Naa15 Haploinsufficiency and De Novo Missense Variants Associate With Neurodevelopmental Disorders and Interfere With Neurogenesis and Neuron Development / Bing DU ; Guodong CHEN ; Yongqing LYU ; Hui GUO ; Xiangbin JIA ; Kun XIA in Autism Research, 18-5 (May 2025)  

Public ISBD [article]  inAutism Research > 18-5 (May 2025) . - p.954-965 Titre : Naa15 Haploinsufficiency and De Novo Missense Variants Associate With Neurodevelopmental Disorders and Interfere With Neurogenesis and Neuron Development Type de document : Texte imprimé et/ou numérique Auteurs : Bing DU, Auteur ; Guodong CHEN, Auteur ; Yongqing LYU, Auteur ; Hui GUO, Auteur ; Xiangbin JIA, Auteur ; Kun XIA, Auteur Article en page(s) : p.954-965 Langues : Anglais (eng) Mots-clés : autism spectrum disorders  brain development  de novo mutations  NAA15  neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : ABSTRACT Neurodevelopmental disorders (NDDs) encompass a group of conditions that impact brain development and function, exhibiting significant genetic and clinical heterogeneity. NAA15, the auxiliary subunit of the N-terminal acetyltransferase complex, has garnered attention due to its association with NDDs. However, the precise role of NAA15 in cortical development and its contribution to NDDs remain elusive. By employing targeted sequencing on a large Chinese cohort affected by ASD and conducting an extensive literature review, we have compiled 64 distinct variants in the NAA15 gene identified among individuals with neurodevelopmental disorders. Our research demonstrates that loss of NAA15 leads to a substantial increase in neuronal count, potentially resulting in aberrant brain development and triggering repetitive as well as anxious behaviors in mice models. Furthermore, disorder-associated variants within NAA15 impair axon and synapse formation processes crucial for neural connectivity establishment. These findings shed light on the consequences of NAA15 deficiency along with its de novo mutations on brain development while unraveling the cellular mechanisms underlying NDDs. En ligne : https://doi.org/10.1002/aur.3308 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558 [article] Naa15 Haploinsufficiency and De Novo Missense Variants Associate With Neurodevelopmental Disorders and Interfere With Neurogenesis and Neuron Development [Texte imprimé et/ou numérique] / Bing DU, Auteur ; Guodong CHEN, Auteur ; Yongqing LYU, Auteur ; Hui GUO, Auteur ; Xiangbin JIA, Auteur ; Kun XIA, Auteur . - p.954-965. Langues : Anglais (eng) in Autism Research > 18-5 (May 2025) . - p.954-965 Mots-clés : autism spectrum disorders  brain development  de novo mutations  NAA15  neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : ABSTRACT Neurodevelopmental disorders (NDDs) encompass a group of conditions that impact brain development and function, exhibiting significant genetic and clinical heterogeneity. NAA15, the auxiliary subunit of the N-terminal acetyltransferase complex, has garnered attention due to its association with NDDs. However, the precise role of NAA15 in cortical development and its contribution to NDDs remain elusive. By employing targeted sequencing on a large Chinese cohort affected by ASD and conducting an extensive literature review, we have compiled 64 distinct variants in the NAA15 gene identified among individuals with neurodevelopmental disorders. Our research demonstrates that loss of NAA15 leads to a substantial increase in neuronal count, potentially resulting in aberrant brain development and triggering repetitive as well as anxious behaviors in mice models. Furthermore, disorder-associated variants within NAA15 impair axon and synapse formation processes crucial for neural connectivity establishment. These findings shed light on the consequences of NAA15 deficiency along with its de novo mutations on brain development while unraveling the cellular mechanisms underlying NDDs. En ligne : https://doi.org/10.1002/aur.3308 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558

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