Correction: WDFY3 mutation alters laminar position and morphology of cortical neurons / Lyvin TAT ; Noemi CANNIZZARO ; Alexios A. PANOUTSOPOULOS ; Ralph GREEN ; Thomas RULICKE ; Simon HIPPENMEYER ; Konstantinos S. ZARBALIS in Molecular Autism, 14 (2023)  

Public ISBD [article]  inMolecular Autism > 14 (2023) . - 4 p. Titre : Correction: WDFY3 mutation alters laminar position and morphology of cortical neurons Type de document : Texte imprimé et/ou numérique Auteurs : Lyvin TAT, Auteur ; Noemi CANNIZZARO, Auteur ; Alexios A. PANOUTSOPOULOS, Auteur ; Ralph GREEN, Auteur ; Thomas RULICKE, Auteur ; Simon HIPPENMEYER, Auteur ; Konstantinos S. ZARBALIS, Auteur Article en page(s) : 4 p. Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1186/s13229-023-00539-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=513 [article] Correction: WDFY3 mutation alters laminar position and morphology of cortical neurons [Texte imprimé et/ou numérique] / Lyvin TAT, Auteur ; Noemi CANNIZZARO, Auteur ; Alexios A. PANOUTSOPOULOS, Auteur ; Ralph GREEN, Auteur ; Thomas RULICKE, Auteur ; Simon HIPPENMEYER, Auteur ; Konstantinos S. ZARBALIS, Auteur . - 4 p. Langues : Anglais (eng) in Molecular Autism > 14 (2023) . - 4 p. Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1186/s13229-023-00539-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=513

Expression Changes in Epigenetic Gene Pathways Associated With One-Carbon Nutritional Metabolites in Maternal Blood From Pregnancies Resulting in Autism and Non-Typical Neurodevelopment / Yihui ZHU in Autism Research, 14-1 (January 2021)  

