Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
Informations pratiques
-
Adresse
Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexHoraires
Lundi au Vendredi
9h00-12h00 13h30-16h00Contact
Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Résultat de la recherche
5 recherche sur le mot-clé 'declare that they have no competing interests.Springer Nature remains neutral'
Affiner la recherche Générer le flux rss de la recherche
Partager le résultat de cette recherche Faire une suggestion
Atypical event-related potentials revealed during the passive parts of a Go-NoGo task in autism spectrum disorder: a case-control study / A. L. HOYLAND in Molecular Autism, 10 (2019)
[article]
Titre : Atypical event-related potentials revealed during the passive parts of a Go-NoGo task in autism spectrum disorder: a case-control study Type de document : Texte imprimé et/ou numérique Auteurs : A. L. HOYLAND, Auteur ; T. NAERLAND, Auteur ; M. ENGSTROM, Auteur ; T. TORSKE, Auteur ; S. LYDERSEN, Auteur ; Ole A. ANDREASSEN, Auteur Article en page(s) : 10 p. Langues : Anglais (eng) Mots-clés : *asd *erp *n1 *P3a *Passive condition Research Ethics South East (2013/1236/REK South-East). Written informed consent was obtained from participants and/ or parents necessary due to age.The authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: The core features of autism spectrum disorder (ASD) are easily recognizable in non-structured clinical and real-life situations. The features are often difficult to capture in structured laboratory settings, and the results from tests do not necessarily reflect symptom severity. We investigated neurophysiological processing in the passive parts of a cued Go-NoGo task, using the active parts of the test as a comparator. Methods: Forty-nine adolescents diagnosed with ASD and 49 typically developing (TD) adolescents (age 12-21 years) were included. Daily life executive function was assessed with the Behavior Rating Inventory of Executive Function (BRIEF). We applied a visual cued Go-NoGo task and recorded event-related potentials (ERPs). We investigated occipital N1, a component related to early perception of visual stimuli, and P3a, a fronto-central component related to switching of attention, in the passive and active parts of the test. Results: During the passive parts, the ASD group had statistically significantly longer N1 latency (p < 0.001, Cohens d = 0.75) and enhanced amplitude of P3a (p = 0.002, Cohens d = 0.64) compared to the TD, while no significant differences were observed in the active parts. Both components correlated significantly with the Behavioral Regulation Index of the BRIEF (partial correlation r = 0.35, p = 0.003). Conclusion: Delayed N1 response, indicating altered visual perception, and enhanced P3a response, indicating increased neural activation related to attention allocation, were found during the passive parts of a Go-NoGo task in ASD participants. These abnormal ERP signals in the non-structured settings were associated with everyday executive function, suggesting that neurophysiolocal measures related to atypical control of alertness and "hyper-awareness" underlie daily life dysfunction in ASD. Assessments during passive settings have a potential to reveal core neurobiological substrates of ASD. En ligne : https://dx.doi.org/10.1186/s13229-019-0259-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=389
in Molecular Autism > 10 (2019) . - 10 p.[article] Atypical event-related potentials revealed during the passive parts of a Go-NoGo task in autism spectrum disorder: a case-control study [Texte imprimé et/ou numérique] / A. L. HOYLAND, Auteur ; T. NAERLAND, Auteur ; M. ENGSTROM, Auteur ; T. TORSKE, Auteur ; S. LYDERSEN, Auteur ; Ole A. ANDREASSEN, Auteur . - 10 p.
Langues : Anglais (eng)
in Molecular Autism > 10 (2019) . - 10 p.
Mots-clés : *asd *erp *n1 *P3a *Passive condition Research Ethics South East (2013/1236/REK South-East). Written informed consent was obtained from participants and/ or parents necessary due to age.The authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: The core features of autism spectrum disorder (ASD) are easily recognizable in non-structured clinical and real-life situations. The features are often difficult to capture in structured laboratory settings, and the results from tests do not necessarily reflect symptom severity. We investigated neurophysiological processing in the passive parts of a cued Go-NoGo task, using the active parts of the test as a comparator. Methods: Forty-nine adolescents diagnosed with ASD and 49 typically developing (TD) adolescents (age 12-21 years) were included. Daily life executive function was assessed with the Behavior Rating Inventory of Executive Function (BRIEF). We applied a visual cued Go-NoGo task and recorded event-related potentials (ERPs). We investigated occipital N1, a component related to early perception of visual stimuli, and P3a, a fronto-central component related to switching of attention, in the passive and active parts of the test. Results: During the passive parts, the ASD group had statistically significantly longer N1 latency (p < 0.001, Cohens d = 0.75) and enhanced amplitude of P3a (p = 0.002, Cohens d = 0.64) compared to the TD, while no significant differences were observed in the active parts. Both components correlated significantly with the Behavioral Regulation Index of the BRIEF (partial correlation r = 0.35, p = 0.003). Conclusion: Delayed N1 response, indicating altered visual perception, and enhanced P3a response, indicating increased neural activation related to attention allocation, were found during the passive parts of a Go-NoGo task in ASD participants. These abnormal ERP signals in the non-structured settings were associated with everyday executive function, suggesting that neurophysiolocal measures related to atypical control of alertness and "hyper-awareness" underlie daily life dysfunction in ASD. Assessments during passive settings have a potential to reveal core neurobiological substrates of ASD. En ligne : https://dx.doi.org/10.1186/s13229-019-0259-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=389 Does stereopsis account for the link between motor and social skills in adults? / D. SMITH in Molecular Autism, 9 (2018)
[article]
Titre : Does stereopsis account for the link between motor and social skills in adults? Type de document : Texte imprimé et/ou numérique Auteurs : D. SMITH, Auteur ; D. ROPAR, Auteur ; H. A. ALLEN, Auteur Article en page(s) : 55p. Langues : Anglais (eng) Mots-clés : Depth perception Factor analysis Motor skills Path analysis Social skills Stereoability Stereopsis accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants included in the study.Not applicableThe authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: Experimental and longitudinal evidence suggests that motor proficiency plays an important role in the development of social skills. However, stereopsis, or depth perception, may also play a fundamental role in social skill development either indirectly through its impact on motor skills or through a more direct route. To date, no systematic study has investigated the relationship between social skills and motor ability in the general adult population, and whether poor stereopsis may contribute to this association. This has implications for clinical populations since research has shown associations between motor abnormalities and social skills, as well as reduced depth perception in autism spectrum disorder and developmental coordination disorder. Methods: Six hundred fifty adults completed three validated questionnaires, the stereopsis screening inventory, the Adult Developmental Coordination Disorder Checklist, and the Autism Spectrum Quotient. Results: An exploratory factor analysis on pooled items across all measures revealed 10 factors that were largely composed of items from a single scale, indicating that any co-occurrence of poor stereopsis, reduced motor proficiency, and difficulties with social interaction cannot be attributed to a single underlying mechanism. Correlations between extracted factor scores found associations between motor skill and social skill. Conclusions: Mediation analyses suggested that whilst fine motor skill and coordination explained the relationship between stereopsis and social skill to some extent, stereopsis nonetheless exerted a substantial direct effect upon social skill. This is the first study to demonstrate that the functional significance of stereopsis is not limited to motor ability and may directly impact upon social functioning. En ligne : https://dx.doi.org/10.1186/s13229-018-0234-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371
in Molecular Autism > 9 (2018) . - 55p.[article] Does stereopsis account for the link between motor and social skills in adults? [Texte imprimé et/ou numérique] / D. SMITH, Auteur ; D. ROPAR, Auteur ; H. A. ALLEN, Auteur . - 55p.
Langues : Anglais (eng)
in Molecular Autism > 9 (2018) . - 55p.
