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A repository of Ogden syndrome patient derived iPSC lines and isogenic pairs by X-chromosome screening and genome-editing.
Wesely J, Rusielewicz T, Chen YR, Hartley B, McKenzie D, Yim MK, Maguire C, Bia R, Franklin S, Makwana R, Marchi E, Nikte M, Patil S, Sapar M, Moroziewicz D; NYSCF Global Stem Cell Array® Team; Bauer L, Lee JT, Monsma FJ Jr, Paull D, Lyon GJ. Wesely J, et al. Among authors: lyon gj. bioRxiv [Preprint]. 2024 Sep 28:2024.09.28.615067. doi: 10.1101/2024.09.28.615067. bioRxiv. 2024. PMID: 39386428 Free PMC article. Preprint.
Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting 80% of cytosolic proteins in humans. The human essential gene, NAA10, encodes the enzyme NAA10, as the catalytic subunit for the N-terminal acetyltransferase A (NatA) complex, includi …
Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting 80% of cytosolic proteins in humans. The human essential …
Ophthalmic manifestations of NAA10-related and NAA15-related neurodevelopmental syndromes: Analysis of cortical visual impairment and refractive errors.
Patel R, Park AY, Marchi E, Gropman AL, Whitehead MT, Lyon GJ. Patel R, et al. Among authors: lyon gj. Am J Med Genet A. 2024 Dec;194(12):e63821. doi: 10.1002/ajmg.a.63821. Epub 2024 Jul 16. Am J Med Genet A. 2024. PMID: 39012200
NAA10-related (Ogden syndrome) and NAA15-related neurodevelopmental syndrome are known to present with varying degrees of intellectual disability, hypotonia, congenital cardiac abnormalities, seizures, and delayed speech and motor development. ...No statistically significa …
NAA10-related (Ogden syndrome) and NAA15-related neurodevelopmental syndrome are known to present with varying degrees of intellectua …
Neuroanatomical Features of NAA10- and NAA15-Related Neurodevelopmental Syndromes.
Patel R, Makwana R, Christ C, Marchi E, Ung N, Harpell R, Miyake CY, Gropman AL, Lyon GJ, Whitehead MT. Patel R, et al. Among authors: lyon gj. medRxiv [Preprint]. 2024 Jun 25:2024.06.24.24309433. doi: 10.1101/2024.06.24.24309433. medRxiv. 2024. PMID: 38978667 Free PMC article. Preprint.
BACKGROUND: NAA10-related (Ogden Syndrome) and NAA15-related neurodevelopmental syndromes present with varying degrees of intellectual disability, hypotonia, congenital cardiac abnormalities, seizures, and delayed speech and motor development. ...Such changes were only obs …
BACKGROUND: NAA10-related (Ogden Syndrome) and NAA15-related neurodevelopmental syndromes present with varying degrees of intellectua …
Longitudinal adaptive behavioral outcomes in Ogden syndrome by seizure status and therapeutic intervention.
Makwana R, Christ C, Marchi E, Harpell R, Lyon GJ. Makwana R, et al. Among authors: lyon gj. Am J Med Genet A. 2024 Sep;194(9):e63651. doi: 10.1002/ajmg.a.63651. Epub 2024 May 15. Am J Med Genet A. 2024. PMID: 38747166
Ogden syndrome, also known as NAA10-related neurodevelopmental syndrome, is a rare genetic condition associated with pathogenic variants in the NAA10 N-terminal acetylation family of proteins. ...A therapy investigation showed speech therapy to be the most commonly …
Ogden syndrome, also known as NAA10-related neurodevelopmental syndrome, is a rare genetic condition associated with pathogenic varia …
Evaluating possible maternal effect lethality and genetic background effects in Naa10 knockout mice.
Lyon GJ, Longo J, Garcia A, Inusa F, Marchi E, Shi D, Dörfel M, Arnesen T, Aldabe R, Lyons S, Nashat MA, Bolton D. Lyon GJ, et al. PLoS One. 2024 May 7;19(5):e0301328. doi: 10.1371/journal.pone.0301328. eCollection 2024. PLoS One. 2024. PMID: 38713657 Free PMC article.
Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting approximately 80% of all human proteins. The human essential X-linked gene, NAA10, encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetyltransferase A ( …
Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting approximately 80% of all human proteins. The human essent …
A Natural History of NAA15 -related Neurodevelopmental Disorder Through Adolescence.
Makwana R, Christ C, Patel R, Marchi E, Harpell R, Lyon GJ. Makwana R, et al. Among authors: lyon gj. medRxiv [Preprint]. 2024 Jul 26:2024.04.20.24306120. doi: 10.1101/2024.04.20.24306120. medRxiv. 2024. PMID: 38712024 Free PMC article. Preprint.
NAA15 is a member of the NatA N-terminal acetyltransferase complex, which also includes the NAA10 enzymatic sub-unit. Individuals with variants in the NAA15 coding region develop NAA15 -related neurodevelopmental syndrome, which presents with a wide array of manifestations …
NAA15 is a member of the NatA N-terminal acetyltransferase complex, which also includes the NAA10 enzymatic sub-unit. Individuals wit …
GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts.
Wu D, Yang J, Liu C, Hsieh TC, Marchi E, Blair J, Krawitz P, Weng C, Chung W, Lyon GJ, Krantz ID, Kalish JM, Wang K. Wu D, et al. Among authors: lyon gj. ArXiv [Preprint]. 2024 Apr 22:arXiv:2312.15320v2. ArXiv. 2024. PMID: 38711434 Free PMC article. Preprint.
Furthermore, we also evaluated GestaltMML on a diverse range of datasets, including 528 diseases from the GestaltMatcher Database, several in-house datasets of Beckwith-Wiedemann syndrome (BWS, over-growth syndrome with distinct facial features), Sotos syndrome (overgrowth syndro …
Furthermore, we also evaluated GestaltMML on a diverse range of datasets, including 528 diseases from the GestaltMatcher Database, several i …
Longitudinal Adaptive Behavioral Outcomes in Ogden Syndrome by Seizure Status and Therapeutic Intervention.
Makwana R, Christ C, Marchi E, Harpell R, Lyon GJ. Makwana R, et al. Among authors: lyon gj. medRxiv [Preprint]. 2024 Feb 24:2024.02.23.24303144. doi: 10.1101/2024.02.23.24303144. medRxiv. 2024. Update in: Am J Med Genet A. 2024 Sep;194(9):e63651. doi: 10.1002/ajmg.a.63651 PMID: 38585745 Free PMC article. Updated. Preprint.
Ogden syndrome, also known as NAA10-related neurodevelopmental syndrome, is a rare genetic condition associated with pathogenic variants in the NAA10 N-terminal acetylation family of proteins. ...Therapy investigation showed speech therapy to be the most commonly us …
Ogden syndrome, also known as NAA10-related neurodevelopmental syndrome, is a rare genetic condition associated with pathogenic varia …
Ophthalmic Manifestations of NAA10-Related and NAA15-Related Neurodevelopmental Syndrome: Analysis of Cortical Visual Impairment and Refractive Errors.
Patel R, Park AY, Marchi E, Gropman AL, Whitehead MT, Lyon GJ. Patel R, et al. Among authors: lyon gj. medRxiv [Preprint]. 2024 Feb 2:2024.02.01.24302161. doi: 10.1101/2024.02.01.24302161. medRxiv. 2024. Update in: Am J Med Genet A. 2024 Dec;194(12):e63821. doi: 10.1002/ajmg.a.63821 PMID: 38352572 Free PMC article. Updated. Preprint.
Analysis revealed a higher prevalence of ophthalmic conditions in our NAA10 cohort compared to existing literature (myopia 25.4% vs. 4.7%; astigmatism 37.3% vs. 13.2%; strabismus 28.4% vs. 3.8%; CVI 22.4% vs. 8.5%, respectively). No statistically significant differences we …
Analysis revealed a higher prevalence of ophthalmic conditions in our NAA10 cohort compared to existing literature (myopia 25.4% vs. …
Evaluating possible maternal effect lethality and genetic background effects in Naa10 knockout mice.
