scholarly journals Autism Spectrum Disorder-Related Syndromes: Modeling with Drosophila and Rodents

2019 ◽  
Vol 20 (17) ◽  
pp. 4071 ◽  
Author(s):  
Ibuki Ueoka ◽  
Hang Thi Nguyet Pham ◽  
Kinzo Matsumoto ◽  
Masamitsu Yamaguchi
Keyword(s):  
Autism Spectrum Disorder ◽  
Regulatory Networks ◽  
Genetic Model ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Related Field ◽  
Whole Exome ◽  
In Silico Studies ◽  
Cytoskeleton Dynamics

Whole exome analyses have identified a number of genes associated with autism spectrum disorder (ASD) and ASD-related syndromes. These genes encode key regulators of synaptogenesis, synaptic plasticity, cytoskeleton dynamics, protein synthesis and degradation, chromatin remodeling, transcription, and lipid homeostasis. Furthermore, in silico studies suggest complex regulatory networks among these genes. Drosophila is a useful genetic model system for studies of ASD and ASD-related syndromes to clarify the in vivo roles of ASD-associated genes and the complex gene regulatory networks operating in the pathogenesis of ASD and ASD-related syndromes. In this review, we discuss what we have learned from studies with vertebrate models, mostly mouse models. We then highlight studies with Drosophila models. We also discuss future developments in the related field.

scholarly journals Correction to: Absence of parvalbumin increases mitochondria volume and branching of dendrites in inhibitory Pvalb neurons in vivo: a point of convergence of autism spectrum disorder (ASD) risk gene phenotypes

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Lucia Janickova ◽  
Karin Farah Rechberger ◽  
Lucas Wey ◽  
Beat Schwaller
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Risk Gene

An amendment to this paper has been published and can be accessed via the original article.

scholarly journals Involvement of the 14-3-3 Gene Family in Autism Spectrum Disorder and Schizophrenia: Genetics, Transcriptomics and Functional Analyses

2020 ◽  
Vol 9 (6) ◽  
pp. 1851
Author(s):  
Bàrbara Torrico ◽  
Ester Antón-Galindo ◽  
Noèlia Fernàndez-Castillo ◽  
Eva Rojo-Francàs ◽  
Sadaf Ghorbani ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Psychiatric Disorders ◽  
Rare Variants ◽  
Neurological Diseases ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Risk Variants ◽  
Whole Exome ◽  
Target Binding ◽  
Functional Analyses

The 14-3-3 protein family are molecular chaperones involved in several biological functions and neurological diseases. We previously pinpointed YWHAZ (encoding 14-3-3ζ) as a candidate gene for autism spectrum disorder (ASD) through a whole-exome sequencing study, which identified a frameshift variant within the gene (c.659-660insT, p.L220Ffs*18). Here, we explored the contribution of the seven human 14-3-3 family members in ASD and other psychiatric disorders by investigating the: (i) functional impact of the 14-3-3ζ mutation p.L220Ffs*18 by assessing solubility, target binding and dimerization; (ii) contribution of common risk variants in 14-3-3 genes to ASD and additional psychiatric disorders; (iii) burden of rare variants in ASD and schizophrenia; and iv) 14-3-3 gene expression using ASD and schizophrenia transcriptomic data. We found that the mutant 14-3-3ζ protein had decreased solubility and lost its ability to form heterodimers and bind to its target tyrosine hydroxylase. Gene-based analyses using publicly available datasets revealed that common variants in YWHAE contribute to schizophrenia (p = 6.6 × 10−7), whereas ultra-rare variants were found enriched in ASD across the 14-3-3 genes (p = 0.017) and in schizophrenia for YWHAZ (meta-p = 0.017). Furthermore, expression of 14-3-3 genes was altered in post-mortem brains of ASD and schizophrenia patients. Our study supports a role for the 14-3-3 family in ASD and schizophrenia.

Determination of genetic changes in etiology of autism spectrum disorder in twins by whole-exome sequencing

Gene Reports ◽  
2020 ◽  
Vol 19 ◽  
pp. 100618
Author(s):  
Ceyda Hayretdag ◽  
Pinar Algedik ◽  
Cumhur Gokhan Ekmekci ◽  
Ozlem Bozdagi Gunal ◽  
Umut Agyuz ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Genetic Changes ◽  
Whole Exome

Case Report: Whole Exome Sequencing Unveils an Inherited Truncating Variant in CNTN6 (p.Ser189Ter) in a Mexican Child with Autism Spectrum Disorder

2019 ◽  
Vol 50 (6) ◽  
pp. 2247-2251 ◽  
Author(s):  
José E. García-Ortiz ◽  
Ana I. Zarazúa-Niño ◽  
Angélica A. Hernández-Orozco ◽  
Edwin A. Reyes-Oliva ◽  
Carlos E. Pérez-Ávila ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Case Report ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Whole Exome ◽  
Mexican Child

scholarly journals In Vivo Evidence of Reduced Integrity of the Gray–White Matter Boundary in Autism Spectrum Disorder

2017 ◽  
Author(s):  
Derek Sayre Andrews ◽  
Thomas A. Avino ◽  
Maria Gudbrandsen ◽  
Eileen Daly ◽  
Andre Marquand ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
White Matter ◽  
Autism Spectrum ◽  
Spectrum Disorder

Social performance–based interventions promote gains in social knowledge in the absence of explicit training for youth with autism spectrum disorder

2019 ◽  
Vol 83 (3) ◽  
pp. 301-325 ◽  
Author(s):  
Bianca M. Marro ◽  
Erin Kang ◽  
Kathryn M. Hauschild ◽  
Karys M. Normansell ◽  
Tamara M. Abu-Ramadan ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Social Engagement ◽  
Social Performance ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Social Knowledge ◽  
Community Based ◽  
Social Skills Interventions ◽  
Explicit Training

Youth with autism spectrum disorder (ASD) experience deficits in social knowledge. It has long been theorized that these youth must learn these skills explicitly, and social skills interventions (SSIs) have followed suit. Recently, performance-based SSIs have emerged, which promote in vivo opportunities for social engagement without explicit instruction. Effects of performance-based SSIs on social knowledge have not been examined. This study employs two discrete samples (one lab-based, one community-based) of youth with ASD to examine the effects of performance-based interventions on social knowledge. Results largely support the efficacy and effectiveness of improving social knowledge by performance-based interventions without explicit teaching. This indicates that youth with ASD may be able to learn these aspects of social cognition implicitly, rather than exclusively explicitly. The results of the current study also suggest that SSI content, dosage, and intensity may relate to these outcomes, which are important considerations in clinical practice and future studies.

scholarly journals Cortical Anatomy in Autism Spectrum Disorder: An In Vivo MRI Study on the Effect of Age

2009 ◽  
Vol 20 (6) ◽  
pp. 1332-1340 ◽  
Author(s):  
Armin Raznahan ◽  
Roberto Toro ◽  
Eileen Daly ◽  
Dene Robertson ◽  
Clodagh Murphy ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Mri Study ◽  
Effect Of Age
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