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1

Ashitomi, Honoka, Tadashi Nakagawa, Makiko Nakagawa, and Toru Hosoi. "Cullin-RING Ubiquitin Ligases in Neurodevelopment and Neurodevelopmental Disorders." Biomedicines 13, no. 4 (2025): 810. https://doi.org/10.3390/biomedicines13040810.

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Ubiquitination is a dynamic and tightly regulated post-translational modification essential for modulating protein stability, trafficking, and function to preserve cellular homeostasis. This process is orchestrated through a hierarchical enzymatic cascade involving three key enzymes: the E1 ubiquitin-activating enzyme, the E2 ubiquitin-conjugating enzyme, and the E3 ubiquitin ligase. The final step of ubiquitination is catalyzed by the E3 ubiquitin ligase, which facilitates the transfer of ubiquitin from the E2 enzyme to the substrate, thereby dictating which proteins undergo ubiquitination. E
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Millevert, Charissa, Nicholas Vidas-Guscic, Liesbeth Vanherp, et al. "Resting-State Functional MRI and PET Imaging as Noninvasive Tools to Study (Ab)Normal Neurodevelopment in Humans and Rodents." Journal of Neuroscience 43, no. 49 (2023): 8275–93. http://dx.doi.org/10.1523/jneurosci.1043-23.2023.

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Neurodevelopmental disorders (NDDs) are a group of complex neurologic and psychiatric disorders. Functional and molecular imaging techniques, such as resting-state functional magnetic resonance imaging (rs-fMRI) and positron emission tomography (PET), can be used to measure network activity noninvasively and longitudinally during maturation in both humans and rodent models. Here, we review the current knowledge on rs-fMRI and PET biomarkers in the study of normal and abnormal neurodevelopment, including intellectual disability (ID; with/without epilepsy), autism spectrum disorder (ASD), and at
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Bradshaw, Nicholas J., William Hennah, and Dinesh C. Soares. "NDE1 and NDEL1: twin neurodevelopmental proteins with similar ‘nature’ but different ‘nurture’." BioMolecular Concepts 4, no. 5 (2013): 447–64. http://dx.doi.org/10.1515/bmc-2013-0023.

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AbstractNuclear distribution element 1 (NDE1, also known as NudE) and NDE-like 1 (NDEL1, also known as Nudel) are paralogous proteins essential for mitosis and neurodevelopment that have been implicated in psychiatric and neurodevelopmental disorders. The two proteins possess high sequence similarity and have been shown to physically interact with one another. Numerous lines of experimental evidence in vivo and in cell culture have demonstrated that these proteins share common functions, although instances of differing functions between the two have recently emerged. We review the key aspects
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Tikka, Sai Krishna. "Translational significance of neurodevelopment underpinned ‘neurophysiological-cognitive’ biomarkers in schizophrenia." Indian Journal of Psychiatry 67, no. 5 (2025): 482–86. https://doi.org/10.4103/indianjpsychiatry.indianjpsychiatry_310_25.

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Biomarker research helps validate diagnostic entities that are otherwise based on pure clinical sense and prone to subjectivity bias. Biomarker research in the field of schizophrenia and psychoses dates back to more than a century. However, the focus on ‘translational’ biomarkers in schizophrenia is a more recent one, dating to the turn of the last century. The translational biomarker research in schizophrenia encompasses diagnostic markers, endophenotypes, and theranostic markers. A prime objective of translational biomarkers in schizophrenia is to enhance the field of identification of high-
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Magai, Dorcas N., Jaya Chandna, Marie-Laure Volvert, et al. "The PRECISE-DYAD Neurodevelopmental substudy protocol: neurodevelopmental risk in children of mothers with pregnancy complications." Wellcome Open Research 8 (August 5, 2024): 508. http://dx.doi.org/10.12688/wellcomeopenres.19689.2.

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Background Over 250 million children are not reaching their developmental potential globally. The impact of prenatal factors and their interplay with postnatal environmental factors on child neurodevelopment, is still unclear—particularly in low- and middle-income settings. This study aims to understand the impact of pregnancy complications as well as environmental, psychosocial, and biological predictors on neurodevelopmental trajectories. Methods This is an observational cohort study of female and male children (≈3,950) born to women (≈4,200) with and without pregnancy complications (pregnan
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Magai, Dorcas N., Jaya Chandna, Marie-Laure Volvert, et al. "The Precise-DYAD Neurodevelopmental substudy protocol: neurodevelopmental risk in children of mothers with placental complications." Wellcome Open Research 8 (November 9, 2023): 508. http://dx.doi.org/10.12688/wellcomeopenres.19689.1.

