Signalling pathways in autism spectrum disorder: mechanisms and therapeutic implications

CC Jiang, LS Lin, S Long, XY Ke, K Fukunaga… - Signal transduction and …, 2022 - nature.com
Autism spectrum disorder (ASD) is a prevalent and complex neurodevelopmental disorder
which has strong genetic basis. Despite the rapidly rising incidence of autism, little is known …

A synaptic perspective of fragile X syndrome and autism spectrum disorders

C Bagni, RS Zukin - Neuron, 2019 - cell.com
Altered synaptic structure and function is a major hallmark of fragile X syndrome (FXS),
autism spectrum disorders (ASDs), and other intellectual disabilities (IDs), which are …

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals

JJ Lee, R Wedow, A Okbay, E Kong, O Maghzian… - Nature …, 2018 - nature.com
Here we conducted a large-scale genetic association analysis of educational attainment in a
sample of approximately 1.1 million individuals and identify 1,271 independent genome …

Reintroduction of the archaic variant of NOVA1 in cortical organoids alters neurodevelopment

CA Trujillo, ES Rice, NK Schaefer, IA Chaim… - Science, 2021 - science.org
INTRODUCTION Current views of human evolution, as supported by the fossil record,
indicate that many hominin lineage branches arose, but only one survived to the present …

Revealing nanostructures in brain tissue via protein decrowding by iterative expansion microscopy

D Sarkar, J Kang, AT Wassie, ME Schroeder… - Nature biomedical …, 2022 - nature.com
Many crowded biomolecular structures in cells and tissues are inaccessible to labelling
antibodies. To understand how proteins within these structures are arranged with nanoscale …

Synaptopathology involved in autism spectrum disorder

S Guang, N Pang, X Deng, L Yang, F He… - Frontiers in cellular …, 2018 - frontiersin.org
Autism spectrum disorder (ASD) encompasses a group of multifactorial neurodevelopmental
disorders characterized by impaired social communication, social interaction and repetitive …

Anterior cingulate cortex dysfunction underlies social deficits in Shank3 mutant mice

B Guo, J Chen, Q Chen, K Ren, D Feng, H Mao… - Nature …, 2019 - nature.com
Social deficit is a core clinical feature of autism spectrum disorder (ASD) but the underlying
neural mechanisms remain largely unclear. We demonstrate that structural and functional …

The ASD Living Biology: from cell proliferation to clinical phenotype

E Courchesne, T Pramparo, VH Gazestani… - Molecular …, 2019 - nature.com
Autism spectrum disorder (ASD) has captured the attention of scientists, clinicians and the
lay public because of its uncertain origins and striking and unexplained clinical …

Dendritic structural plasticity and neuropsychiatric disease

MP Forrest, E Parnell, P Penzes - Nature Reviews Neuroscience, 2018 - nature.com
The structure of neuronal circuits that subserve cognitive functions in the brain is shaped
and refined throughout development and into adulthood. Evidence from human and animal …

Autism spectrum disorder-like behavior caused by reduced excitatory synaptic transmission in pyramidal neurons of mouse prefrontal cortex

H Sacai, K Sakoori, K Konno, K Nagahama… - Nature …, 2020 - nature.com
Autism spectrum disorder (ASD) is thought to result from deviation from normal development
of neural circuits and synaptic function. Many genes with mutation in ASD patients have …