Evidence map›Paper›PMID 38548140›Full record

ReviewNeurobiology of disease2024

Proteomics insights into fragile X syndrome: Unraveling molecular mechanisms and therapeutic avenues.

Diana A Abbasi, Elizabeth Berry-Kravis, Xinyu Zhao, Stephanie M Cologna

Open access · goldAbstract readReview
In one paragraph

Review in Neurobiology of disease, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
5.5field-weighted citation impact, top 4% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed, 10 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Review
  8. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 3 institutions in 1 country.

Diana A AbbasiDepartments of Pediatrics and Neurological Sciences, Rush University Medical Center, Chicago, IL 60612, United States of America.
Elizabeth Berry-KravisDepartments of Pediatrics and Neurological Sciences, Rush University Medical Center, Chicago, IL 60612, United States of America.
Xinyu ZhaoDepartment of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53705, United States of America.
Stephanie M ColognaDepartment of Chemistry, University of Illinois Chicago, Chicago, IL 60607, United States of America. Electronic address: cologna@uic.edu.
Rush University Medical Center · USUniversity of Illinois Chicago · USUniversity of Wisconsin–Madison · US

Funding

Waisman Center Intellectual and Developmental Disabilities Research CenterP50HD105353 · NICHD · UNIVERSITY OF WISCONSIN-MADISON · PI Qiang Chang · 2021 to 2026
$8.5M
Novel Therapeutic Approaches for NPC DiseaseR01NS124784 · NINDS · UNIVERSITY OF ILLINOIS AT CHICAGO · PI Vinay Aakalu, Stephanie M Cologna · 2022 to 2026
$2.9M
The Role of MDM2 in FMRP regulation of neuronal developmentR01MH116582 · NIMH · UNIVERSITY OF WISCONSIN-MADISON · PI ZHAO, XINYU · 2018 to 2022
$2.2M
The role of RNA binding protein in FXR1P in interneuronsR01MH118827 · NIMH · UNIVERSITY OF WISCONSIN-MADISON · PI ZHAO, XINYU · 2019 to 2023
$2.2M
Interrogate FMRP functions in primate brain developmentR01MH136152 · NIMH · UNIVERSITY OF WISCONSIN-MADISON · PI Xinyu Zhao · 2024 to 2026
$2.2M
Development of autophagy modulators for evaluation as a therapeutic strategy for Niemann-Pick Type CR01NS114413 · NINDS · UNIVERSITY OF ILLINOIS AT CHICAGO · PI COLOGNA, STEPHANIE M · 2020 to 2024
$2.0M
FDA HHS U01 FD008126NICHD NIH HHS P50 HD105353NIMH NIH HHS R01 MH116582NIMH NIH HHS R01 MH118827NIMH NIH HHS R01 MH136152NINDS NIH HHS R01 NS114413NINDS NIH HHS R01 NS124784
6 · The paper itself

Abstract

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.

Indexed as

Fragile X SyndromeFragile X Messenger Ribonucleoprotein 1Gene Expression RegulationHumansProteomicsFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1Fragile X messenger ribonucleoprotein (FMRP)Fragile X syndrome (FXS)Mass spectrometryNeurodevelopment disordersProteomics

Identifiers

PMID38548140
PMCPMC11650894
OpenAlexW4393182811

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.