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Advances in Neurodevelopmental-Related Disorders

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".

Deadline for manuscript submissions: 30 November 2024 | Viewed by 1724

Special Issue Editor


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Guest Editor
Center for Neuroscience and Cell Biology, University of Coimbra, 3004-531 Coimbra, Portugal
Interests: P2Y1 receptor; neurodegeneration; ATP; ADP; brain; adenosine

Special Issue Information

Dear Colleagues,

Nervous system development entails different tightly-regulated processes, from neurogenesis and cell migration, which are key to developing a proper cytoarchitecture, to subsequent neuronal differentiation, axon pathfinding, and synaptogenesis, which are needed to set up a functional synaptic network. All these events are tightly orchestrated by gradients of morphogenetic factors and soluble and non-soluble cues, which support the development of a functional nervous system through subsequent signal transduction pathways regulating different cellular processes such as gene expression or cytoskeleton dynamics. Hence, any subtle disturbance in any of these elements/processes, either derived from genetic or environment-driven defects, may lead to mild or severe neurological and psychiatric conditions. This Special Issue aims to collect contributions that highlight the diagnosis, pathogenesis, and/or therapeutics of neurodevelopmental disorders.

Dr. Joana M. Marques
Guest Editor

Manuscript Submission Information

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Keywords

  • neurodevelopmental disorders
  • neuropsychiatric disorders
  • neurological disorders
  • genetic defects
  • environmental-driven defects
  • neurogenesis
  • neuronal migration
  • neuronal differentiation
  • synaptogenesis
  • biomarkers

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Published Papers (1 paper)

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Review

21 pages, 3875 KiB  
Review
Ubiquitination Insight from Spinal Muscular Atrophy—From Pathogenesis to Therapy: A Muscle Perspective
by Alfonso Bolado-Carrancio, Olga Tapia and José C. Rodríguez-Rey
Int. J. Mol. Sci. 2024, 25(16), 8800; https://doi.org/10.3390/ijms25168800 - 13 Aug 2024
Viewed by 1272
Abstract
Spinal muscular atrophy (SMA) is one of the most frequent causes of death in childhood. The disease’s molecular basis is deletion or mutations in the SMN1 gene, which produces reduced survival motor neuron protein (SMN) levels. As a result, there is spinal motor [...] Read more.
Spinal muscular atrophy (SMA) is one of the most frequent causes of death in childhood. The disease’s molecular basis is deletion or mutations in the SMN1 gene, which produces reduced survival motor neuron protein (SMN) levels. As a result, there is spinal motor neuron degeneration and a large increase in muscle atrophy, in which the ubiquitin–proteasome system (UPS) plays a significant role. In humans, a paralogue of SMN1, SMN2 encodes the truncated protein SMNΔ7. Structural differences between SMN and SMNΔ7 affect the interaction of the proteins with UPS and decrease the stability of the truncated protein. SMN loss affects the general ubiquitination process by lowering the levels of UBA1, one of the main enzymes in the ubiquitination process. We discuss how SMN loss affects both SMN stability and the general ubiquitination process, and how the proteins involved in ubiquitination could be used as future targets for SMA treatment. Full article
(This article belongs to the Special Issue Advances in Neurodevelopmental-Related Disorders)
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