Publications by authors named "Soraya O Sandoval"

The prefrontal cortex (PFC) is critical for myriad high-cognitive functions and is associated with several neuropsychiatric disorders. Here, using Patch-seq and single-nucleus multiomic analyses, we identified genes and regulatory networks governing the maturation of distinct neuronal populations in the PFC of rhesus macaque. We discovered that specific electrophysiological properties exhibited distinct maturational kinetics and identified key genes underlying these properties.

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FMR1 autosomal homolog 1 (FXR1) is an RNA-binding protein that belongs to the Fragile X-related protein (FXR) family. FXR1 is critical for development, as its loss of function is intolerant in humans and results in neonatal death in mice. Although FXR1 is expressed widely including the brain, functional studies on FXR1 have been mostly performed in cancer cells.

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Fragile X syndrome (FXS) is caused by epigenetic silencing of the X-linked fragile X messenger ribonucleoprotein 1 (FMR1) gene located on chromosome Xq27.3, which leads to the loss of its protein product, fragile X messenger ribonucleoprotein (FMRP). It is the most prevalent inherited form of intellectual disability and the highest single genetic cause of autism.

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Article Synopsis
  • - Human brain organoid models are valuable for researching brain development and function due to their ability to mimic human genetics and facilitate lab manipulation.
  • - There are ongoing concerns about the accuracy and reliability of these models, which need to be addressed to maximize their potential in science and medicine.
  • - The article reviews current techniques for analyzing these organoids, discusses existing challenges, and offers suggestions for improving consistency and precision in future research.
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Article Synopsis
  • FMRP deficiency causes fragile X syndrome (FXS), affecting prenatal brain development in humans and macaques.
  • FMRP is crucial for regulating essential genes, and its deficiency leads to mitochondrial dysfunctions and hyperexcitability in neurons derived from FXS patients.
  • Targeting mitochondrial dysfunction may offer a potential treatment strategy to mitigate the developmental issues associated with FMRP deficiency.
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Article Synopsis
  • BOMA is a machine-learning framework that aligns gene expression data between human brains and organoids, revealing developmental patterns.
  • It shows that human cortical organoids correspond more closely with specific brain regions, indicating that organoids retain region-specific developmental traits.
  • The framework integrates single-cell RNA sequencing data, identifies unique cell trajectories, and highlights specific genes related to brain functions, all of which have been validated through experimentation.
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