The fragile X syndrome: exploring its molecular basis and seeking a treatment
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Publication type: Journal Article
Publication date: 2006-04-21
scimago Q1
wos Q1
SJR: 1.500
CiteScore: 8.7
Impact factor: 5.5
ISSN: 14623994
PubMed ID:
16626504
Molecular Biology
Molecular Medicine
Abstract
Fragile X syndrome (FXS) – the leading cause of inherited mental retardation – is an X-linked disease caused by loss of expression of the FMR1 (fragile X mental retardation 1) gene. In addition to impairment of higher-cognitive functions, FXS patients show a variety of physical and other mental abnormalities. FMRP, the protein encoded by the FMR1 gene, is thought to play a key role in translation, trafficking and targeting of mRNA in neurons. To better understand FMRP's functions, the protein partners and mRNA targets that interact with FMRP have been sought. These and functional studies have revealed links with processes such as cytoskeleton remodelling via the RhoGTPase pathway and mRNA processing via the RNA interference pathway. In this review, we focus on recent insights into the function of FMRP and speculate on how the absence of FMRP might cause the clinical phenotypes seen in FXS patients. Finally, we explore potential therapies for FXS.
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Total citations:
72
Citations from 2024:
1
(1.39%)
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GOST
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Bardoni B. et al. The fragile X syndrome: exploring its molecular basis and seeking a treatment // Expert Reviews in Molecular Medicine. 2006. Vol. 8. No. 8. pp. 1-16.
GOST all authors (up to 50)
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Bardoni B., Davidovic L., Bensaid M., Khandjian E. W. The fragile X syndrome: exploring its molecular basis and seeking a treatment // Expert Reviews in Molecular Medicine. 2006. Vol. 8. No. 8. pp. 1-16.
Cite this
RIS
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TY - JOUR
DO - 10.1017/s1462399406010751
UR - https://doi.org/10.1017/s1462399406010751
TI - The fragile X syndrome: exploring its molecular basis and seeking a treatment
T2 - Expert Reviews in Molecular Medicine
AU - Bardoni, Barbara
AU - Davidovic, Laetitia
AU - Bensaid, Mounia
AU - Khandjian, Edouard W.
PY - 2006
DA - 2006/04/21
PB - Cambridge University Press
SP - 1-16
IS - 8
VL - 8
PMID - 16626504
SN - 1462-3994
ER -
Cite this
BibTex (up to 50 authors)
Copy
@article{2006_Bardoni,
author = {Barbara Bardoni and Laetitia Davidovic and Mounia Bensaid and Edouard W. Khandjian},
title = {The fragile X syndrome: exploring its molecular basis and seeking a treatment},
journal = {Expert Reviews in Molecular Medicine},
year = {2006},
volume = {8},
publisher = {Cambridge University Press},
month = {apr},
url = {https://doi.org/10.1017/s1462399406010751},
number = {8},
pages = {1--16},
doi = {10.1017/s1462399406010751}
}
Cite this
MLA
Copy
Bardoni, Barbara, et al. “The fragile X syndrome: exploring its molecular basis and seeking a treatment.” