Blar i Bergen Open Research Archive på forfatter "Myklebust, Line Merethe"
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Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects
Myklebust, Line Merethe; Van Damme, Petra; Støve, Svein Isungset; Dörfel, Max J; Abboud, Angèle; Kalvik, Thomas Vikestad; Grauffel, Cédric; Jonckheere, Veronique; Wu, Yiyang; Swensen, Jeffrey; Kaasa, Hanna; Liszczak, Glen; Marmorstein, Ronen; Reuter, Nathalie; Lyon, Gholson J; Gevaert, Kris; Arnesen, Thomas (Peer reviewed; Journal article, 2014-12-03)The X-linked lethal Ogden syndrome was the first reported human genetic disorder associated with a mutation in an N-terminal acetyltransferase (NAT) gene. The affected males harbor an Ser37Pro (S37P) mutation in the gene ... -
Downregulation of N-terminal acetylation triggers ABA-mediated drought responses in Arabidopsis
Linster, Eric; Stephan, Iwona; Bienvenut, Willy V.; Maple-Grødem, Jodi; Myklebust, Line Merethe; Huber, Monika; Reichelt, Michael; Sticht, Carsten; Møller, Simon Geir; Meinnel, Thierry; Arnesen, Thomas; Giglione, Carmela; Hell, Rüdiger; Wirtz, Markus (Peer reviewed; Journal article, 2015-07-17)N-terminal acetylation (NTA) catalysed by N-terminal acetyltransferases (Nats) is among the most common protein modifications in eukaryotes, but its significance is still enigmatic. Here we characterize the plant NatA ... -
Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro
Velasco Pinto, Kelly; St-Louis, Johanna; Hovland, Henrikke N.; Thompson, Nels; Ottesen, Åsta; Choi, Man Hung; Pedersen, Line; Njølstad, Pål Rasmus; Arnesen, Thomas; Fjeld, Karianne; Aukrust, Ingvild; Myklebust, Line Merethe; Molven, Anders (Journal article; Peer reviewed, 2021)Short‐chain 3‐hydroxyacyl‐CoA dehydrogenase (SCHAD), encoded by the HADH gene, is a ubiquitously expressed mitochondrial enzyme involved in fatty acid oxidation. This protein also plays a role in insulin secretion as ... -
The N-terminal acetyltransferase Naa10 is essential for zebrafish development
Ree, Rasmus Moen; Myklebust, Line Merethe; Thiel, Puja; Foyn, Håvard; Fladmark, Kari Espolin; Arnesen, Thomas (Peer reviewed; Journal article, 2015-08-06)N-terminal acetylation, catalysed by N-terminal acetyltransferases (NATs), is among the most common protein modifications in eukaryotes and involves the transfer of an acetyl group from acetyl-CoA to the α-amino group of ... -
NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant - a case report
Mc Tiernan, Nina; Støve, Svein Isungset; Aukrust, Ingvild; Mårli, Marita Torrissen; Myklebust, Line Merethe; Houge, Gunnar; Arnesen, Thomas (Peer reviewed; Journal article, 2018)Background: The NAA10-NAA15 (NatA) protein complex is an N-terminal acetyltransferase responsible for acetylating ~ 40% of eukaryotic proteins. In recent years, NAA10 variants have been found in patients with an X-linked ... -
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females
Popp, Bernt; Støve, Svein Isungset; Endele, Sabine; Myklebust, Line Merethe; Hoyer, Juliane; Sticht, Heinrich; Azzarello-Burri, Silvia; Rauch, Anita; Arnesen, Thomas; Reis, André (Peer reviewed; Journal article, 2015)Recent studies revealed the power of whole-exome sequencing to identify mutations in sporadic cases with non-syndromic intellectual disability. We now identified de novo missense variants in NAA10 in two unrelated individuals, ... -
Optimized bisubstrate inhibitors for the actin N-terminal acetyltransferase NAA80
Myklebust, Line Merethe; Baumann, Markus; Støve, Svein Isungset; Foyn, Håvard; Arnesen, Thomas; Haug, Bengt Erik (Journal article; Peer reviewed, 2023)Acetylation of protein N-termini is one of the most common protein modifications in the eukaryotic cell and is catalyzed by the N-terminal acetyltransferase family of enzymes. The N-terminal acetyltransferase NAA80 is ... -
Receptor for activated C-kinase (RACK1) plays a central role in Ras-mediated signal transduction
Lillehaug, Johan; Myklebust, Line Merethe; Raae, Arnt Johan; Bjørndal, Bodil (Conference lecture, 2010-09-24)