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
Natural History of NAA15 -Related Neurodevelopmental Disorder Through Adolescence.
Makwana R et al.
American Journal of Medical Genetics. Part A, 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
A repository of Ogden syndrome patient derived iPSC lines and isogenic pairs by X-chromosome screening and genome-editing.
Wesely J et al.
Biorxiv : the Preprint Server for Biology, 2024
A Natural History of NAA15 -related Neurodevelopmental Disorder Through Adolescence.
Makwana R et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Longitudinal Adaptive Behavioral Outcomes in Ogden Syndrome by Seizure Status and Therapeutic Intervention.
Makwana R et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
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
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Cheng H et al.
Human Molecular Genetics, 2019
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