Lyon GJ, Longo J, Garcia A, Inusa F, Marchi E, Shi D, Dörfel M, Arnesen T, Aldabe R, Lyons S, Nashat MA, Bolton D. Lyon GJ, et al. bioRxiv [Preprint]. 2024 Jan 10:2023.04.27.538618. doi: 10.1101/2023.04.27.538618. bioRxiv. 2024. Update in: PLoS One. 2024 May 7;19(5):e0301328. doi: 10.1371/journal.pone.0301328 PMID: 37163119 Free PMC article. Updated. Preprint.
Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting approximately 80% of all human proteins. The human essential X-linked gene, NAA10, encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetyltransferase A ( …
Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting approximately 80% of all human proteins. The human essent …
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.
Lyon GJ, Vedaie M, Beisheim T, Park A, Marchi E, Gottlieb L, Hsieh TC, Klinkhammer H, Sandomirsky K, Cheng H, Starr LJ, Preddy I, Tseng M, Li Q, Hu Y, Wang K, Carvalho A, Martinez F, Caro-Llopis A, Gavin M, Amble K, Krawitz P, Marmorstein R, Herr-Israel E. Lyon GJ, et al. Eur J Hum Genet. 2023 Jul;31(7):824-833. doi: 10.1038/s41431-023-01368-y. Epub 2023 May 2. Eur J Hum Genet. 2023. PMID: 37130971 Free PMC article.
Here we reveal the genetic landscape of variation in NAA10 and NAA15 in humans. Through a genotype-first approach, one clinician interviewed the parents of 56 individuals with NAA10 variants and 19 individuals with NAA15 variants, which were added to all known cases …
Here we reveal the genetic landscape of variation in NAA10 and NAA15 in humans. Through a genotype-first approach, one clinician inte …
Phenotypic variability and gastrointestinal manifestations/interventions for growth in NAA10-related neurodevelopmental syndrome.
Sandomirsky K, Marchi E, Gavin M, Amble K, Lyon GJ. Sandomirsky K, et al. Among authors: lyon gj. Am J Med Genet A. 2023 May;191(5):1293-1300. doi: 10.1002/ajmg.a.63152. Epub 2023 Feb 21. Am J Med Genet A. 2023. PMID: 36810866 Free PMC article.
Our study of 61 children with NAA10-related neurodevelopmental syndrome, an X-linked disorder due to NAA10 gene variants, demonstrated a high prevalence of growth failure, with weight and height percentiles often in the failure-to-thrive diagnostic range; however, d …
Our study of 61 children with NAA10-related neurodevelopmental syndrome, an X-linked disorder due to NAA10 gene variants, demo …
Naa12 compensates for Naa10 in mice in the amino-terminal acetylation pathway.
Kweon HY, Lee MN, Dorfel M, Seo S, Gottlieb L, PaPazyan T, McTiernan N, Ree R, Bolton D, Garcia A, Flory M, Crain J, Sebold A, Lyons S, Ismail A, Marchi E, Sonn SK, Jeong SJ, Jeon S, Ju S, Conway SJ, Kim T, Kim HS, Lee C, Roh TY, Arnesen T, Marmorstein R, Oh GT, Lyon GJ. Kweon HY, et al. Among authors: lyon gj. Elife. 2021 Aug 6;10:e65952. doi: 10.7554/eLife.65952. Elife. 2021. PMID: 34355692 Free PMC article.
Amino-terminal acetylation is catalyzed by a set of N-terminal acetyltransferases (NATs). The NatA complex (including X-linked Naa10 and Naa15) is the major acetyltransferase, with 40-50% of all mammalian proteins being potential substrates. ...Naa12 is a previously unanno …
Amino-terminal acetylation is catalyzed by a set of N-terminal acetyltransferases (NATs). The NatA complex (including X-linked Naa10 …
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Cheng H, Gottlieb L, Marchi E, Kleyner R, Bhardwaj P, Rope AF, Rosenheck S, Moutton S, Philippe C, Eyaid W, Alkuraya FS, Toribio J, Mena R, Prada CE, Stessman H, Bernier R, Wermuth M, Kauffmann B, Blaumeiser B, Kooy RF, Baralle D, Mancini GMS, Conway SJ, Xia F, Chen Z, Meng L, Mihajlovic L, Marmorstein R, Lyon GJ. Cheng H, et al. Among authors: lyon gj. Hum Mol Genet. 2020 Mar 27;29(5):877-878. doi: 10.1093/hmg/ddz173. Hum Mol Genet. 2020. PMID: 32027362 Free PMC article. No abstract available.
