Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
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DOI: 10.1038/s41467-024-46354-0
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- Monkol Lek & Konrad J. Karczewski & Eric V. Minikel & Kaitlin E. Samocha & Eric Banks & Timothy Fennell & Anne H. O’Donnell-Luria & James S. Ware & Andrew J. Hill & Beryl B. Cummings & Taru Tukiainen , 2016. "Analysis of protein-coding genetic variation in 60,706 humans," Nature, Nature, vol. 536(7616), pages 285-291, August.
- Eric Linster & Francy L. Forero Ruiz & Pavlina Miklankova & Thomas Ruppert & Johannes Mueller & Laura Armbruster & Xiaodi Gong & Giovanna Serino & Matthias Mann & Rüdiger Hell & Markus Wirtz, 2022. "Cotranslational N-degron masking by acetylation promotes proteome stability in plants," Nature Communications, Nature, vol. 13(1), pages 1-12, December.
- Mathieu Quinodoz & Virginie G. Peter & Nicola Bedoni & Béryl Royer Bertrand & Katarina Cisarova & Arash Salmaninejad & Neda Sepahi & Raquel Rodrigues & Mehran Piran & Majid Mojarrad & Alireza Pasdar &, 2021. "AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data," Nature Communications, Nature, vol. 12(1), pages 1-7, December.
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- Nina McTiernan & Ine Kjosås & Thomas Arnesen, 2025. "Illuminating the impact of N-terminal acetylation: from protein to physiology," Nature Communications, Nature, vol. 16(1), pages 1-15, December.
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