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Background: Over 250 million children are not reaching their developmental potential globally. The impact of prenatal factors then influenced by postnatal environmental factors on child neurodevelopment, is still unclear—particularly in low- and middle-income settings. This study aims to understand the impact of placental complications as well as environmental, psychosocial, and biological predictors on neurodevelopmental trajectories. Methods: This is an observational cohort study of female and male children (≈3,950) born to women (≈4,200) with and without placental disorders (pregnancy-induc
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Martino, Sabata, Ilaria di Girolamo, Antonio Orlacchio, Alessandro Datti, and Aldo Orlacchio. "MicroRNA Implications across Neurodevelopment and Neuropathology." Journal of Biomedicine and Biotechnology 2009 (2009): 1–13. http://dx.doi.org/10.1155/2009/654346.

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MicroRNAs (miRNAs) have rapidly emerged as biologically important mediators of posttranscriptional and epigenetic regulation in both plants and animals. miRNAs function through a variety of mechanisms including mRNA degradation and translational repression; additionally, miRNAs may guide gene expression by serving as transcription factors. miRNAs are highly expressed in human brain. Tissue and cell type-specific enrichments of certain miRNAs within the nervous system argue for a biological significance during neurodevelopmental stages. On the other hand, a large number of studies have reported
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Mudd, Austin T., and Ryan N. Dilger. "Early-Life Nutrition and Neurodevelopment: Use of the Piglet as a Translational Model." Advances in Nutrition: An International Review Journal 8, no. 1 (2017): 92–104. http://dx.doi.org/10.3945/an.116.013243.

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9

Nash, Kevin R., Umesh K. Jinwal, and Krishna Moorthi Bhat. "UBE3A: Bridging the gap between neurodevelopment, neural function, and neurodegenerative woes." Journal of Alzheimer’s Disease 102, no. 1 (2024): 3–10. http://dx.doi.org/10.1177/13872877241283680.

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Post-translational modifications (PTMs) of proteins play a significant role in normal protein function but can also be instrumental in disease pathogenesis. One critical yet under-studied PTM in disease is ubiquitination. Ubiquitin chain addition and substrate specificity are determined by a large spectrum of ubiquitin-ligating and -modifying enzymes, E3 ligases, whose expression levels and activities are tightly regulated in a cell-specific manner. While most ubiquitin chains can target proteins for proteasomal degradation, ubiquitination can contribute to other functions within the cell, inc
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Mignani, Luca, Barbara Gnutti, Daniela Zizioli, and Dario Finazzi. "Coenzyme a Biochemistry: From Neurodevelopment to Neurodegeneration." Brain Sciences 11, no. 8 (2021): 1031. http://dx.doi.org/10.3390/brainsci11081031.

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Coenzyme A (CoA) is an essential cofactor in all living organisms. It is involved in a large number of biochemical processes functioning either as an activator of molecules with carbonyl groups or as a carrier of acyl moieties. Together with its thioester derivatives, it plays a central role in cell metabolism, post-translational modification, and gene expression. Furthermore, recent studies revealed a role for CoA in the redox regulation by the S-thiolation of cysteine residues in cellular proteins. The intracellular concentration and distribution in different cellular compartments of CoA and
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11

Sonuga‐Barke, Edmund J. S. "Paradigm ‘flipping’ to reinvigorate translational science: Outlining a neurodevelopmental science framework from a ‘neurodiversity’ perspective." Journal of Child Psychology and Psychiatry 64, no. 10 (2023): 1405–8. http://dx.doi.org/10.1111/jcpp.13886.

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For the most part the science of neuro‐developmental conditions, such as autism and ADHD, is conducted within a framework defined by a paradigm that assumes that these expressions of neuro‐developmental variation are disorders resulting from brain dysfunction. the translational goal being to identify, then target, the source of such dysfunction to reduce disorder and resolve impairment. By shifting this perspective to one that defines such conditions as divergence in thought and action underpinned by brain atypicality, the neurodiversity paradigm offers a fresh scientific vision shaped by a ne
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12

Liu, Junyan, Fengyan Zhao, and Yi Qu. "Lactylation: A Novel Post-Translational Modification with Clinical Implications in CNS Diseases." Biomolecules 14, no. 9 (2024): 1175. http://dx.doi.org/10.3390/biom14091175.

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Lactate, an important metabolic product, provides energy to neural cells during energy depletion or high demand and acts as a signaling molecule in the central nervous system. Recent studies revealed that lactate-mediated protein lactylation regulates gene transcription and influences cell fate, metabolic processes, inflammation, and immune responses. This review comprehensively examines the regulatory roles and mechanisms of lactylation in neurodevelopment, neuropsychiatric disorders, brain tumors, and cerebrovascular diseases. This analysis indicates that lactylation has multifaceted effects
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Ye, Peng, Wangzheqi Zhang, Yan Liao, Ting Hu, and Chun-Lei Jiang. "Unlocking the brain's code: The crucial role of post-translational modifications in neurodevelopment and neurological function." Physics of Life Reviews 53 (July 2025): 187–214. https://doi.org/10.1016/j.plrev.2025.03.011.