Mots-clés : Depth perception Factor analysis Motor skills Path analysis Social skills Stereoability Stereopsis accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants included in the study.Not applicableThe authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: Experimental and longitudinal evidence suggests that motor proficiency plays an important role in the development of social skills. However, stereopsis, or depth perception, may also play a fundamental role in social skill development either indirectly through its impact on motor skills or through a more direct route. To date, no systematic study has investigated the relationship between social skills and motor ability in the general adult population, and whether poor stereopsis may contribute to this association. This has implications for clinical populations since research has shown associations between motor abnormalities and social skills, as well as reduced depth perception in autism spectrum disorder and developmental coordination disorder. Methods: Six hundred fifty adults completed three validated questionnaires, the stereopsis screening inventory, the Adult Developmental Coordination Disorder Checklist, and the Autism Spectrum Quotient. Results: An exploratory factor analysis on pooled items across all measures revealed 10 factors that were largely composed of items from a single scale, indicating that any co-occurrence of poor stereopsis, reduced motor proficiency, and difficulties with social interaction cannot be attributed to a single underlying mechanism. Correlations between extracted factor scores found associations between motor skill and social skill. Conclusions: Mediation analyses suggested that whilst fine motor skill and coordination explained the relationship between stereopsis and social skill to some extent, stereopsis nonetheless exerted a substantial direct effect upon social skill. This is the first study to demonstrate that the functional significance of stereopsis is not limited to motor ability and may directly impact upon social functioning. En ligne : https://dx.doi.org/10.1186/s13229-018-0234-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371 Autism-associated CHD8 deficiency impairs axon development and migration of cortical neurons / Q. XU in Molecular Autism, 9 (2018)
[article]
Titre : Autism-associated CHD8 deficiency impairs axon development and migration of cortical neurons Type de document : Texte imprimé et/ou numérique Auteurs : Q. XU, Auteur ; Y. Y. LIU, Auteur ; X. WANG, Auteur ; G. H. TAN, Auteur ; H. P. LI, Auteur ; S. W. HULBERT, Auteur ; C. Y. LI, Auteur ; C. C. HU, Auteur ; Z. Q. XIONG, Auteur ; X. XU, Auteur ; Y. H. JIANG, Auteur Article en page(s) : 65 p. Langues : Anglais (eng) Mots-clés : Animals Autistic Disorder/*genetics/pathology Cells, Cultured Cerebral Cortex/cytology/growth & development DNA-Binding Proteins/*genetics/metabolism Humans Mice Mice, Inbred C57BL *Neurogenesis Neurons/cytology/*metabolism/physiology *Autism spectrum disorder (ASD) *chd8 *Chromatin remodeling *Neurite growth *Neurodevelopment Animal Care and Use Committee-approved protocols both at Children's Hospital of Fudan University ethics approval ID: 2015-87 and Duke University. Human postmortem brain tissues: The use of archived human postmortem brain tissues is approved by Institute Review Board at Duke University.Not applicableThe authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: Mutations in CHD8, chromodomain helicase DNA-binding protein 8, are among the most replicated and common findings in genetic studies of autism spectrum disorder (ASD). The CHD8 protein is believed to act as a transcriptional regulator by remodeling chromatin structure and recruiting histone H1 to target genes. The mechanism by which deficiency of CHD8 causes ASD has not been fully elucidated. Methods: We examined the expression of CHD8 in human and mouse brains using both immunohistochemistry and RNA in situ hybridization. We performed in utero electroporation, neuronal culture, and biochemical analysis using RNAi to examine the functional consequences of CHD8 deficiency. Results: We discovered that CHD8 is expressed highly in neurons and at low levels in glia cells in both humans and mice. Specifically, CHD8 is localized predominately in the nucleus of both MAP2 and parvalbumin-positive neurons. In the developing mouse brain, expression of Chd8 peaks from E16 to E18 and then decreases significantly at P14 to adulthood. Knockdown of Chd8 results in reduced axon and dendritic growth, disruption of axon projections to the contralateral cortex, and delayed neuronal migration at E18.5 which recovers by P3 and P7. Conclusion: Our findings indicate an important role for CHD8 in dendritic and axon development and neuronal migration and thus offer novel insights to further dissect the underlying molecular and circuit mechanisms of ASD caused by CHD8 deficiency. En ligne : https://dx.doi.org/10.1186/s13229-018-0244-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=389
in Molecular Autism > 9 (2018) . - 65 p.[article] Autism-associated CHD8 deficiency impairs axon development and migration of cortical neurons [Texte imprimé et/ou numérique] / Q. XU, Auteur ; Y. Y. LIU, Auteur ; X. WANG, Auteur ; G. H. TAN, Auteur ; H. P. LI, Auteur ; S. W. HULBERT, Auteur ; C. Y. LI, Auteur ; C. C. HU, Auteur ; Z. Q. XIONG, Auteur ; X. XU, Auteur ; Y. H. JIANG, Auteur . - 65 p.