From Molecular Understanding to Organismal Biology of N-Terminal Acetyltransferases.
Lyon GJ. Lyon GJ. Structure. 2019 Jul 2;27(7):1053-1055. doi: 10.1016/j.str.2019.06.002. Structure. 2019. PMID: 31269458 Free PMC article.
In this issue of Structure, Deng et al. (2019) determine the structure of the yeast N-terminal acetyltransferases Naa10 and Naa50 in complex with Naa15 and demonstrate that Naa50 has negligible catalytic activity on its own but modulates Naa10/Naa15. ...
In this issue of Structure, Deng et al. (2019) determine the structure of the yeast N-terminal acetyltransferases Naa10 and Naa50 in …
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Cheng H, Gottlieb L, Marchi E, Kleyner R, Bhardwaj P, Rope AF, Rosenheck S, Moutton S, Philippe C, Eyaid W, Alkuraya FS, Toribio J, Mena R, Prada CE, Stessman H, Bernier R, Wermuth M, Kauffmann B, Blaumeiser B, Kooy RF, Baralle D, Mancini GMS, Conway SJ, Xia F, Chen Z, Meng L, Mihajlovic L, Marmorstein R, Lyon GJ. Cheng H, et al. Among authors: lyon gj. Hum Mol Genet. 2019 Sep 1;28(17):2900-2919. doi: 10.1093/hmg/ddz111. Hum Mol Genet. 2019. PMID: 31127942 Free PMC article.
N-alpha-acetylation is one of the most common co-translational protein modifications in humans and is essential for normal cell function. NAA10 encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetyltransferase A (NatA) complex. ...One …
N-alpha-acetylation is one of the most common co-translational protein modifications in humans and is essential for normal cell function. …
NAA10-related syndrome.
Wu Y, Lyon GJ. Wu Y, et al. Among authors: lyon gj. Exp Mol Med. 2018 Jul 27;50(7):1-10. doi: 10.1038/s12276-018-0098-x. Exp Mol Med. 2018. PMID: 30054457 Free PMC article. Review.
NAA10-related syndrome is an X-linked condition with a broad spectrum of findings ranging from a severe phenotype in males with p.Ser37Pro in NAA10, originally described as Ogden syndrome, to the milder NAA10-related intellectual disability found with differe …
NAA10-related syndrome is an X-linked condition with a broad spectrum of findings ranging from a severe phenotype in males with p.Ser …
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, Rosenfeld JA, Conboy E, Agre K, Xia F, Walkiewicz M, Longoni M, High FA, van Slegtenhorst MA, Mancini GMS, Finnila CR, van Haeringen A, den Hollander N, Ruivenkamp C, Naidu S, Mahida S, Palmer EE, Murray L, Lim D, Jayakar P, Parker MJ, Giusto S, Stracuzzi E, Romano C, Beighley JS, Bernier RA, Küry S, Nizon M, Corbett MA, Shaw M, Gardner A, Barnett C, Armstrong R, Kassahn KS, Van Dijck A, Vandeweyer G, Kleefstra T, Schieving J, Jongmans MJ, de Vries BBA, Pfundt R, Kerr B, Rojas SK, Boycott KM, Person R, Willaert R, Eichler EE, Kooy RF, Yang Y, Wu JC, Lupski JR, Arnesen T, Cooper GM, Chung WK, Gecz J, Stessman HAF, Meng L, Lyon GJ. Cheng H, et al. Among authors: lyon gj. Am J Hum Genet. 2018 May 3;102(5):985-994. doi: 10.1016/j.ajhg.2018.03.004. Epub 2018 Apr 12. Am J Hum Genet. 2018. PMID: 29656860 Free PMC article.
