria Falkenberg Claes M. Gustafsson Robert W. Taylor
author_facet	Monika Oláhová Bradley Peter Zsolt Szilagyi Hector Diaz-Maldonado Meenakshi Singh Ewen W. Sommerville Emma L. Blakely Jack J. Collier Emily Hoberg Viktor Stránecký Hana Hartmannová Anthony J. Bleyer Kim L. McBride Sasigarn A. Bowden Zuzana Korandová Alena Pecinová Hans-Hilger Ropers Kimia Kahrizi Hossein Najmabadi Mark A. Tarnopolsky Lauren I. Brady K. Nicole Weaver Carlos E. Prada Katrin Õunap Monica H. Wojcik Sander Pajusalu Safoora B. Syeda Lynn Pais Elicia A. Estrella Christine C. Bruels Louis M. Kunkel Peter B. Kang Penelope E. Bonnen Tomáš Mráček Stanislav Kmoch Gráinne S. Gorman Maria Falkenberg Claes M. Gustafsson Robert W. Taylor
author_sort	Monika Oláhová
title	POLRMT mutations impair mitochondrial transcription causing neurological disease
title_short	POLRMT mutations impair mitochondrial transcription causing neurological disease
title_full	POLRMT mutations impair mitochondrial transcription causing neurological disease
title_fullStr	POLRMT mutations impair mitochondrial transcription causing neurological disease
title_full_unstemmed	POLRMT mutations impair mitochondrial transcription causing neurological disease
title_sort	polrmt mutations impair mitochondrial transcription causing neurological disease
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/35895711cd76476484b7067a5177046a
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POLRMT mutations impair mitochondrial transcription causing neurological disease

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