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14

Martina, Rincic, Brecevic Lukrecija, Liehr Thomas, Gotovac Jercic Kristina, Doder Ines, and Borovecki Fran. "Customized Chromosomal Microarrays for Neurodevelopmental Disorders." Genes 16, no. 8 (2025): 868. https://doi.org/10.3390/genes16080868.

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Background: Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), are genetically complex and often linked to structural genomic variations such as copy number variants (CNVs). Current diagnostic strategies face challenges in interpreting the clinical significance of such variants. Methods: We developed a customized, gene-oriented chromosomal microarray (CMA) targeting 6026 genes relevant to neurodevelopment, aiming to improve diagnostic yield and candidate gene prioritization. A total of 39 patients with unexplained developmental delay, intellectual disability, and/or
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15

Fang, Kun, Dong Liu, Salil S. Pathak, et al. "Disruption of Circadian Rhythms by Ambient Light during Neurodevelopment Leads to Autistic-like Molecular and Behavioral Alterations in Adult Mice." Cells 10, no. 12 (2021): 3314. http://dx.doi.org/10.3390/cells10123314.

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Although circadian rhythms are thought to be essential for maintaining body health, the effects of chronic circadian disruption during neurodevelopment remain elusive. Here, using the “Short Day” (SD) mouse model, in which an 8 h/8 h light/dark (LD) cycle was applied from embryonic day 1 to postnatal day 42, we investigated the molecular and behavioral changes after circadian disruption in mice. Adult SD mice fully entrained to the 8 h/8 h LD cycle, and the circadian oscillations of the clock proteins, PERIOD1 and PERIOD2, were disrupted in the suprachiasmatic nucleus and the hippocampus of th
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16

Xu, Jie, and Zhexing Wen. "Brain Organoids: Studying Human Brain Development and Diseases in a Dish." Stem Cells International 2021 (September 9, 2021): 1–16. http://dx.doi.org/10.1155/2021/5902824.

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With the rapid development of stem cell technology, the advent of three-dimensional (3D) cultured brain organoids has opened a new avenue for studying human neurodevelopment and neurological disorders. Brain organoids are stem-cell-derived 3D suspension cultures that self-assemble into an organized structure with cell types and cytoarchitectures recapitulating the developing brain. In recent years, brain organoids have been utilized in various aspects, ranging from basic biology studies, to disease modeling, and high-throughput screening of pharmaceutical compounds. In this review, we overview
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Shevkoplyas, Danilo, Yen My Vuu, James R. Davie, and Mojgan Rastegar. "The Chromatin Structure at the MECP2 Gene and In Silico Prediction of Potential Coding and Non-Coding MECP2 Splice Variants." International Journal of Molecular Sciences 23, no. 24 (2022): 15643. http://dx.doi.org/10.3390/ijms232415643.

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Methyl CpG binding protein 2 (MeCP2) is an epigenetic reader that binds to methylated CpG dinucleotides and regulates gene transcription. Mecp2/MECP2 gene has 4 exons, encoding for protein isoforms MeCP2E1 and MeCP2E2. MeCP2 plays key roles in neurodevelopment, therefore, its gain- and loss-of-function mutations lead to neurodevelopmental disorders including Rett Syndrome. Here, we describe the structure, functional domains, and evidence support for potential additional alternatively spliced MECP2 transcripts and protein isoforms. We conclude that NCBI MeCP2 isoforms 3 and 4 contain certain Me
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18

Tan, Hao Yang. "Cognitive Dysfunction in Schizophrenia: A Perspective from the Clinic to Genetic Brain Mechanisms." Annals of the Academy of Medicine, Singapore 38, no. 5 (2009): 420–24. http://dx.doi.org/10.47102/annals-acadmedsg.v38n5p420.

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Schizophrenia is a brain disease with differing symptomatic presentations, outcomes, and complex genetic mechanisms. A selection of recent work integrating clinical observations, human brain imaging and genetics will be reviewed. While the mechanics of brain dysfunction in schizophrenia remains to be well understood, the emerging evidence suggests that a number of interacting genetic mechanisms in dopaminergic and glutamatergic systems affect fundamental disease-related cognitive brain processes and may do so early in disease neurodevelopment. The availability of new imaging and genetic techno
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19

Keenan, Kate, Thad Q. Bartlett, Mark Nijland, Jesse S. Rodriguez, Peter W. Nathanielsz, and Nicole R. Zürcher. "Poor nutrition during pregnancy and lactation negatively affects neurodevelopment of the offspring: evidence from a translational primate model." American Journal of Clinical Nutrition 98, no. 2 (2013): 396–402. http://dx.doi.org/10.3945/ajcn.112.040352.

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Ausderau, Karla, Sabrina Kabakov, Elaina Razo, et al. "Neonatal Development in Prenatally Zika Virus-Exposed Infant Macaques with Dengue Immunity." Viruses 13, no. 9 (2021): 1878. http://dx.doi.org/10.3390/v13091878.

