Associated Papers
Cardiological Manifestations in Males and Females Affected by NAA10 -Related Disease.
Bottillo I et al.
American Journal of Medical Genetics. Part A, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Conformational plasticity links structural instability of NAA10F128I and NAA10F128L mutants to their catalytic deregulation.
Saha S et al.
Computational and Structural Biotechnology Journal, 2024
Multiple impacts of Naa10p on cancer progression: Molecular functions and clinical prospects.
Ho KH et al.
Biochimica Et Biophysica Acta. Reviews on Cancer, 2023
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.
Lyon GJ et al.
European Journal of Human Genetics : Ejhg, 2023
Clinical manifestations in a Chinese girl with heterozygous de novo NAA10 variant c. 247C > T, p. (Arg83Cys): a case report.
Wei K et al.
Frontiers in Pediatrics, 2023
Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation.
McTiernan N et al.
Human Genetics, 2022
Confirmation of Ogden syndrome as an X-linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature.
Gogoll L et al.
American Journal of Medical Genetics. Part A, 2021
Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype-Phenotype Correlation in Females.
Maini I et al.
Genes, 2021
NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy.
McTiernan N et al.
European Journal of Human Genetics : Ejhg, 2021
NAA10 p.(D10G) and NAA10 p.(L11R) Variants Hamper Formation of the NatA N-Terminal Acetyltransferase Complex.
McTiernan N et al.
International Journal of Molecular Sciences, 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.
Bader I et al.
Bmc Medical Genetics, 2020
A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly.
Ree R et al.
Bmc Medical Genetics, 2019
Ocular Manifestations of the NAA10-Related Syndrome.
Gupta AS et al.
Case Reports in Genetics, 2019
A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy.
Støve SI et al.
European Journal of Human Genetics : Ejhg, 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.
McTiernan N et al.
Bmc Medical Genetics, 2018
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.
Saunier C et al.
Human Mutation, 2016
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.
Thevenon J et al.
Clinical Genetics, 2016