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| http://dx.doi.org/10.1186/s42466-022-00195-8 | DOI Listing |
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Ancestral allele of DNA polymerase gamma modifies antiviral tolerance.
Nature
April 2024
Stem Cell and Metabolism Research Program Unit, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Mitochondria are critical modulators of antiviral tolerance through the release of mitochondrial RNA and DNA (mtDNA and mtRNA) fragments into the cytoplasm after infection, activating virus sensors and type-I interferon (IFN-I) response. The relevance of these mechanisms for mitochondrial diseases remains understudied. Here we investigated mitochondrial recessive ataxia syndrome (MIRAS), which is caused by a common European founder mutation in DNA polymerase gamma (POLG1).
View Article and Find Full Text PDFCaution When Using Valproate for Seizures in POLG1 Carriers.
Ann Indian Acad Neurol
April 2023
Neurology and Neurophysiology Center, Vienna, Austria.
Clinico-Genetic Spectrum of POLG1 Mutation Carriers from India.
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Klinik Landstrasse, Messerli Institute, Vienna, Austria.
A response to Letter to the Editor titled: Valproic acid for myoclonic epilepsy in POLG1 carriers can be fatal.
Folia Neuropathol
November 2021
Department of Forensic Medicine, Medical University of Warsaw, Warsaw, Poland.
Dear Dr. Josef Finsterer, Thank you for your careful and thorough reading of our article and for the valuable comments. We agree that valproic acid is harmful in the mitochondrial disease and we want to add that the described case is currently being prosecuted as medical malpractice.
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