Data suggest that loss of Nf1 alters adult metabolism via effects during a critical period of nervous system development, and high-resolution respirometry on adult mitochondria revealed no differences in complex I/II function or fatty acid oxidation between nf1 mutants and controls.
This work shows that a DEAF1 mutation in human embryonic stem cells disrupts chromatin accessibility at neuronal gene loci, leading to significant transcriptional alterations, and identifies WNT signaling, TGFβ superfamily signaling, and cell cycle regulation as commonly dysregulated pathways across multiple ASD-associ...
Jonghun Kim, Museog Choe, W. Yang et al.· Science Advances· 1 citation
This review examines ASD from the perspective of lifelong neuronal vulnerability, highlighting how genetically diverse ASD-associated genes converge on common biological mechanisms that remain active beyond development.
A. Palacios-Muñoz· International Journal of Mol...· 0 citations
It is demonstrated that tmlhe deficiency disrupts carnitine biosynthesis, impairing energy and glycerophospholipid metabolism, which is critical for early neurogenesis, which may lead to impaired neural development and a synaptic E/I imbalance, ultimately causing ASD-like phenotypes.
Ji-Tong Li, Xiao-Tong Zhao, Jie-Ru Wei et al.· Progress in Neuro-psychophar...· 0 citations
PURPOSE
CDK19 (HGNC:19338) is a Mediator-associated kinase that regulates transcription during neurodevelopment. Although CDK19 variants have been linked to neurodevelopmental disorders, the full phenotypic spectrum and underlying pathogenic mechanisms remain incompletely defined. We aimed to further characterize clini...
Hyun Yong Koh, R. Sahu, Sung Dae Kim et al.· Genetics in Medicine· 0 citations
The data support a model that heterozygous loss of BRSK1 leads to a neurodevelopmental syndrome with variable phenotypes and indicates that the three individual-derived alleles provide only a partial rescue and fail to normalize NMJ morphology and Futsch levels, suggesting that they are partial loss-of-function alleles...
Ming-Xi Deng, Meng-Qi Ma, Vanessa A. Gomez et al.· American Journal of Human Ge...· 0 citations
The RUBCN-related disorders are established and expand as a clinically and molecularly distinct subset of autophagy-related diseases and enhances understanding of autophagy-related neurodevelopmental disorders and provides a foundation for future therapeutic investigations.
S. Efthymiou, K. Tabata, H. Dafsari et al.· medRxiv· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.
