Autophagy deficiency in neurodevelopmental disorders

Z Deng, X Zhou, JH Lu, Z Yue - Cell & Bioscience, 2021 - Springer
Autophagy is a cell self-digestion pathway through lysosome and plays a critical role in
maintaining cellular homeostasis and cytoprotection. Characterization of autophagy related …

Dysfunctional mTORC1 signaling: a convergent mechanism between syndromic and nonsyndromic forms of autism spectrum disorder?

J Magdalon, SM Sánchez-Sánchez… - International Journal of …, 2017 - mdpi.com
Whereas autism spectrum disorder (ASD) exhibits striking heterogeneity in genetics and
clinical presentation, dysfunction of mechanistic target of rapamycin complex 1 (mTORC1) …

Rare RELN variants affect Reelin–DAB1 signal transduction in autism spectrum disorder

SM Sánchez‐Sánchez, J Magdalon… - Human …, 2018 - Wiley Online Library
The Reelin–DAB1 signaling pathway plays a crucial role in regulating neuronal migration
and synapse function. Although many rare heterozygous variants in the Reelin gene (RELN) …

Mitochondrial dysfunction is inducible in lymphoblastoid cell lines from children with autism and may involve the TORC1 pathway

SC Bennuri, S Rose, RE Frye - Frontiers in Psychiatry, 2019 - frontiersin.org
We previously developed a lymphoblastoid cell line (LCL) model of mitochondrial
dysfunction in autism spectrum disorder (ASD); some individuals with ASD showed …

Actin cytoskeleton dynamics in stem cells from autistic individuals

K Griesi-Oliveira, AM Suzuki, AY Alves, ACCN Mafra… - Scientific reports, 2018 - nature.com
Several lines of indirect evidence, such as mutations or dysregulated expression of genes
related to cytoskeleton, have suggested that cytoskeletal dynamics, a process essential for …

Dysregulation of protein synthesis and dendritic spine morphogenesis in ASD: studies in human pluripotent stem cells

LHY Lo, KO Lai - Molecular autism, 2020 - Springer
Autism spectrum disorder (ASD) is a brain disorder that involves changes in neuronal
connections. Abnormal morphology of dendritic spines on postsynaptic neurons has been …

Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism

COF Machado, K Griesi-Oliveira… - European Journal of …, 2016 - nature.com
Protein synthesis regulation via mammalian target of rapamycin complex 1 (mTORC1)
signaling pathway has key roles in neural development and function, and its dysregulation is …

Complement C4 is reduced in iPSC-derived astrocytes of autism spectrum disorder subjects

F Mansur, AL Teles e Silva, AKS Gomes… - International Journal of …, 2021 - mdpi.com
In recent years, accumulating evidence has shown that the innate immune complement
system is involved in several aspects of normal brain development and in …

The contribution of platelets to peripheral BDNF elevation in children with autism spectrum disorder

CA Farmer, AE Thurm, B Honnekeri, P Kim… - Scientific Reports, 2021 - nature.com
Brain-derived neurotrophic factor (BDNF), a key peptide in neurocognitive development, has
been reported to be elevated in the serum of children with autism spectrum disorder (ASD) …

Generation and characterization of cortical organoids from iPSC-derived dental pulp stem cells using traditional and innovative approaches

ALT e Silva, BY Yokota-Moreno, MS Branquinho… - Neurochemistry …, 2024 - Elsevier
Cortical organoids derived from human induced pluripotent stem cells (hiPSCs) represent a
powerful in vitro experimental system to investigate human brain development and disease …