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Infants exposed to Zika virus (ZIKV) prenatally may develop birth defects, developmental deficits, or remain asymptomatic. It is unclear why some infants are more affected than others, although enhancement of maternal ZIKV infection via immunity to an antigenically similar virus, dengue virus (DENV), may play a role. We hypothesized that DENV immunity may worsen prenatal ZIKV infection and developmental deficits in offspring. We utilized a translational macaque model to examine how maternal DENV immunity influences ZIKV-exposed infant macaque neurodevelopment in the first month of life. We ino
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Licitra, Rosario, Maria Marchese, Valentina Naef, et al. "A Review on the Bioactivity of Cannabinoids on Zebrafish Models: Emphasis on Neurodevelopment." Biomedicines 10, no. 8 (2022): 1820. http://dx.doi.org/10.3390/biomedicines10081820.

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For centuries, the cannabis plant has been used as a source of food, fiber, and medicine. Recently, scientific interest in cannabis has increased considerably, as its bioactive compounds have shown promising potential in the treatment of numerous musculoskeletal and neurological diseases in humans. However, the mechanisms that underlie its possible effects on neurodevelopment and nervous-system functioning remain poorly understood and need to be further investigated. Although the bulk of research on cannabis and cannabinoids is based on in vitro or rodent models, the zebrafish has now emerged
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Lossi, Laura, Claudia Castagna, Alberto Granato, and Adalberto Merighi. "The Reeler Mouse: A Translational Model of Human Neurological Conditions, or Simply a Good Tool for Better Understanding Neurodevelopment?" Journal of Clinical Medicine 8, no. 12 (2019): 2088. http://dx.doi.org/10.3390/jcm8122088.

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The first description of the Reeler mutation in mouse dates to more than fifty years ago, and later, its causative gene (reln) was discovered in mouse, and its human orthologue (RELN) was demonstrated to be causative of lissencephaly 2 (LIS2) and about 20% of the cases of autosomal-dominant lateral temporal epilepsy (ADLTE). In both human and mice, the gene encodes for a glycoprotein referred to as reelin (Reln) that plays a primary function in neuronal migration during development and synaptic stabilization in adulthood. Besides LIS2 and ADLTE, RELN and/or other genes coding for the proteins
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Lerman, Caryn. "Preclinical Data Elucidate Molecular and Neural Mechanisms of Perinatal Nicotine Effects on Neurodevelopment and Behavior: Translational Opportunities and Implications." Neuropsychopharmacology 35, no. 12 (2010): 2322–23. http://dx.doi.org/10.1038/npp.2010.147.

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Wang, Shunqi, Liangjing Pan, Chong Sun, Chaolin Ma, and Haili Pan. "Balancing Microglial Density and Activation in Central Nervous System Development and Disease." Current Issues in Molecular Biology 47, no. 5 (2025): 344. https://doi.org/10.3390/cimb47050344.

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Microglia, the resident immune cells of the central nervous system, play multifaceted roles in both health and disease. During development, they regulate neurogenesis and refine neural circuits through synaptic pruning. In adulthood, microglia maintain homeostasis and dynamically respond to pathological insults, where they contribute to responding to neuroinflammatory challenges. This review summarizes microglial contributions to neurodevelopment and also outlines their function across various neurodegenerative diseases, such as Alzheimer’s disease, Parkinson’s disease, Huntington’s disease, a
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Mou, Ta-Chung, Malcolm Lane, Derek DC Ireland, Sarah M. Clark, and Leonardo H. Tonelli. "Neuroinflammatory Signatures of Complement Component 4 in the Subventricular Zone of Autism Spectrum Disorder and Schizophrenia." Journal of Immunology 208, no. 1_Supplement (2022): 162.09. http://dx.doi.org/10.4049/jimmunol.208.supp.162.09.

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Abstract Early inflammatory insults are the most recognized environmental risk factor associated with neurodevelopmental psychiatric disorders. The subventricular zone (SVZ) is a region heavily involved in neurodevelopment and neuroimmune interactions through the lifespan. Complement component 4 (C4), a classical molecule involved in inflammatory responses, has been associated with schizophrenia (SZ) by genetic studies. However, whether C4 is involved in other neurodevelopmental disorders, such as autism (ASD), is a matter of current studies. Moreover, while C4 in SZ has been studied in the co
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Zhou, Y., F. Dong, T. A. Lanz, et al. "Interactome analysis reveals ZNF804A, a schizophrenia risk gene, as a novel component of protein translational machinery critical for embryonic neurodevelopment." Molecular Psychiatry 23, no. 4 (2017): 952–62. http://dx.doi.org/10.1038/mp.2017.166.

