Nina Mc Tiernan
- Visitor AddressJonas Lies vei 915009 Bergen
- Postal AddressPostboks 78045020 Bergen
- (2022). Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation. Human Genetics. 1355-1369.
- (2021). Naa12 compensates for Naa10 in mice in the amino-terminal acetylation pathway. eLIFE.
- (2021). Hydroxylation of the acetyltransferase NAA10 Trp38 is not an enzyme-switch in human cells. International Journal of Molecular Sciences. 1-16.
- (2020). 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. BMC Medical Genetics. 1-9.
- (2020). Naa10 p.(d10g) and naa10 p.(l11r) variants hamper formation of the nata n-terminal acetyltransferase complex. International Journal of Molecular Sciences. 1-9.
- (2020). NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy. European Journal of Human Genetics. 1-9.
- (2020). Molecular basis for N-terminal acetylation by human NatE and its modulation by HYPK. Nature Communications. 1-14.
- (2018). 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. BMC Medical Genetics. 1-9.
- (2018). A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy. European Journal of Human Genetics. 1-12.
More information in national current research information system (CRIStin)