Public ISBD [article]  inAutism Research > 14-1 (January 2021) . - p.11-28 Titre : Expression Changes in Epigenetic Gene Pathways Associated With One-Carbon Nutritional Metabolites in Maternal Blood From Pregnancies Resulting in Autism and Non-Typical Neurodevelopment Type de document : Texte imprimé et/ou numérique Auteurs : Yihui ZHU, Auteur ; Charles E. MORDAUNT, Auteur ; Blythe DURBIN-JOHNSON, Auteur ; Marie A. CAUDILL, Auteur ; Olga V. MALYSHEVA, Auteur ; Joshua W. MILLER, Auteur ; Ralph GREEN, Auteur ; S. Jill JAMES, Auteur ; Stepan B. MELNYK, Auteur ; M. Daniele FALLIN, Auteur ; Irva HERTZ-PICCIOTTO, Auteur ; Rebecca J. SCHMIDT, Auteur ; Janine M. LASALLE, Auteur Article en page(s) : p.11-28 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  maternal blood  neurodevelopment  nutrition  one-carbon metabolites  prenatal  transcriptome Index. décimale : PER Périodiques Résumé : The prenatal period is a critical window for the development of autism spectrum disorder (ASD). The relationship between prenatal nutrients and gestational gene expression in mothers of children later diagnosed with ASD or non-typical development (Non-TD) is poorly understood. Maternal blood collected prospectively during pregnancy provides insights into the effects of nutrition, particularly one-carbon metabolites, on gene pathways and neurodevelopment. Genome-wide transcriptomes were measured with microarrays in 300 maternal blood samples in Markers of Autism Risk in Babies-Learning Early Signs. Sixteen different one-carbon metabolites, including folic acid, betaine, 5'-methyltretrahydrofolate (5-MeTHF), and dimethylglycine (DMG) were measured. Differential expression analysis and weighted gene correlation network analysis (WGCNA) were used to compare gene expression between children later diagnosed as typical development (TD), Non-TD and ASD, and to one-carbon metabolites. Using differential gene expression analysis, six transcripts (TGR-AS1, SQSTM1, HLA-C, and RFESD) were associated with child outcomes (ASD, Non-TD, and TD) with genome-wide significance. Genes nominally differentially expressed between ASD and TD significantly overlapped with seven high confidence ASD genes. WGCNA identified co-expressed gene modules significantly correlated with 5-MeTHF, folic acid, DMG, and betaine. A module enriched in DNA methylation functions showed a suggestive protective association with folic acid/5-MeTHF concentrations and ASD risk. Maternal plasma betaine and DMG concentrations were associated with a block of co-expressed genes enriched for adaptive immune, histone modification, and RNA processing functions. These results suggest that the prenatal maternal blood transcriptome is a sensitive indicator of gestational one-carbon metabolite status and changes relevant to children's later neurodevelopmental outcomes. LAY SUMMARY: Pregnancy is a time when maternal nutrition could interact with genetic risk for autism spectrum disorder. Blood samples collected during pregnancy from mothers who had a prior child with autism were examined for gene expression and nutrient metabolites, then compared to the diagnosis of the child at age three. Expression differences in gene pathways related to the immune system and gene regulation were observed for pregnancies of children with autism and non-typical neurodevelopment and were associated with maternal nutrients. En ligne : http://dx.doi.org/10.1002/aur.2428 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=441 [article] Expression Changes in Epigenetic Gene Pathways Associated With One-Carbon Nutritional Metabolites in Maternal Blood From Pregnancies Resulting in Autism and Non-Typical Neurodevelopment [Texte imprimé et/ou numérique] / Yihui ZHU, Auteur ; Charles E. MORDAUNT, Auteur ; Blythe DURBIN-JOHNSON, Auteur ; Marie A. CAUDILL, Auteur ; Olga V. MALYSHEVA, Auteur ; Joshua W. MILLER, Auteur ; Ralph GREEN, Auteur ; S. Jill JAMES, Auteur ; Stepan B. MELNYK, Auteur ; M. Daniele FALLIN, Auteur ; Irva HERTZ-PICCIOTTO, Auteur ; Rebecca J. SCHMIDT, Auteur ; Janine M. LASALLE, Auteur . - p.11-28. Langues : Anglais (eng) in Autism Research > 14-1 (January 2021) . - p.11-28 Mots-clés : autism spectrum disorder  maternal blood  neurodevelopment  nutrition  one-carbon metabolites  prenatal  transcriptome Index. décimale : PER Périodiques Résumé : The prenatal period is a critical window for the development of autism spectrum disorder (ASD). The relationship between prenatal nutrients and gestational gene expression in mothers of children later diagnosed with ASD or non-typical development (Non-TD) is poorly understood. Maternal blood collected prospectively during pregnancy provides insights into the effects of nutrition, particularly one-carbon metabolites, on gene pathways and neurodevelopment. Genome-wide transcriptomes were measured with microarrays in 300 maternal blood samples in Markers of Autism Risk in Babies-Learning Early Signs. Sixteen different one-carbon metabolites, including folic acid, betaine, 5'-methyltretrahydrofolate (5-MeTHF), and dimethylglycine (DMG) were measured. Differential expression analysis and weighted gene correlation network analysis (WGCNA) were used to compare gene expression between children later diagnosed as typical development (TD), Non-TD and ASD, and to one-carbon metabolites. Using differential gene expression analysis, six transcripts (TGR-AS1, SQSTM1, HLA-C, and RFESD) were associated with child outcomes (ASD, Non-TD, and TD) with genome-wide significance. Genes nominally differentially expressed between ASD and TD significantly overlapped with seven high confidence ASD genes. WGCNA identified co-expressed gene modules significantly correlated with 5-MeTHF, folic acid, DMG, and betaine. A module enriched in DNA methylation functions showed a suggestive protective association with folic acid/5-MeTHF concentrations and ASD risk. Maternal plasma betaine and DMG concentrations were associated with a block of co-expressed genes enriched for adaptive immune, histone modification, and RNA processing functions. These results suggest that the prenatal maternal blood transcriptome is a sensitive indicator of gestational one-carbon metabolite status and changes relevant to children's later neurodevelopmental outcomes. LAY SUMMARY: Pregnancy is a time when maternal nutrition could interact with genetic risk for autism spectrum disorder. Blood samples collected during pregnancy from mothers who had a prior child with autism were examined for gene expression and nutrient metabolites, then compared to the diagnosis of the child at age three. Expression differences in gene pathways related to the immune system and gene regulation were observed for pregnancies of children with autism and non-typical neurodevelopment and were associated with maternal nutrients. En ligne : http://dx.doi.org/10.1002/aur.2428 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=441

WDFY3 mutation alters laminar position and morphology of cortical neurons / Zachary A. SCHAAF in Molecular Autism, 13 (2022)  