We previously identified the genetic basis of an X-linked infantile lethal Mendelian disorder involving a c.109T>C (p.Ser37Pro) missense variant in NAA10, which encodes the catalytic subunit of the N-terminal acetyltransferase A (NatA) complex. The auxiliary subunit of …
We previously identified the genetic basis of an X-linked infantile lethal Mendelian disorder involving a c.109T>C (p.Ser37Pro) missense …
Proteomic and genomic characterization of a yeast model for Ogden syndrome.
Dörfel MJ, Fang H, Crain J, Klingener M, Weiser J, Lyon GJ. Dörfel MJ, et al. Among authors: lyon gj. Yeast. 2017 Jan;34(1):19-37. doi: 10.1002/yea.3211. Epub 2016 Dec 6. Yeast. 2017. PMID: 27668839 Free PMC article.
Naa10 is an N(alpha) -terminal acetyltransferase that, in a complex with its auxiliary subunit Naa15, co-translationally acetylates the alpha-amino group of newly synthetized proteins as they emerge from the ribosome. Roughly 40-50% of the human proteome is acetylated by …
Naa10 is an N(alpha) -terminal acetyltransferase that, in a complex with its auxiliary subunit Naa15, co-translationally acetylates t …
The biological functions of Naa10 - From amino-terminal acetylation to human disease.
Dörfel MJ, Lyon GJ. Dörfel MJ, et al. Among authors: lyon gj. Gene. 2015 Aug 10;567(2):103-31. doi: 10.1016/j.gene.2015.04.085. Epub 2015 May 16. Gene. 2015. PMID: 25987439 Free PMC article. Review.
Roughly, about 40% of all human proteins are substrates of Naa10 and the impact of this modification has only been studied for a few of them. Besides acting as a NAT in the NatA complex, recently other functions have been linked to Naa10, including post-translationa …
Roughly, about 40% of all human proteins are substrates of Naa10 and the impact of this modification has only been studied for a few …
Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects.
Myklebust LM, Van Damme P, Støve SI, Dörfel MJ, Abboud A, Kalvik TV, Grauffel C, Jonckheere V, Wu Y, Swensen J, Kaasa H, Liszczak G, Marmorstein R, Reuter N, Lyon GJ, Gevaert K, Arnesen T. Myklebust LM, et al. Among authors: lyon gj. Hum Mol Genet. 2015 Apr 1;24(7):1956-76. doi: 10.1093/hmg/ddu611. Epub 2014 Dec 8. Hum Mol Genet. 2015. PMID: 25489052 Free PMC article.
The affected males harbor an Ser37Pro (S37P) mutation in the gene encoding Naa10, the catalytic subunit of NatA, the major human NAT involved in the co-translational acetylation of proteins. Structural models and molecular dynamics simulations of the human NatA and its S37 …
The affected males harbor an Ser37Pro (S37P) mutation in the gene encoding Naa10, the catalytic subunit of NatA, the major human NAT …
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.
Rope AF, Wang K, Evjenth R, Xing J, Johnston JJ, Swensen JJ, Johnson WE, Moore B, Huff CD, Bird LM, Carey JC, Opitz JM, Stevens CA, Jiang T, Schank C, Fain HD, Robison R, Dalley B, Chin S, South ST, Pysher TJ, Jorde LB, Hakonarson H, Lillehaug JR, Biesecker LG, Yandell M, Arnesen T, Lyon GJ. Rope AF, et al. Among authors: lyon gj. Am J Hum Genet. 2011 Jul 15;89(1):28-43. doi: 10.1016/j.ajhg.2011.05.017. Epub 2011 Jun 23. Am J Hum Genet. 2011. PMID: 21700266 Free PMC article.
Using X chromosome exon sequencing and a recently developed probabilistic algorithm aimed at discovering disease-causing variants, we identified in one family a c.109T>C (p.Ser37Pro) variant in NAA10, a gene encoding the catalytic subunit of the major human N-terminal a …
Using X chromosome exon sequencing and a recently developed probabilistic algorithm aimed at discovering disease-causing variants, we identi …