دورية أكاديمية
Proteomics insights into fragile X syndrome: Unraveling molecular mechanisms and therapeutic avenues.
| العنوان: | Proteomics insights into fragile X syndrome: Unraveling molecular mechanisms and therapeutic avenues. |
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| المؤلفون: | Abbasi DA; Departments of Pediatrics and Neurological Sciences, Rush University Medical Center, Chicago, IL 60612, United States of America., Berry-Kravis E; Departments of Pediatrics and Neurological Sciences, Rush University Medical Center, Chicago, IL 60612, United States of America., Zhao X; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53705, United States of America., Cologna SM; Department of Chemistry, University of Illinois Chicago, Chicago, IL 60607, United States of America. Electronic address: cologna@uic.edu. |
| المصدر: | Neurobiology of disease [Neurobiol Dis] 2024 May; Vol. 194, pp. 106486. Date of Electronic Publication: 2024 Mar 26. |
| نوع المنشور: | Journal Article; Review |
| اللغة: | English |
| بيانات الدورية: | Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-953X (Electronic) Linking ISSN: 09699961 NLM ISO Abbreviation: Neurobiol Dis Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: San Diego, CA : Academic Press Original Publication: Oxford : Blackwell Science, c1994- |
| مواضيع طبية MeSH: | Fragile X Syndrome*/genetics , Fragile X Syndrome*/therapy , Fragile X Syndrome*/metabolism, Humans ; Fragile X Mental Retardation Protein/genetics ; Fragile X Mental Retardation Protein/metabolism ; Proteomics ; Gene Expression Regulation |
| مستخلص: | Fragile X Syndrome (FXS) is a neurodevelopment disorder characterized by cognitive impairment, behavioral challenges, and synaptic abnormalities, with a genetic basis linked to a mutation in the FMR1 (Fragile X Messenger Ribonucleoprotein 1) gene that results in a deficiency or absence of its protein product, Fragile X Messenger Ribonucleoprotein (FMRP). In recent years, mass spectrometry (MS) - based proteomics has emerged as a powerful tool to uncover the complex molecular landscape underlying FXS. This review provides a comprehensive overview of the proteomics studies focused on FXS, summarizing key findings with an emphasis on dysregulated proteins associated with FXS. These proteins span a wide range of cellular functions including, but not limited to, synaptic plasticity, RNA translation, and mitochondrial function. The work conducted in these proteomic studies provides a more holistic understanding to the molecular pathways involved in FXS and considerably enhances our knowledge into the synaptic dysfunction seen in FXS. Competing Interests: Declaration of competing interest The authors declare that were no competing interests associated with the manuscript. (Copyright © 2024. Published by Elsevier Inc.) |
| معلومات مُعتمدة: | P50 HD105353 United States HD NICHD NIH HHS; R01 MH116582 United States MH NIMH NIH HHS; R01 MH118827 United States MH NIMH NIH HHS |
| فهرسة مساهمة: | Keywords: Fragile X messenger ribonucleoprotein (FMRP); Fragile X syndrome (FXS); Mass spectrometry; Neurodevelopment disorders; Proteomics |
| المشرفين على المادة: | 139135-51-6 (Fragile X Mental Retardation Protein) 0 (FMR1 protein, human) |
| تواريخ الأحداث: | Date Created: 20240328 Date Completed: 20240410 Latest Revision: 20240410 |
| رمز التحديث: | 20240410 |
| DOI: | 10.1016/j.nbd.2024.106486 |
| PMID: | 38548140 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 1095-953X |
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| DOI: | 10.1016/j.nbd.2024.106486 |