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Related Concept Videos

Sex-linked Disorders01:43

Sex-linked Disorders

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Covalently Linked Protein Regulators02:04

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Proteins can undergo many types of post-translational modifications, often in response to changes in their environment. These modifications play an important role in the function and stability of these proteins. Covalently linked molecules include functional groups, such as methyl, acetyl, and phosphate groups, and also small proteins, such as ubiquitin. There are around 200 different types of covalent regulators that have been identified.
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Intrinsically disordered proteins are a group of proteins that do not fold into specific three-dimensional structures. Their structural flexibility allows them to complement ordered proteins to perform functions that are inaccessible to rigid structures. They are more common in eukaryotes than prokaryotes and may either be exclusively intrinsically disordered or hybrid proteins, consisting of a mix of ordered and disordered regions. The absence of a rigid structure in these proteins can be...
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The early endosome containing internalized molecules matures through transformations in its location, morphology, intraluminal pH, and membrane protein composition. Together, these changes result in a more acidic late endosome that contains multiple intraluminal vesicles; therefore, the late endosome is also called a multivesicular body (MVB).
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X-linked Traits

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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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Functional Groups

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Functional groups are a group of atoms with characteristic properties, which when linked to the carbon skeleton of a molecule, alter the properties of that molecule. For example, the presence of certain functional groups on a molecule will make them hydrophilic, whereas others will make them hydrophobic. These functional groups are an indispensable part of organic chemistry and important components of biological molecules, such as carbohydrates, proteins, lipids, and nucleic acids. Each...
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Measuring Enzymatic Activity of Neurodevelopmental Disorder-Associated Deubiquitylating Enzymes via an In Vitro Ubiquitin Chain Cleavage Assay
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Microglial Maturation and Functional Heterogeneity: Mechanistic Links to Neurodevelopmental Disorders.

Pariya Khodabakhsh1, Olga Garaschuk1

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International Journal of Molecular Sciences
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Summary

Microglia, the brain's immune cells, are crucial for development. This review highlights their specialized roles in brain maturation and how their early dysfunction can lead to neurological disorders like epilepsy and autism spectrum disorder.

Keywords:
autism spectrum disorderscircuit maturationepileptogenesismicroglianeurodevelopmentsynaptic pruning

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Area of Science:

  • Neuroscience
  • Immunology
  • Developmental Biology

Background:

  • Microglia, the central nervous system (CNS) resident macrophages, are increasingly recognized for their critical roles in brain development.
  • Their precise temporal and molecular maturation is essential for the structural and functional integrity of the developing CNS.

Purpose of the Study:

  • To synthesize recent findings that reframe microglia from uniform immune cells to temporally programmed, regionally specialized regulators of circuit maturation.
  • To dissect the embryonic origins and migratory pathways of microglial progenitors.
  • To illustrate how microglial maturation aligns with key neurodevelopmental processes.

Main Methods:

  • Review of recent scientific literature and data synthesis.
  • Dissection of embryonic origins and migratory pathways of microglial progenitors in mouse and human systems.
  • Analysis of transcriptional and morphological maturation of microglia.

Main Results:

  • Microglia are repositioned from a uniform population to temporally programmed and regionally specialized regulators of circuit maturation.
  • Microglial maturation aligns with neurogenesis, synaptic refinement, myelination, and vascular stabilization.
  • Gene mutations, perinatal inflammation, and environmental factors can disrupt microglial programming, impairing circuit formation.

Conclusions:

  • Early microglial malfunction can drive neural network dysfunction, contributing to conditions like epilepsy and autism spectrum disorder.
  • Understanding the temporal and regional specialization of microglia is key to addressing developmental neurological disorders.