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Joung, Sangyun, Joanne E. Fil, Anne B. Heckmann, Anne S. Kvistgaard, and Ryan N. Dilger. "Early-Life Supplementation of Bovine Milk Osteopontin Supports Neurodevelopment and Influences Exploratory Behavior." Nutrients 12, no. 8 (2020): 2206. http://dx.doi.org/10.3390/nu12082206.

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Introduction: Osteopontin (OPN) is a whey protein found at high concentration in human milk and is involved in processes such as bone cell proliferation and differentiation. Milk OPN has shown to be involved in various aspects of development, including the immune system and gut health. However, the influence of dietary bovine milk OPN inclusion on brain and cognitive development has not been studied extensively until recently. This research examines whether dietary supplementation of bovine milk OPN supports brain and cognitive development in the translational pig model. Methods: From postnata
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Tanim, K. M., Alisha Holtzhausen, Aashis Thapa, Justus M. Huelse, Douglas K. Graham, and H. Shelton Earp. "MERTK Inhibition as a Targeted Novel Cancer Therapy." International Journal of Molecular Sciences 25, no. 14 (2024): 7660. http://dx.doi.org/10.3390/ijms25147660.

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In this issue honoring the contributions of Greg Lemke, the Earp and Graham lab teams discuss several threads in the discovery, action, signaling, and translational/clinical potential of MERTK, originally called c-mer, a member of the TYRO3, AXL, and MERTK (TAM) family of receptor tyrosine kinases. The 30-year history of the TAM RTK family began slowly as all three members were orphan RTKs without known ligands and/or functions when discovered by three distinct alternate molecular cloning strategies in the pre-genome sequencing era. The pace of understanding their physiologic and pathophysiolo
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Gusar, Vladislava, Natalia Kan, Anastasia Leonova, et al. "Non-Invasive Assessment of Neurogenesis Dysfunction in Fetuses with Early-Onset Growth Restriction Using Fetal Neuronal Exosomes Isolating from Maternal Blood: A Pilot Study." International Journal of Molecular Sciences 26, no. 4 (2025): 1497. https://doi.org/10.3390/ijms26041497.

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The vector of modern obstetrics is aimed at finding ways to predict various placenta-associated complications, including those associated with neuronal dysfunction on in fetal growth restriction (FGR). The technology of fetal neuronal exosome (FNE) isolation from the maternal bloodstream opens up unique opportunities for detecting early signs of fetal brain damage. Using this method, FNEs were isolated from the blood of pregnant women with and without early-onset FGR, and the expression of a number of proteins in their composition was assessed (Western blotting). Significant changes in the lev
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Mensah-Brown, Kobina G., James Lim, Dennis Jgamadze, et al. "96101 Temporal Evolution of Neural Activity in Human Brain Organoids." Journal of Clinical and Translational Science 5, s1 (2021): 23. http://dx.doi.org/10.1017/cts.2021.464.

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ABSTRACT IMPACT: This study will provide the essential characterization of intrinsic neural activity in human brain organoids, both at the single cell and network levels, to harness for translational purposes. OBJECTIVES/GOALS: Brain organoids are 3D, stem cell-derived neural tissues that recapitulate neurodevelopment. However, to levy their full translational potential, a deeper understanding of their intrinsic neural activity is essential. Here, we present our preliminary analysis of maturing neural activity in human forebrain organoids. METHODS/STUDY POPULATION: Forebrain organoids were gen
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Kennon-McGill, Stefanie, Lindsey Sward, Clare Nesmith, and Laura P. James. "4022 Recruiting hidden and sensitive populations: methods for recruitment of pregnant women who regularly use cannabinoids." Journal of Clinical and Translational Science 4, s1 (2020): 35. http://dx.doi.org/10.1017/cts.2020.142.

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OBJECTIVES/GOALS: Prenatal cannabinoid use is increasing and more studies are needed to describe the neurodevelopmental impact on the fetus. However, pregnant cannabinoid users are a “hidden population,” which makes identification of these individuals for research difficult. Our study will employ three methods of recruitment and evaluate the success of each method. METHODS/STUDY POPULATION: We will recruit a total of 40 women in the third trimester of pregnancy who regularly use cannabinoid products thought to contain tetrahydrocannabinol (THC) and/or cannabidiol (CBD) throughout their pregnan
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Clawson, Brittany C., Jaclyn Durkin, and Sara J. Aton. "Form and Function of Sleep Spindles across the Lifespan." Neural Plasticity 2016 (2016): 1–16. http://dx.doi.org/10.1155/2016/6936381.

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Since the advent of EEG recordings, sleep spindles have been identified as hallmarks of non-REM sleep. Despite a broad general understanding of mechanisms of spindle generation gleaned from animal studies, the mechanisms underlying certain features of spindles in the human brain, such as “global” versus “local” spindles, are largely unknown. Neither the topography nor the morphology of sleep spindles remains constant throughout the lifespan. It is likely that changes in spindle phenomenology during development and aging are the result of dramatic changes in brain structure and function. Across
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Savino, Rosa, Marco Carotenuto, Anna Nunzia Polito, et al. "Analyzing the Potential Biological Determinants of Autism Spectrum Disorder: From Neuroinflammation to the Kynurenine Pathway." Brain Sciences 10, no. 9 (2020): 631. http://dx.doi.org/10.3390/brainsci10090631.