Langues : Anglais (eng)
in Molecular Autism > 9 (2018) . - 65 p.
Mots-clés : Animals Autistic Disorder/*genetics/pathology Cells, Cultured Cerebral Cortex/cytology/growth & development DNA-Binding Proteins/*genetics/metabolism Humans Mice Mice, Inbred C57BL *Neurogenesis Neurons/cytology/*metabolism/physiology *Autism spectrum disorder (ASD) *chd8 *Chromatin remodeling *Neurite growth *Neurodevelopment Animal Care and Use Committee-approved protocols both at Children's Hospital of Fudan University ethics approval ID: 2015-87 and Duke University. Human postmortem brain tissues: The use of archived human postmortem brain tissues is approved by Institute Review Board at Duke University.Not applicableThe authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: Mutations in CHD8, chromodomain helicase DNA-binding protein 8, are among the most replicated and common findings in genetic studies of autism spectrum disorder (ASD). The CHD8 protein is believed to act as a transcriptional regulator by remodeling chromatin structure and recruiting histone H1 to target genes. The mechanism by which deficiency of CHD8 causes ASD has not been fully elucidated. Methods: We examined the expression of CHD8 in human and mouse brains using both immunohistochemistry and RNA in situ hybridization. We performed in utero electroporation, neuronal culture, and biochemical analysis using RNAi to examine the functional consequences of CHD8 deficiency. Results: We discovered that CHD8 is expressed highly in neurons and at low levels in glia cells in both humans and mice. Specifically, CHD8 is localized predominately in the nucleus of both MAP2 and parvalbumin-positive neurons. In the developing mouse brain, expression of Chd8 peaks from E16 to E18 and then decreases significantly at P14 to adulthood. Knockdown of Chd8 results in reduced axon and dendritic growth, disruption of axon projections to the contralateral cortex, and delayed neuronal migration at E18.5 which recovers by P3 and P7. Conclusion: Our findings indicate an important role for CHD8 in dendritic and axon development and neuronal migration and thus offer novel insights to further dissect the underlying molecular and circuit mechanisms of ASD caused by CHD8 deficiency. En ligne : https://dx.doi.org/10.1186/s13229-018-0244-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=389 Diffusional kurtosis imaging of the corpus callosum in autism / Y. V. SUI in Molecular Autism, 9 (2018)
[article]
Titre : Diffusional kurtosis imaging of the corpus callosum in autism Type de document : Texte imprimé et/ou numérique Auteurs : Y. V. SUI, Auteur ; J. DONALDSON, Auteur ; L. MILES, Auteur ; James S. BABB, Auteur ; Francisco Xavier CASTELLANOS, Auteur ; M. LAZAR, Auteur Article en page(s) : 62 p. Langues : Anglais (eng) Mots-clés : Adolescent Adult Autistic Disorder/*diagnostic imaging/physiopathology Case-Control Studies Corpus Callosum/*diagnostic imaging Humans Magnetic Resonance Imaging Wechsler Scales White Matter/diagnostic imaging *Autism *Corpus callosum *Diffusional kurtosis imaging *Interhemispheric connectivity *Processing speed Medicine. All participants provided informed consent at the time of their visit.The authors give consent for this manuscript to be published.The authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: The corpus callosum is implicated in the pathophysiology of autism spectrum disorder (ASD). However, specific structural deficits and underlying mechanisms are yet to be well defined. Methods: We employed diffusional kurtosis imaging (DKI) metrics to characterize white matter properties within five discrete segments of the corpus callosum in 17 typically developing (TD) adults and 16 age-matched participants with ASD without co-occurring intellectual disability (ID). The DKI metrics included axonal water fraction (f axon) and intra-axonal diffusivity (D axon), which reflect axonal density and caliber, and extra-axonal radial (RDextra) and axial (ADextra) diffusivities, which reflect myelination and microstructural organization of the extracellular space. The relationships between DKI metrics