Genetics of human brain development

Y Zhou, H Song, G Ming - Nature Reviews Genetics, 2024 - nature.com
Brain development in humans is achieved through precise spatiotemporal genetic control,
the mechanisms of which remain largely elusive. Recently, integration of technological …

Human 3D brain organoids: steering the demolecularization of brain and neurological diseases

YK Adlakha - Cell Death Discovery, 2023 - nature.com
Understanding of human brain development, dysfunction and neurological diseases has
remained limited and challenging due to inability to recapitulate human brain-specific …

Temporal morphogen gradient-driven neural induction shapes single expanded neuroepithelium brain organoids with enhanced cortical identity

A Pagliaro, R Finger, I Zoutendijk, S Bunschuh… - Nature …, 2023 - nature.com
Pluripotent stem cell (PSC)-derived human brain organoids enable the study of human brain
development in vitro. Typically, the fate of PSCs is guided into subsequent specification …

Huntington's disease cellular phenotypes are rescued non-cell autonomously by healthy cells in mosaic telencephalic organoids

M Galimberti, MR Nucera, VD Bocchi, P Conforti… - Nature …, 2024 - nature.com
Huntington's disease (HD) causes selective degeneration of striatal and cortical neurons,
resulting in cell mosaicism of coexisting still functional and dysfunctional cells. The impact of …

Modelling human brain development and disease with organoids

M Birtele, M Lancaster, G Quadrato - Nature Reviews Molecular Cell …, 2024 - nature.com
Organoids are systems derived from pluripotent stem cells at the interface between
traditional monolayer cultures and in vivo animal models. The structural and functional …

Advanced 3D imaging and organoid bioprinting for biomedical research and therapeutic applications

S Maharjan, C Ma, B Singh, H Kang, G Orive… - Advanced Drug Delivery …, 2024 - Elsevier
Organoid cultures offer a valuable platform for studying organ-level biology, allowing for a
closer mimicry of human physiology compared to traditional two-dimensional cell culture …

Deriving early single-rosette brain organoids from human pluripotent stem cells

AM Tidball, W Niu, Q Ma, TN Takla, JC Walker… - Stem Cell Reports, 2023 - cell.com
Brain organoid methods are complicated by multiple rosette structures and morphological
variability. We have developed a human brain organoid technique that generates self …

Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders

S Luo, PY Wang, P Zhou, WJ Zhang, YJ Gu… - The American Journal of …, 2025 - cell.com
EP400 encodes a core catalytic ATPase subunit of ATP-dependent chromatin remodeling
complexes. The gene-disease association of EP400 is undetermined. In this study, we …

A Shared Pathogenic Mechanism for Valproic Acid and SHROOM3 Knockout in a Brain Organoid Model of Neural Tube Defects

TN Takla, J Luo, R Sudyk, J Huang, JC Walker… - Cells, 2023 - mdpi.com
Neural tube defects (NTDs), including anencephaly and spina bifida, are common major
malformations of fetal development resulting from incomplete closure of the neural tube …

Disrupted extracellular matrix and cell cycle genes in autism-associated Shank3 deficiency are targeted by lithium

V Ioannidis, R Pandey, HF Bauer, M Schön… - Molecular …, 2024 - nature.com
The Shank3 gene encodes the major postsynaptic scaffolding protein SHANK3. Its mutation
causes a syndromic form of autism spectrum disorder (ASD): Phelan-McDermid Syndrome …