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Autism Spectrum Disorder (ASD) etiopathogenesis is still unclear and no effective preventive and treatment measures have been identified. Research has focused on the potential role of neuroinflammation and the Kynurenine pathway; here we review the nature of these interactions. Pre-natal or neonatal infections would induce microglial activation, with secondary consequences on behavior, cognition and neurotransmitter networks. Peripherally, higher levels of pro-inflammatory cytokines and anti-brain antibodies have been identified. Increased frequency of autoimmune diseases, allergies, and recur
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Magalhães, D., F. Ferreira, T. Ferreira, et al. "Influenza and schizophrenia: How can we shed a light in the new virus from an old association?" European Psychiatry 64, S1 (2021): S168. http://dx.doi.org/10.1192/j.eurpsy.2021.447.

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IntroductionCOVID-19 raises serious concerns regarding its unknown consequences for health, including psychiatric long term outcomes. Historically, influenza virus has been responsible for pandemics associated with schizophrenia. Epidemiological studies showed increased risk for schizophrenia in children of mothers exposed to the 1957 influenza A2 pandemic. Controversy remains concerning the mechanisms of pathogenesis underlying this risk.ObjectivesWe aim to review the evidence for the association between influenza infection and schizophrenia risk, the possible pathogenic mechanisms underlying
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Cuthbert, Bruce N. "Research Domain Criteria (RDoC): Progress and Potential." Current Directions in Psychological Science 31, no. 2 (2022): 107–14. http://dx.doi.org/10.1177/09637214211051363.

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The National Institute of Mental Health (NIMH) addressed in its 2008 Strategic Plan an emerging concern that the current diagnostic system was hampering translational research, as accumulating data suggested that the system’s disorder categories constituted heterogeneous syndromes rather than specific diseases. However, established practices in peer review placed high priority on that system’s disorders in evaluating grant applications for mental illness. To provide guidelines for alternative study designs, NIMH set a goal to develop new ways of studying psychopathology based on dimensions of
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Vandenberg, Gregory G., Aasritha Thotakura, and Angela L. Scott. "Mitochondrial bioenergetics of astrocytes in Fragile X syndrome: new perspectives on culture conditions and sex effects." American Journal of Physiology-Cell Physiology 322, no. 2 (2022): C125—C135. http://dx.doi.org/10.1152/ajpcell.00130.2021.

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Fragile X syndrome (FXS) is a genetic disorder that is characterized by a range of cognitive and behavioral deficits, including mild-moderate intellectual disability. The disease is characterized by an X-linked mutation of the Fmr1 gene, which causes silencing of the gene coding for fragile X mental retardation protein (FMRP), a translational regulator integral for neurodevelopment. Mitochondrial dysfunction has been recently associated with FXS, with reports of increases in oxidative stress markers, reactive oxygen species, and lipid peroxidation being present in the brain tissue. Astrocytes,
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Kolesnik, Anna May, Emily Jane Harrison Jones, Shruti Garg, et al. "Early development of infants with neurofibromatosis type 1: a case series." Molecular Autism 8, no. 1 (2017): 62. https://doi.org/10.1186/s13229-017-0178-0.

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<strong>Background: </strong>Prospective studies of infants at familial risk for autism spectrum disorder (ASD) have yielded insights into the earliest signs of the disorder but represent heterogeneous samples of unclear aetiology. Complementing this approach by studying cohorts of infants with monogenic syndromes associated with high rates of ASD offers the opportunity to elucidate the factors that lead to ASD.<strong>Methods: </strong>We present the first report from a prospective study of ten 10-month-old infants with neurofibromatosis type 1 (NF1), a monogenic disorder with high prevalence
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Choe, Han Kyoung, and Jun Cho. "Comprehensive Genome-Wide Approaches to Activity-Dependent Translational Control in Neurons." International Journal of Molecular Sciences 21, no. 5 (2020): 1592. http://dx.doi.org/10.3390/ijms21051592.

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Activity-dependent regulation of gene expression is critical in experience-mediated changes in the brain. Although less appreciated than transcriptional control, translational control is a crucial regulatory step of activity-mediated gene expression in physiological and pathological conditions. In the first part of this review, we overview evidence demonstrating the importance of translational controls under the context of synaptic plasticity as well as learning and memory. Then, molecular mechanisms underlying the translational control, including post-translational modifications of translatio
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39

Manzini, Arianna, Emily J.H. Jones, Tony Charman, Mayada Elsabbagh, Mark H. Johnson, and Ilina Singh. "Ethical dimensions of translational developmental neuroscience research in autism." August 18, 2021. https://doi.org/10.1111/jcpp.13494.

