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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 Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model in Molecular Autism, 9 (2018)
[article]
Titre : Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model Type de document : Texte imprimé et/ou numérique Article en page(s) : 64 p. Langues : Anglais (eng) Mots-clés : Adult Autism Spectrum Disorder/*genetics Child Female Humans Male *Models, Genetic *Multifactorial Inheritance *Mutation Pedigree Quantitative Trait Loci *Autism spectrum disorders *De novo mutations *Genotype-phenotype relationship *Multifactorial model *Multiple hit *Targeted sequencing Institutional Review Board of the School of Life Sciences at Central South University (CSU), Changsha, Hunan, China. Informed consent was obtained from the parents or legal guardians of all study participants.Written informed consent for publication was obtained from the parents or legal guardians.EEE is on the scientific advisory board (SAB) of DNAnexus, Inc.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: We previously performed targeted sequencing of autism risk genes in probands from the Autism Clinical and Genetic Resources in China (ACGC) (phase I). Here, we expand this analysis to a larger cohort of patients (ACGC phase II) to better understand the prevalence, inheritance, and genotype-phenotype correlations of likely gene-disrupting (LGD) mutations for autism candidate genes originally identified in cohorts of European descent. Methods: We sequenced 187 autism candidate genes in an additional 784 probands and 85 genes in 599 probands using single-molecule molecular inversion probes. We tested the inheritance of potentially pathogenic mutations, performed a meta-analysis of phase I and phase II data and combined our results with existing exome sequence data to investigate the phenotypes of carrier parents and patients with multiple hits in different autism risk genes. Results: We validated recurrent, LGD, de novo mutations (DNMs) in 13 genes. We identified a potential novel risk gene (ZNF292), one novel gene with recurrent LGD DNMs (RALGAPB), as well as genes associated with macrocephaly (GIGYF2 and WDFY3). We identified the transmission of private LGD mutations in genes predominantly associated with DNMs and showed that parental carriers tended to share milder autism-related phenotypes. Patients that carried DNMs in two or more candidate genes show more severe phenotypes. Conclusions: We identify new risk genes and transmission of deleterious mutations in genes primarily associated with DNMs. The fact that parental carriers show milder phenotypes and patients with multiple hits are more severe supports a multifactorial model of risk. En ligne : https://dx.doi.org/10.1186/s13229-018-0247-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=389
in Molecular Autism > 9 (2018) . - 64 p.[article] Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model [Texte imprimé et/ou numérique] . - 64 p.
Langues : Anglais (eng)
in Molecular Autism > 9 (2018) . - 64 p.
Mots-clés : Adult Autism Spectrum Disorder/*genetics Child Female Humans Male *Models, Genetic *Multifactorial Inheritance *Mutation Pedigree Quantitative Trait Loci *Autism spectrum disorders *De novo mutations *Genotype-phenotype relationship *Multifactorial model *Multiple hit *Targeted sequencing Institutional Review Board of the School of Life Sciences at Central South University (CSU), Changsha, Hunan, China. Informed consent was obtained from the parents or legal guardians of all study participants.Written informed consent for publication was obtained from the parents or legal guardians.EEE is on the scientific advisory board (SAB) of DNAnexus, Inc.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: We previously performed targeted sequencing of autism risk genes in probands from the Autism Clinical and Genetic Resources in China (ACGC) (phase I). Here, we expand this analysis to a larger cohort of patients (ACGC phase II) to better understand the prevalence, inheritance, and genotype-phenotype correlations of likely gene-disrupting (LGD) mutations for autism candidate genes originally identified in cohorts of European descent. Methods: We sequenced 187 autism candidate genes in an additional 784 probands and 85 genes in 599 probands using single-molecule molecular inversion probes. We tested the inheritance of potentially pathogenic mutations, performed a meta-analysis of phase I and phase II data and combined our results with existing exome sequence data to investigate the phenotypes of carrier parents and patients with multiple hits in different autism risk genes. Results: We validated recurrent, LGD, de novo mutations (DNMs) in 13 genes. We identified a potential novel risk gene (ZNF292), one novel gene with recurrent LGD DNMs (RALGAPB), as well as genes associated with macrocephaly (GIGYF2 and WDFY3). We identified the transmission of private LGD mutations in genes predominantly associated with DNMs and showed that parental carriers tended to share milder autism-related phenotypes. Patients that carried DNMs in two or more candidate genes show more severe phenotypes. Conclusions: We identify new risk genes and transmission of deleterious mutations in genes primarily associated with DNMs. The fact that parental carriers show milder phenotypes and patients with multiple hits are more severe supports a multifactorial model of risk. En ligne : https://dx.doi.org/10.1186/s13229-018-0247-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=389 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 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 Autism-associated CHD8 deficiency impairs axon development and migration of cortical neurons / Q. XU in Molecular Autism, 9 (2018)
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