[HTML][HTML] 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 …

[HTML][HTML] CRISPR-based technologies for the manipulation of eukaryotic genomes

AC Komor, AH Badran, DR Liu - Cell, 2017 - cell.com
The CRISPR-Cas9 RNA-guided DNA endonuclease has contributed to an explosion of
advances in the life sciences that have grown from the ability to edit genomes within living …

Autism genes converge on asynchronous development of shared neuron classes

B Paulsen, S Velasco, AJ Kedaigle, M Pigoni… - Nature, 2022 - nature.com
Genetic risk for autism spectrum disorder (ASD) is associated with hundreds of genes
spanning a wide range of biological functions,,,,–. The alterations in the human brain …

Applications of CRISPR technologies in research and beyond

R Barrangou, JA Doudna - Nature biotechnology, 2016 - nature.com
Programmable DNA cleavage using CRISPR–Cas9 enables efficient, site-specific genome
engineering in single cells and whole organisms. In the research arena, versatile CRISPR …

The role of GABAergic signalling in neurodevelopmental disorders

X Tang, R Jaenisch, M Sur - Nature Reviews Neuroscience, 2021 - nature.com
GABAergic inhibition shapes the connectivity, activity and plasticity of the brain. A series of
exciting new discoveries provides compelling evidence that disruptions in a number of key …

[HTML][HTML] Building models of brain disorders with three-dimensional organoids

ND Amin, SP Paşca - Neuron, 2018 - cell.com
Disorders of the nervous system are challenging to study and treat due to the relative
inaccessibility of functional human brain tissue for research. Stem cell-derived 3D human …

[HTML][HTML] Artificial intelligence for precision medicine in neurodevelopmental disorders

M Uddin, Y Wang, M Woodbury-Smith - NPJ digital medicine, 2019 - nature.com
The ambition of precision medicine is to design and optimize the pathway for diagnosis,
therapeutic intervention, and prognosis by using large multidimensional biological datasets …

[HTML][HTML] Glucocerebrosidase and its relevance to Parkinson disease

J Do, C McKinney, P Sharma, E Sidransky - Molecular neurodegeneration, 2019 - Springer
Mutations in GBA1, the gene encoding the lysosomal enzyme glucocerebrosidase, are
among the most common known genetic risk factors for the development of Parkinson …

Chd8 mediates cortical neurogenesis via transcriptional regulation of cell cycle and Wnt signaling

O Durak, F Gao, YJ Kaeser-Woo, R Rueda… - Nature …, 2016 - nature.com
De novo mutations in CHD8 are strongly associated with autism spectrum disorder, but the
basic biology of CHD8 remains poorly understood. Here we report that Chd8 knockdown …

[HTML][HTML] Modeling neurological diseases with human brain organoids

H Wang - Frontiers in synaptic neuroscience, 2018 - frontiersin.org
The complexity and delicacy of human brain make it challenging to recapitulate its
development, function and disorders. Brain organoids derived from human pluripotent stem …