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Since the 1990s, increasing research has been devoted to the identification of biomarkers for autism to help attain more objective diagnosis; enable early prediction of prognosis; and guide individualized intervention options. Early studies focused on the identification of genetic variants associated with autism, but more recently, research has expanded to investigate neurodevelopmental markers. While ethicists have extensively discussed issues around advances in autism genomics, much less ethical scrutiny has focused on research on early neurodevelopment and on the interventions being develop
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40

Hale, Maya, and Greg J. Bashaw. "Emerging roles for E3 ubiquitin ligases in neural development and disease." Frontiers in Cell and Developmental Biology 13 (May 27, 2025). https://doi.org/10.3389/fcell.2025.1557653.

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Neurodevelopment is an intricate process with highly regulated, overlapping stages including neuronal differentiation and axon guidance. Aberrations during these and other stages are tied to the etiology of neurodevelopmental disorders like Autism Spectrum Disorder, Angelman Syndrome, and X-linked Intellectual Disability. Ubiquitination is a dynamic and highly reversible post-translational modification conferred by E3 ubiquitin ligases. Recent discoveries have advanced the understanding of how substrate ubiquitination can guide protein localization, drive protein degradation, and alter protein
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Park, Myung Hee, Rajesh Kumar Kar, Siddharth Banka, Alban Ziegler, and Wendy K. Chung. "Post-translational formation of hypusine in eIF5A: implications in human neurodevelopment." Amino Acids, July 17, 2021. http://dx.doi.org/10.1007/s00726-021-03023-6.

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AbstractHypusine [Nε-(4-amino-2-hydroxybutyl)lysine] is a derivative of lysine that is formed post-translationally in the eukaryotic initiation factor 5A (eIF5A). Its occurrence at a single site in one cellular protein defines hypusine synthesis as one of the most specific post-translational modifications. Synthesis of hypusine involves two enzymatic steps: first, deoxyhypusine synthase (DHPS) cleaves the 4-aminobutyl moiety of spermidine and transfers it to the ε-amino group of a specific lysine residue of the eIF5A precursor protein to form an intermediate, deoxyhypusine [Nε-(4-aminobutyl)ly
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42

Gao, Minglei, Yang Shen, Ping Yang, Chang Yuan, Yanan Sun, and Zipu Li. "Transcriptomics integrated with metabolomics reveals partial molecular mechanisms of nutritional risk and neurodevelopment in children with congenital heart disease." Frontiers in Cardiovascular Medicine 11 (August 9, 2024). http://dx.doi.org/10.3389/fcvm.2024.1414089.

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PurposeTo explore molecular mechanisms affecting nutritional risk and neurodevelopment in children with congenital heart disease (CHD) by combining transcriptome and metabolome analysis.MethodsA total of 26 blood and serum samples from 3 groups of children with CHD low nutritional risk combined with normal neurodevelopment (group A), low nutritional risk combined with neurodevelopmental disorders (group B) and high nutritional risk combined with normal neurodevelopment (group C) were analyzed by transcriptome and metabolomics to search for differentially expressed genes (DEGs) and metabolites
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Sutkus, Loretta Teresa, Zimu Li, and Ryan Neil Dilger. "Establishing the pig as a translational animal model for neurodevelopment." Translational Neuroscience 16, no. 1 (2025). https://doi.org/10.1515/tnsci-2025-0369.

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Abstract Background Within the last few decades, the domestic pig has emerged as an advantageous biomedical animal model due to a vast number of similarities in realms of development and neuroanatomical features. Even so, a major challenge remains in how to translate time between the pig and human. Previously, researchers have developed a Translating Mammalian Time model that estimates the timing of 95 neurodevelopmental events across 9 mammalian species. By identifying the timing of these various events, one can include an additional animal into the model and assign a unique species score to
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Liu, Juan, Huiling Guo, Jingyu Yang, et al. "Visual cortex repetitive transcranial magnetic stimulation (rTMS) reversing neurodevelopmental impairments in adolescents with major psychiatric disorders (MPDs): A cross‐species translational study." CNS Neuroscience & Therapeutics, September 18, 2023. http://dx.doi.org/10.1111/cns.14427.

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AbstractAimsNeurodevelopmental impairments are closely linked to the basis of adolescent major psychiatric disorders (MPDs). The visual cortex can regulate neuroplasticity throughout the brain during critical periods of neurodevelopment, which may provide a promising target for neuromodulation therapy. This cross‐species translational study examined the effects of visual cortex repetitive transcranial magnetic stimulation (rTMS) on neurodevelopmental impairments in MPDs.MethodsVisual cortex rTMS was performed in both adolescent methylazoxymethanol acetate (MAM) rats and patients with MPDs. Fun
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Yang, Jingyu, Huiling Guo, Aoling Cai, et al. "Aberrant Hippocampal Development in Early-onset Mental Disorders and Promising Interventions: Evidence from a Translational Study." Neuroscience Bulletin, December 23, 2023. http://dx.doi.org/10.1007/s12264-023-01162-2.

