TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
Van Haute et al describe autosomal recessive TEFM variants that impair mitochondrial transcription elongation and reduce the levels of promoter distal mitochondrial RNA transcripts, leading to heterogeneous mitochondrial diseases with a treatable neuromuscular transmission defect.
| Published in: | Nature Communications |
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2023-02-01
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| Online Access: | https://doi.org/10.1038/s41467-023-36277-7 |
| _version_ | 1851860932301422592 |
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| author | Lindsey Van Haute Emily O’Connor Héctor Díaz-Maldonado Benjamin Munro Kiran Polavarapu Daniella H. Hock Gautham Arunachal Alkyoni Athanasiou-Fragkouli Mainak Bardhan Magalie Barth Dominique Bonneau Nicola Brunetti-Pierri Gerarda Cappuccio Nikeisha J. Caruana Natalia Dominik Himanshu Goel Guy Helman Henry Houlden Guy Lenaers Karine Mention David Murphy Bevinahalli Nandeesh Catarina Olimpio Christopher A. Powell Veeramani Preethish-Kumar Vincent Procaccio Rocio Rius Pedro Rebelo-Guiomar Cas Simons Seena Vengalil Maha S. Zaki Alban Ziegler David R. Thorburn David A. Stroud Reza Maroofian John Christodoulou Claes Gustafsson Atchayaram Nalini Hanns Lochmüller Michal Minczuk Rita Horvath |
| author_facet | Lindsey Van Haute Emily O’Connor Héctor Díaz-Maldonado Benjamin Munro Kiran Polavarapu Daniella H. Hock Gautham Arunachal Alkyoni Athanasiou-Fragkouli Mainak Bardhan Magalie Barth Dominique Bonneau Nicola Brunetti-Pierri Gerarda Cappuccio Nikeisha J. Caruana Natalia Dominik Himanshu Goel Guy Helman Henry Houlden Guy Lenaers Karine Mention David Murphy Bevinahalli Nandeesh Catarina Olimpio Christopher A. Powell Veeramani Preethish-Kumar Vincent Procaccio Rocio Rius Pedro Rebelo-Guiomar Cas Simons Seena Vengalil Maha S. Zaki Alban Ziegler David R. Thorburn David A. Stroud Reza Maroofian John Christodoulou Claes Gustafsson Atchayaram Nalini Hanns Lochmüller Michal Minczuk Rita Horvath |
| author_sort | Lindsey Van Haute |
| collection | DOAJ |
| container_title | Nature Communications |
| description | Van Haute et al describe autosomal recessive TEFM variants that impair mitochondrial transcription elongation and reduce the levels of promoter distal mitochondrial RNA transcripts, leading to heterogeneous mitochondrial diseases with a treatable neuromuscular transmission defect. |
| format | Article |
| id | doaj-art-cd5cc9ecdd2c4821a6750da1e26f46ce |
| institution | Directory of Open Access Journals |
| issn | 2041-1723 |
| language | English |
| publishDate | 2023-02-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| spelling | doaj-art-cd5cc9ecdd2c4821a6750da1e26f46ce2025-08-19T22:20:39ZengNature PortfolioNature Communications2041-17232023-02-0114112110.1038/s41467-023-36277-7TEFM variants impair mitochondrial transcription causing childhood-onset neurological diseaseLindsey Van Haute0Emily O’Connor1Héctor Díaz-Maldonado2Benjamin Munro3Kiran Polavarapu4Daniella H. Hock5Gautham Arunachal6Alkyoni Athanasiou-Fragkouli7Mainak Bardhan8Magalie Barth9Dominique Bonneau10Nicola Brunetti-Pierri11Gerarda Cappuccio12Nikeisha J. Caruana13Natalia Dominik14Himanshu Goel15Guy Helman16Henry Houlden17Guy Lenaers18Karine Mention19David Murphy20Bevinahalli Nandeesh21Catarina Olimpio22Christopher A. Powell23Veeramani Preethish-Kumar24Vincent Procaccio25Rocio Rius26Pedro Rebelo-Guiomar27Cas Simons28Seena Vengalil29Maha S. Zaki30Alban Ziegler31David R. Thorburn32David A. Stroud33Reza Maroofian34John Christodoulou35Claes Gustafsson36Atchayaram Nalini37Hanns Lochmüller38Michal Minczuk39Rita Horvath40MRC Mitochondrial Biology Unit, University of CambridgeChildren’s Hospital of Eastern Ontario Research Institute, University of OttawaDepartment of Biochemistry and Cell Biology, University of GothenburgDepartment of Clinical Neurosciences, School of Clinical Medicine, University of CambridgeChildren’s Hospital of Eastern Ontario Research Institute, University of OttawaDepartment of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of MelbourneDepartment of Human genetics, National Institute of Mental Health and