Genetic causes and modifiers of autism spectrum disorder

L Rylaarsdam, A Guemez-Gamboa - Frontiers in cellular …, 2019 - frontiersin.org
Autism Spectrum Disorder (ASD) is one of the most prevalent neurodevelopmental
disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous …

Advancing models of neural development with biomaterials

JG Roth, MS Huang, TL Li, VR Feig, Y Jiang… - Nature Reviews …, 2021 - nature.com
Human pluripotent stem cells have emerged as a promising in vitro model system for
studying the brain. Two-dimensional and three-dimensional cell culture paradigms have …

Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder

K Griesi-Oliveira, MS Fogo, BGG Pinto, AY Alves… - Molecular …, 2021 - nature.com
Abstract Evaluation of expression profile in autism spectrum disorder (ASD) patients is an
important approach to understand possible similar functional consequences that may …

[HTML][HTML] mTOR signalling pathway-A root cause for idiopathic autism?

H Ganesan, V Balasubramanian, M Iyer… - BMB …, 2019 - ncbi.nlm.nih.gov
Autism spectrum disorder (ASD) is a complex neurodevelopmental monogenic disorder with
a strong genetic influence. Idiopathic autism could be defined as a type of autism that does …

Convergent pathways in idiopathic autism revealed by time course transcriptomic analysis of patient-derived neurons

BA DeRosa, J El Hokayem, E Artimovich… - Scientific reports, 2018 - nature.com
Potentially pathogenic alterations have been identified in individuals with autism spectrum
disorders (ASDs) within a variety of key neurodevelopment genes. While this hints at a …

Shank and zinc mediate an AMPA receptor subunit switch in developing neurons

HTT Ha, S Leal-Ortiz, K Lalwani, S Kiyonaka… - Frontiers in molecular …, 2018 - frontiersin.org
During development, pyramidal neurons undergo dynamic regulation of AMPA receptor
(AMPAR) subunit composition and density to help drive synaptic plasticity and maturation …

Dysregulation of neurite outgrowth and cell migration in autism and other neurodevelopmental disorders

S Prem, JH Millonig, E DiCicco-Bloom - … Disorders: Employing iPSC …, 2020 - Springer
Despite decades of study, elucidation of the underlying etiology of complex developmental
disorders such as autism spectrum disorder (ASD), schizophrenia (SCZ), intellectual …

Comparative characterization of human induced pluripotent stem cells (hiPSC) derived from patients with schizophrenia and autism

LM Grunwald, R Stock, K Haag, S Buckenmaier… - Translational …, 2019 - nature.com
Human induced pluripotent stem cells (hiPSC) provide an attractive tool to study disease
mechanisms of neurodevelopmental disorders such as schizophrenia. A pertinent problem …

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells

N Nassir, A Bankapur, B Samara, A Ali, A Ahmed… - Human Genomics, 2021 - Springer
Background In recent years, several hundred autism spectrum disorder (ASD) implicated
genes have been discovered impacting a wide range of molecular pathways. However, the …

Stem cell therapies in cerebral palsy and autism spectrum disorder

JM Sun, J Kurtzberg - Developmental Medicine & Child …, 2021 - Wiley Online Library
Across disciplines, there is great anticipation that evolving cell therapies may finally provide
a therapeutic option for conditions in dire need. These conditions are typically complex and …