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AbstractEarly-onset mental disorders are associated with disrupted neurodevelopmental processes during adolescence. The methylazoxymethanol acetate (MAM) animal model, in which disruption in neurodevelopmental processes is induced, mimics the abnormal neurodevelopment associated with early-onset mental disorders from an etiological perspective. We conducted longitudinal structural magnetic resonance imaging (MRI) scans during childhood, adolescence, and adulthood in MAM rats to identify specific brain regions and critical windows for intervention. Then, the effect of repetitive transcranial ma
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Ramos-Fernández, Eva, Macarena S. Arrázola, Carolina A. Oliva, Sebastián B. Arredondo, Lorena Varela-Nallar та Nibaldo C. Inestrosa. "Wnt5a promotes hippocampal postsynaptic development and GluN2B-induced expression via the eIF2α HRI kinase". Scientific Reports 11, № 1 (2021). http://dx.doi.org/10.1038/s41598-021-86708-y.

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AbstractWnt signaling plays a key role in neurodevelopment and neuronal maturation. Specifically, Wnt5a stimulates postsynaptic assemblies, increases glutamatergic neurotransmission and, through calcium signaling, generates nitric oxide (NO). Trying to unveil the molecular pathway triggering these postsynaptic effects, we found that Wnt5a treatment induces a time-dependent increases in the length of the postsynaptic density (PSD), elicits novel synaptic contacts and facilitates F-actin flow both in in vitro and ex vivo models. These effects were partially abolished by the inhibition of the Hem
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Crombie, Gabrielle K., Hannah K. Palliser, Julia C. Shaw, Bethany A. Hanley, Roisin A. Moloney, and Jonathan J. Hirst. "Prenatal stress induces translational disruption associated with myelination deficits." Developmental Neuroscience, March 31, 2023. http://dx.doi.org/10.1159/000530282.

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Background: Disruptions to neurodevelopment is known to be linked to behavioural disorders in childhood and into adulthood. The fetal brain is extremely vulnerable to stimuli that alter inhibitory GABAergic pathways and critical myelination processes programming long-term neurobehavioural disruption. The maturation of the GABAergic system into the major inhibitory pathway in the brain, and the development of oligodendrocytes into mature cells capable of producing myelin are integral components of optimal neurodevelopment. The current study aimed to elucidate prenatal stress-induced mechanisms
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Dumrongprechachan, Vasin, Ryan B. Salisbury, Lindsey Butler, Matthew L. MacDonald, and Yevgenia Kozorovitskiy. "Dynamic proteomic and phosphoproteomic atlas of corticostriatal axons in neurodevelopment." eLife 11 (October 14, 2022). http://dx.doi.org/10.7554/elife.78847.

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Mammalian axonal development begins in embryonic stages and continues postnatally. After birth, axonal proteomic landscape changes rapidly, coordinated by transcription, protein turnover, and post-translational modifications. Comprehensive profiling of axonal proteomes across neurodevelopment is limited, with most studies lacking cell-type and neural circuit specificity, resulting in substantial information loss. We create a Cre-dependent APEX2 reporter mouse line and map cell-type specific proteome of corticostriatal projections across postnatal development. We synthesize analysis frameworks
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Cryan, John F. "Microbiome and Brain Development: A Tale of Two Systems." Annals of Nutrition and Metabolism, March 10, 2025, 1–19. https://doi.org/10.1159/000544950.

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Background: For the past two decades there has been a growing appreciation of the role that the microbiota (the trillions of microorganisms within and on our bodies) plays as one of the key regulators of gut-brain function and has led to the appreciation of the importance of a distinct microbiota-gut-brain axis across the lifespan but especially during neurodevelopment. Summary: The gut microbiota and its relevant metabolites interact with the immune and the central nervous systems during critical temporal windows of development. These critical developmental windows perinatally (during the fir
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Acosta-Baena, Natalia. "Natalia Acosta-Baena: The genetic gap between neurodevelopment and neurodegeneration." Genomic Psychiatry, November 14, 2024, 1–3. https://doi.org/10.61373/gp024k.0082.

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Dr. Natalia Acosta-Baena embodies the rare confluence of clinical and basic science expertise that modern neuroscience demands. As a physician-scientist at the University of Antioquia's Neurosciences Group, she combines her medical training with a master's in clinical epidemiology and doctoral studies in basic biomedical sciences, specializing in Genetics. Her groundbreaking work began with contributing to characterize the world's largest population affected by autosomal dominant genetic Alzheimer's disease (mutation E280A in PSEN1), establishing a foundation for numerous studies on biomarkers
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