The microbiota–gut–brain axis and neurodevelopmental disorders

Q Wang, Q Yang, X Liu - Protein & Cell, 2023 - academic.oup.com
The gut microbiota has been found to interact with the brain through the microbiota–gut–
brain axis, regulating various physiological processes. In recent years, the impacts of the gut …

Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications

IS Rajan-Babu, E Dolzhenko, MA Eberle… - Nature Reviews …, 2024 - nature.com
Short tandem repeats (STRs) are a class of repetitive elements, composed of tandem arrays
of 1–6 base pair sequence motifs, that comprise a substantial fraction of the human genome …

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy

DL Fehlings, M Zarrei, W Engchuan, N Sondheimer… - Nature …, 2024 - nature.com
We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP)
and their biological parents. We classified 37 of 327 (11.3%) children as having …

The contributions of rare inherited and polygenic risk to ASD in multiplex families

M Cirnigliaro, TS Chang, SA Arteaga… - Proceedings of the …, 2023 - pnas.org
Autism spectrum disorder (ASD) has a complex genetic architecture involving contributions
from both de novo and inherited variation. Few studies have been designed to address the …

Single-cell genomics meets human genetics

ASE Cuomo, A Nathan, S Raychaudhuri… - Nature Reviews …, 2023 - nature.com
Single-cell genomic technologies are revealing the cellular composition, identities and
states in tissues at unprecedented resolution. They have now scaled to the point that it is …

Focusing on mitochondria in the brain: from biology to therapeutics

N Song, S Mei, X Wang, G Hu, M Lu - Translational neurodegeneration, 2024 - Springer
Mitochondria have multiple functions such as supplying energy, regulating the redox status,
and producing proteins encoded by an independent genome. They are closely related to the …

A full semantic toolbox is essential for autism research and practice to thrive

A Singer, A Lutz, J Escher, A Halladay - Autism Research, 2023 - Wiley Online Library
Individuals diagnosed with autism spectrum disorder (ASD) present with a highly diverse set
of challenges, disabilities, impairments and strengths. Recently, it has been suggested that …

CTNNB1 in neurodevelopmental disorders

W Zhuang, T Ye, W Wang, W Song, T Tan - Frontiers in Psychiatry, 2023 - frontiersin.org
CTNNB1 is the gene that encodes β-catenin which acts as a key player in the Wnt signaling
pathway and regulates cellular homeostasis. Most CTNNB1-related studies have been …

A genetic bridge between medicine and neurodiversity for autism

CS Leblond, T Rolland, E Barthome… - Annual Review of …, 2024 - annualreviews.org
Autism represents a large spectrum of diverse individuals with varying underlying genetic
architectures and needs. For some individuals, a single de novo or ultrarare genetic variant …

[HTML][HTML] Synergistic hyperactivation of both mTORC1 and mTORC2 underlies the neural abnormalities of PTEN-deficient human neurons and cortical organoids

NK Dhaliwal, OY Weng, X Dong, A Bhattacharya… - Cell Reports, 2024 - cell.com
Mutations in the phosphatase and tensin homolog (PTEN) gene are associated with severe
neurodevelopmental disorders. Loss of PTEN leads to hyperactivation of the mechanistic …