NAA10 p.(D10G) and NAA10 p.(L11R) Variants Hamper Formation of the NatA N-Terminal Acetyltransferase Complex

od McTiernan, Nina, Darbakk, Christine, Ree, Rasmus, Arnesen, Thomas
izdano v Int J Mol Sci (2020)

Molecular basis for N-terminal acetylation by human NatE and its modulation by HYPK

od Deng, Sunbin, McTiernan, Nina, Wei, Xuepeng, Arnesen, Thomas, Marmorstein, Ronen
izdano v Nat Commun (2020)

NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy

od McTiernan, Nina, Gill, Harinder, Prada, Carlos E., Pachajoa, Harry, Lores, Juliana, Arnesen, Thomas
izdano v Eur J Hum Genet (2020)

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

od McTiernan, Nina, Støve, Svein Isungset, Aukrust, Ingvild, Mårli, Marita Torrisen, Myklebust, Line M., Houge, Gunnar, Arnesen, Thomas
izdano v BMC Med Genet (2018)

Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report

od Bader, Ingrid, McTiernan, Nina, Darbakk, Christine, Boltshauser, Eugen, Ree, Rasmus, Ebner, Sabine, Mayr, Johannes A., Arnesen, Thomas
izdano v BMC Med Genet (2020)

A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy

od Støve, Svein Isungset, Blenski, Marina, Stray-Pedersen, Asbjørg, Wierenga, Klaas J., Jhangiani, Shalini N., Akdemir, Zeynep Coban, Crawford, David, McTiernan, Nina, Myklebust, Line M., Purcarin, Gabriela, McNall-Knapp, Rene, Wadley, Alexandrea, Belmont, John W., Kim, Jeffrey J., Lupski, James R, Arnesen, Thomas
izdano v Eur J Hum Genet (2018)