NeurosciencesUCL London, Department of Neuromuscular Disorders, Institute of Neurology, University College LondonDepartment of Neurology, National Institute of Mental Health and NeurosciencesDepartment of Genetics, Mitovasc INSERM 1083, CNRS 6015, University Hospital of AngersDepartment of Genetics, Mitovasc INSERM 1083, CNRS 6015, University Hospital of AngersDepartment of Translational Medicine, University of Naples Federico IIDepartment of Translational Medicine, University of Naples Federico IIDepartment of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of MelbourneUCL London, Department of Neuromuscular Disorders, Institute of Neurology, University College LondonHunter Genetics, Waratah, University of NewcastleMurdoch Children’s Research InstituteUCL London, Department of Neuromuscular Disorders, Institute of Neurology, University College LondonDepartment of Genetics, Mitovasc INSERM 1083, CNRS 6015, University Hospital of AngersPediatric Inherited Metabolic Disorders, Hôpital Jeanne de FlandreUCL London, Department of Neuromuscular Disorders, Institute of Neurology, University College LondonDepartment of Neurology, National Institute of Mental Health and NeurosciencesDepartment of Clinical Neurosciences, School of Clinical Medicine, University of CambridgeMRC Mitochondrial Biology Unit, University of CambridgeDepartment of Neurology, National Institute of Mental Health and NeurosciencesDepartment of Genetics, Mitovasc INSERM 1083, CNRS 6015, University Hospital of AngersMurdoch Children’s Research InstituteMRC Mitochondrial Biology Unit, University of CambridgeMurdoch Children’s Research InstituteDepartment of Neurology, National Institute of Mental Health and NeurosciencesClinical Genetics Department, Human Genetics and Genome Research Division, National Research CentreDepartment of Genetics, Mitovasc INSERM 1083, CNRS 6015, University Hospital of AngersMurdoch Children’s Research InstituteDepartment of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of MelbourneUCL London, Department of Neuromuscular Disorders, Institute of Neurology, University College LondonMurdoch Children’s Research InstituteDepartment of Biochemistry and Cell Biology, University of GothenburgDepartment of Neurology, National Institute of Mental Health and NeurosciencesChildren’s Hospital of Eastern Ontario Research Institute, University of OttawaMRC Mitochondrial Biology Unit, University of CambridgeDepartment of Clinical Neurosciences, School of Clinical Medicine, University of CambridgeVan Haute et al describe autosomal recessive TEFM variants that impair mitochondrial transcription elongation and reduce the levels of promoter distal mitochondrial RNA transcripts, leading to heterogeneous mitochondrial diseases with a treatable neuromuscular transmission defect.https://doi.org/10.1038/s41467-023-36277-7 |
| spellingShingle | Lindsey Van Haute Emily O’Connor Héctor Díaz-Maldonado Benjamin Munro Kiran Polavarapu Daniella H. Hock Gautham Arunachal Alkyoni Athanasiou-Fragkouli Mainak Bardhan Magalie Barth Dominique Bonneau Nicola Brunetti-Pierri Gerarda Cappuccio Nikeisha J. Caruana Natalia Dominik Himanshu Goel Guy Helman Henry Houlden Guy Lenaers Karine Mention David Murphy Bevinahalli Nandeesh Catarina Olimpio Christopher A. Powell Veeramani Preethish-Kumar Vincent Procaccio Rocio Rius Pedro Rebelo-Guiomar Cas Simons Seena Vengalil Maha S. Zaki Alban Ziegler David R. Thorburn David A. Stroud Reza Maroofian John Christodoulou Claes Gustafsson Atchayaram Nalini Hanns Lochmüller Michal Minczuk Rita Horvath TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease |
| title | TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease |
| title_full | TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease |
| title_fullStr | TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease |
| title_full_unstemmed | TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease |
| title_short | TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease |
| title_sort | tefm variants impair mitochondrial transcription causing childhood onset neurological disease |
| url | https://doi.org/10.1038/s41467-023-36277-7 |
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