Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly

Autor: Patricia G. Wheeler, Henriette Aksnes, Thomas Arnesen, Hessa S. Alsaif, Kirsten Brønstad, Jennifer Morrison, Norah K. Altuwaijri, Mais Hashem, Anthony Evans, Bryn D. Webb, Fowzan S. Alkuraya

Publikováno v: Genetics in Medicine

N-terminal acetyltransferases modify proteins by adding an acetyl moiety to the first amino acid and are vital for protein and cell function. The NatB complex acetylates 20% of the human proteome and is composed of the catalytic subunit NAA20 and the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93d8fafc7c1012e0c66f06233c07e0da
http://europepmc.org/articles/PMC8553619

NatB-Mediated N-Terminal Acetylation Affects Growth and Biotic Stress Responses

Autor: Irmgard Sinning, Laura Armbruster, Carsten Sticht, Thierry Meinnel, Carmela Giglione, Dominik Layer, Markus Wirtz, Ruediger Hell, Willy V. Bienvenut, Iwona Stephan, Eric Linster, Monika Huber, Karine Lapouge

Publikováno v: Plant Physiology
Plant Physiology, American Society of Plant Biologists, 2020, 182 (2), pp.792-806. ⟨10.1104/pp.19.00792⟩
Plant Physiology, American Society of Plant Biologists, 2019, ⟨10.1104/pp.19.00792⟩
Plant Physiology, 2020, 182 (2), pp.792-806. ⟨10.1104/pp.19.00792⟩
Plant Physiol

International audience; N-terminal acetylation (NTA) is one of the most abundant protein modifications in eukaryotes. In humans, NTA is catalyzed by seven Nα-acetyltransferases (NatA-F and NatH). Remarkably, the plant Nat machinery and its biologica

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72ab585d2829f11577b7b08f634b133f
https://doi.org/10.1104/pp.19.00792

N-terminal acetylation promotes synaptonemal complex assembly in C. elegans

Autor: Jinmin Gao, Pan Zhang, Hyun-Min Kim, Vyacheslav M. Labunskyy, Enrique Martinez-Perez, Maxim V. Gerashchenko, Meng-Qiu Dong, Shangtong Li, Consuelo Barroso, James W. Lightfoot, Leticia Labrador, Monica P. Colaiácovo

Publikováno v: Genes and Development

N-terminal acetylation of the first two amino acids on proteins is a prevalent cotranslational modification. Despite its abundance, the biological processes associated with this modification are not well understood. Here, we mapped the pattern of pro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6aa6a7b9a6d8e940c89960aa19fe382e
https://doi.org/10.1101/gad.277350.116

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Mdm20 protein functions with Nat3 protein to acetylate Tpm1 protein and regulate tropomyosin–actin interactions in budding yeast

Autor: Janet M. Shaw, Jason Singer

Publikováno v: Proceedings of the National Academy of Sciences. 100:7644-7649

The evolutionarily conserved Mdm20 protein (Mdm20p) plays an important role in tropomyosin–F-actin interactions that generate actin filaments and cables in budding yeast. However, Mdm20p is not a structural component of actin filaments or cables, a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd28936fc328ad4e2819884a3e1491a8
https://doi.org/10.1073/pnas.1232343100