Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome

GJ Lyon, M Vedaie, T Beisheim, A Park… - European Journal of …, 2023 - nature.com
Abstract Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting
80% of cytosolic proteins in humans. The human essential gene, NAA10, encodes for the …

N-α-acetyltransferase 10 (NAA10) in development: The role of NAA10

MN Lee, HY Kweon, GT Oh - Experimental & Molecular Medicine, 2018 - nature.com
Abstract N-α-acetyltransferase 10 (NAA10) is a subunit of Nα-terminal protein
acetyltransferase that plays a role in many biological processes. Among the six N-α …

Truncating variants in NAA15 are associated with variable levels of intellectual disability, autism spectrum disorder, and congenital anomalies

H Cheng, AV Dharmadhikari, S Varland, N Ma… - The American Journal of …, 2018 - cell.com
N-alpha-acetylation is a common co-translational protein modification that is essential for
normal cell function in humans. We previously identified the genetic basis of an X-linked …

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

H Cheng, L Gottlieb, E Marchi, R Kleyner… - Human Molecular …, 2019 - academic.oup.com
N-alpha-acetylation is one of the most common co-translational protein modifications in
humans and is essential for normal cell function. NAA10 encodes for the enzyme NAA10 …

Nα-terminal acetylation of proteins by NatA and NatB serves distinct physiological roles in Saccharomyces cerevisiae

UA Friedrich, M Zedan, B Hessling, K Fenzl, L Gillet… - Cell reports, 2021 - cell.com
N-terminal (Nt) acetylation is a highly prevalent co-translational protein modification in
eukaryotes, catalyzed by at least five Nt acetyltransferases (Nats) with differing specificities …

Loss of N-terminal acetyltransferase A activity induces thermally unstable ribosomal proteins and increases their turnover in Saccharomyces cerevisiae

UH Guzman, H Aksnes, R Ree, N Krogh… - Nature …, 2023 - nature.com
Protein N-terminal (Nt) acetylation is one of the most abundant modifications in eukaryotes,
covering~ 50-80% of the proteome, depending on species. Cells with defective Nt …

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

J Morrison, NK Altuwaijri, K Brønstad, H Aksnes… - Genetics in …, 2021 - nature.com
Purpose 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 …

Loss of N-terminal acetyltransferase A activity induces thermally unstable ribosomal proteins and increases their turnover

UH Guzman, H Aksnes, R Ree, N Krogh… - bioRxiv, 2022 - biorxiv.org
Protein N-terminal (Nt) acetylation is one of the most abundant modifications in eukaryotes,
covering∼ 50-80% of the proteome, depending on species. Cells with defective Nt …

Human NAA30 can rescue yeast mak3∆ mutant growth phenotypes

A Drazic, S Varland - Bioscience Reports, 2021 - portlandpress.com
N-terminal acetylation is an irreversible protein modification that primarily occurs co-
translationally, and is catalyzed by a highly conserved family of N-terminal …

Naa12 compensates for Naa10 in mice in the amino-terminal acetylation pathway

HY Kweon, MN Lee, M Dorfel, S Seo, L Gottlieb… - Elife, 2021 - elifesciences.org
Amino-terminal acetylation is catalyzed by a set of N-terminal acetyltransferases (NATs). The
NatA complex (including X-linked Naa10 and Naa15) is the major acetyltransferase, with 40 …