and processing speed, a cognitive feature known to be impaired in ASD, were also examined. Results: ASD group had significantly decreased callosal f axon and D axon (p = .01 and p = .045), particularly in the midbody, isthmus, and splenium. Regression analysis showed that variation in DKI metrics, primarily in the mid and posterior callosal regions explained up to 70.7% of the variance in processing speed scores for TD (p = .001) but not for ASD (p > .05). Conclusion: Decreased DKI metrics suggested that ASD may be associated with axonal deficits such as reduced axonal caliber and density in the corpus callosum, especially in the mid and posterior callosal areas. These data suggest that impaired interhemispheric connectivity may contribute to decreased processing speed in ASD participants. En ligne : https://dx.doi.org/10.1186/s13229-018-0245-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=389
in Molecular Autism > 9 (2018) . - 62 p.[article] Diffusional kurtosis imaging of the corpus callosum in autism [Texte imprimé et/ou numérique] / Y. V. SUI, Auteur ; J. DONALDSON, Auteur ; L. MILES, Auteur ; James S. BABB, Auteur ; Francisco Xavier CASTELLANOS, Auteur ; M. LAZAR, Auteur . - 62 p.
Langues : Anglais (eng)
in Molecular Autism > 9 (2018) . - 62 p.
Mots-clés : Adolescent Adult Autistic Disorder/*diagnostic imaging/physiopathology Case-Control Studies Corpus Callosum/*diagnostic imaging Humans Magnetic Resonance Imaging Wechsler Scales White Matter/diagnostic imaging *Autism *Corpus callosum *Diffusional kurtosis imaging *Interhemispheric connectivity *Processing speed Medicine. All participants provided informed consent at the time of their visit.The authors give consent for this manuscript to be published.The authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: The corpus callosum is implicated in the pathophysiology of autism spectrum disorder (ASD). However, specific structural deficits and underlying mechanisms are yet to be well defined. Methods: We employed diffusional kurtosis imaging (DKI) metrics to characterize white matter properties within five discrete segments of the corpus callosum in 17 typically developing (TD) adults and 16 age-matched participants with ASD without co-occurring intellectual disability (ID). The DKI metrics included axonal water fraction (f axon) and intra-axonal diffusivity (D axon), which reflect axonal density and caliber, and extra-axonal radial (RDextra) and axial (ADextra) diffusivities, which reflect myelination and microstructural organization of the extracellular space. The relationships between DKI metrics and processing speed, a cognitive feature known to be impaired in ASD, were also examined. Results: ASD group had significantly decreased callosal f axon and D axon (p = .01 and p = .045), particularly in the midbody, isthmus, and splenium. Regression analysis showed that variation in DKI metrics, primarily in the mid and posterior callosal regions explained up to 70.7% of the variance in processing speed scores for TD (p = .001) but not for ASD (p > .05). Conclusion: Decreased DKI metrics suggested that ASD may be associated with axonal deficits such as reduced axonal caliber and density in the corpus callosum, especially in the mid and posterior callosal areas. These data suggest that impaired interhemispheric connectivity may contribute to decreased processing speed in ASD participants. En ligne : https://dx.doi.org/10.1186/s13229-018-0245-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=389 Subcellular organization of UBE3A in human cerebral cortex / A. C. BURETTE in Molecular Autism, 9 (2018)
[article]