Public ISBD [article]  inMolecular Autism > 13 (2022) . - 27 p. Titre : WDFY3 mutation alters laminar position and morphology of cortical neurons Type de document : Texte imprimé et/ou numérique Auteurs : Zachary A. SCHAAF, Auteur ; Lyvin TAT, Auteur ; Noemi CANNIZZARO, Auteur ; Ralph GREEN, Auteur ; Thomas RULICKE, Auteur ; Simon HIPPENMEYER, Auteur ; Konstantinos S. ZARBALIS, Auteur Article en page(s) : 27 p. Langues : Anglais (eng) Mots-clés : Adaptor Proteins, Signal Transducing/genetics  Animals  Autistic Disorder/genetics  Autophagy-Related Proteins/genetics  Cerebral Cortex/cytology  Humans  Mice  Mutation  Neurogenesis/genetics  Neurons/cytology  Cerebral cortex  Dendrites  Dendritic spines  Excitatory neurons  Neuronal migration  Wdfy3 Index. décimale : PER Périodiques Résumé : BACKGROUND: Proper cerebral cortical development depends on the tightly orchestrated migration of newly born neurons from the inner ventricular and subventricular zones to the outer cortical plate. Any disturbance in this process during prenatal stages may lead to neuronal migration disorders (NMDs), which can vary in extent from focal to global. Furthermore, NMDs show a substantial comorbidity with other neurodevelopmental disorders, notably autism spectrum disorders (ASDs). Our previous work demonstrated focal neuronal migration defects in mice carrying loss-of-function alleles of the recognized autism risk gene WDFY3. However, the cellular origins of these defects in Wdfy3 mutant mice remain elusive and uncovering it will provide critical insight into WDFY3-dependent disease pathology. METHODS: Here, in an effort to untangle the origins of NMDs in Wdfy3(lacZ) mice, we employed mosaic analysis with double markers (MADM). MADM technology enabled us to genetically distinctly track and phenotypically analyze mutant and wild-type cells concomitantly in vivo using immunofluorescent techniques. RESULTS: We revealed a cell autonomous requirement of WDFY3 for accurate laminar positioning of cortical projection neurons and elimination of mispositioned cells during early postnatal life. In addition, we identified significant deviations in dendritic arborization, as well as synaptic density and morphology between wild type, heterozygous, and homozygous Wdfy3 mutant neurons in Wdfy3-MADM reporter mice at postnatal stages. LIMITATIONS: While Wdfy3 mutant mice have provided valuable insight into prenatal aspects of ASD pathology that remain inaccessible to investigation in humans, like most animal models, they do not a perfectly replicate all aspects of human ASD biology. The lack of human data makes it indeterminate whether morphological deviations described here apply to ASD patients or some of the other neurodevelopmental conditions associated with WDFY3 mutation. CONCLUSIONS: Our genetic approach revealed several cell autonomous requirements of WDFY3 in neuronal development that could underlie the pathogenic mechanisms of WDFY3-related neurodevelopmental conditions. The results are also consistent with findings in other ASD animal models and patients and suggest an important role for WDFY3 in regulating neuronal function and interconnectivity in postnatal life. En ligne : http://dx.doi.org/10.1186/s13229-022-00508-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=491 [article] WDFY3 mutation alters laminar position and morphology of cortical neurons [Texte imprimé et/ou numérique] / Zachary A. SCHAAF, Auteur ; Lyvin TAT, Auteur ; Noemi CANNIZZARO, Auteur ; Ralph GREEN, Auteur ; Thomas RULICKE, Auteur ; Simon HIPPENMEYER, Auteur ; Konstantinos S. ZARBALIS, Auteur . - 27 p. Langues : Anglais (eng) in Molecular Autism > 13 (2022) . - 27 p. Mots-clés : Adaptor Proteins, Signal Transducing/genetics  Animals  Autistic Disorder/genetics  Autophagy-Related Proteins/genetics  Cerebral Cortex/cytology  Humans  Mice  Mutation  Neurogenesis/genetics  Neurons/cytology  Cerebral cortex  Dendrites  Dendritic spines  Excitatory neurons  Neuronal migration  Wdfy3 Index. décimale : PER Périodiques Résumé : BACKGROUND: Proper cerebral cortical development depends on the tightly orchestrated migration of newly born neurons from the inner ventricular and subventricular zones to the outer cortical plate. Any disturbance in this process during prenatal stages may lead to neuronal migration disorders (NMDs), which can vary in extent from focal to global. Furthermore, NMDs show a substantial comorbidity with other neurodevelopmental disorders, notably autism spectrum disorders (ASDs). Our previous work demonstrated focal neuronal migration defects in mice carrying loss-of-function alleles of the recognized autism risk gene WDFY3. However, the cellular origins of these defects in Wdfy3 mutant mice remain elusive and uncovering it will provide critical insight into WDFY3-dependent disease pathology. METHODS: Here, in an effort to untangle the origins of NMDs in Wdfy3(lacZ) mice, we employed mosaic analysis with double markers (MADM). MADM technology enabled us to genetically distinctly track and phenotypically analyze mutant and wild-type cells concomitantly in vivo using immunofluorescent techniques. RESULTS: We revealed a cell autonomous requirement of WDFY3 for accurate laminar positioning of cortical projection neurons and elimination of mispositioned cells during early postnatal life. In addition, we identified significant deviations in dendritic arborization, as well as synaptic density and morphology between wild type, heterozygous, and homozygous Wdfy3 mutant neurons in Wdfy3-MADM reporter mice at postnatal stages. LIMITATIONS: While Wdfy3 mutant mice have provided valuable insight into prenatal aspects of ASD pathology that remain inaccessible to investigation in humans, like most animal models, they do not a perfectly replicate all aspects of human ASD biology. The lack of human data makes it indeterminate whether morphological deviations described here apply to ASD patients or some of the other neurodevelopmental conditions associated with WDFY3 mutation. CONCLUSIONS: Our genetic approach revealed several cell autonomous requirements of WDFY3 in neuronal development that could underlie the pathogenic mechanisms of WDFY3-related neurodevelopmental conditions. The results are also consistent with findings in other ASD animal models and patients and suggest an important role for WDFY3 in regulating neuronal function and interconnectivity in postnatal life. En ligne : http://dx.doi.org/10.1186/s13229-022-00508-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=491

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