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
NAA10 (N-Alpha-Acetyltransferase 10): A Multifunctional Regulator in Development, Disease, and Cancer.
Yang ZQ et al.
Cells, 2025
The Cardiovascular Manifestations and Management Recommendations for Ogden Syndrome.
Makwana R et al.
Pediatric Cardiology, 2025
The Cardiovascular Manifestations and Management Recommendations for Ogden Syndrome.
Makwana R et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Illuminating the impact of N-terminal acetylation: from protein to physiology.
McTiernan N et al.
Nature Communications, 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
Ogden syndrome caused by the c.109T>C (p.Ser37Pro) variant in the NAA10 gene: A case report from Asia.
Kong X et al.
Asian Journal of Surgery, 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
Longitudinal adaptive behavioral outcomes in Ogden syndrome by seizure status and therapeutic intervention.
Makwana R et al.
American Journal of Medical Genetics. Part A, 2024
A four-year-old girl with pathogenic variant in the NAA10 gene and precocious puberty - case report and literature review.
Wojciechowska K et al.
Annals of Agricultural and Environmental Medicine : Aaem, 2024
Diverging co-translational protein complex assembly pathways are governed by interface energy distribution.
Venezian J et al.
Nature Communications, 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
Evaluating possible maternal effect lethality and genetic background effects in Naa10 knockout mice.
Lyon GJ et al.
Biorxiv : the Preprint Server for Biology, 2024
Evaluating possible maternal effect lethality and genetic background effects in Naa10 knockout mice.
Lyon GJ et al.
Plos One, 2024
Studying Long QT Syndrome Caused by NAA10 Genetic Variants Using Patient-Derived Induced Pluripotent Stem Cells.
Belbachir N et al.
Circulation, 2023
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
A Case of NAA10-related Syndrome With Prolonged QTc Treated With a Subcutaneous Implantable Cardioverter Defibrillator After Ventricular Fibrillation.
Mizuno Y et al.
Cjc Pediatric and Congenital Heart Disease, 2022
Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation.
McTiernan N et al.
Human Genetics, 2022
Case report: Rare among ultrarare-Clinical odyssey of a new patient with Ogden syndrome.
Hofman J et al.
Frontiers in Genetics, 2022
Naa12 compensates for Naa10 in mice in the amino-terminal acetylation pathway.
Kweon HY et al.
Elife, 2021
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
Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders.
Ouyang X et al.
Frontiers in Genetics, 2021
NAA10 variant in 38-week-gestation male patient: a case study.
Afrin A et al.
Cold Spring Harbor Molecular Case Studies, 2020
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
N-Terminal Proteoforms in Human Disease.
Bogaert A et al.
Trends in Biochemical Sciences, 2020
A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy.
Shishido A et al.
Human Genome Variation, 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
NAA10 polyadenylation signal variants cause syndromic microphthalmia.
Johnston JJ et al.
Journal of Medical 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