Titre : Subcellular organization of UBE3A in human cerebral cortex Type de document : Texte imprimé et/ou numérique Auteurs : A. C. BURETTE, Auteur ; M. C. JUDSON, Auteur ; A. N. LI, Auteur ; E. F. CHANG, Auteur ; W. W. SEELEY, Auteur ; B. D. PHILPOT, Auteur ; R. J. WEINBERG, Auteur Article en page(s) : 54p. Langues : Anglais (eng) Mots-clés : Angelman syndrome Axon terminal e6-ap Euchromatin Mitochondria UCSF Committee on Human Research and the University of Maryland Institutional Review Board.All authors read and approved the final manuscript.The authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: Loss of UBE3A causes Angelman syndrome, whereas excess UBE3A activity appears to increase the risk for autism. Despite this powerful association with neurodevelopmental disorders, there is still much to be learned about UBE3A, including its cellular and subcellular organization in the human brain. The issue is important, since UBE3A's localization is integral to its function. Methods: We used light and electron microscopic immunohistochemistry to study the cellular and subcellular distribution of UBE3A in the adult human cerebral cortex. Experiments were performed on multiple tissue sources, but our results focused on optimally preserved material, using surgically resected human temporal cortex of high ultrastructural quality from nine individuals. Results: We demonstrate that UBE3A is expressed in both glutamatergic and GABAergic neurons, and to a lesser extent in glial cells. We find that UBE3A in neurons has a non-uniform subcellular distribution. In somata, UBE3A preferentially concentrates in euchromatin-rich domains within the nucleus. Electron microscopy reveals that labeling concentrates in the head and neck of dendritic spines and is excluded from the PSD. Strongest labeling within the neuropil was found in axon terminals. Conclusions: By highlighting the subcellular compartments in which UBE3A is likely to function in the human neocortex, our data provide insight into the diverse functional capacities of this E3 ligase. These anatomical data may help to elucidate the role of UBE3A in Angelman syndrome and autism spectrum disorder. En ligne : https://dx.doi.org/10.1186/s13229-018-0238-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371
in Molecular Autism > 9 (2018) . - 54p.[article] Subcellular organization of UBE3A in human cerebral cortex [Texte imprimé et/ou numérique] / A. C. BURETTE, Auteur ; M. C. JUDSON, Auteur ; A. N. LI, Auteur ; E. F. CHANG, Auteur ; W. W. SEELEY, Auteur ; B. D. PHILPOT, Auteur ; R. J. WEINBERG, Auteur . - 54p.
Langues : Anglais (eng)
in Molecular Autism > 9 (2018) . - 54p.
Mots-clés : Angelman syndrome Axon terminal e6-ap Euchromatin Mitochondria UCSF Committee on Human Research and the University of Maryland Institutional Review Board.All authors read and approved the final manuscript.The authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: Loss of UBE3A causes Angelman syndrome, whereas excess UBE3A activity appears to increase the risk for autism. Despite this powerful association with neurodevelopmental disorders, there is still much to be learned about UBE3A, including its cellular and subcellular organization in the human brain. The issue is important, since UBE3A's localization is integral to its function. Methods: We used light and electron microscopic immunohistochemistry to study the cellular and subcellular distribution of UBE3A in the adult human cerebral cortex. Experiments were performed on multiple tissue sources, but our results focused on optimally preserved material, using surgically resected human temporal cortex of high ultrastructural quality from nine individuals. Results: We demonstrate that UBE3A is expressed in both glutamatergic and GABAergic neurons, and to a lesser extent in glial cells. We find that UBE3A in neurons has a non-uniform subcellular distribution. In somata, UBE3A preferentially concentrates in euchromatin-rich domains within the nucleus. Electron microscopy reveals that labeling concentrates in the head and neck of dendritic spines and is excluded from the PSD. Strongest labeling within the neuropil was found in axon terminals. Conclusions: By highlighting the subcellular compartments in which UBE3A is likely to function in the human neocortex, our data provide insight into the diverse functional capacities of this E3 ligase. These anatomical data may help to elucidate the role of UBE3A in Angelman syndrome and autism spectrum disorder. En ligne : https://dx.doi.org/10.1186/s13229-018-0238-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371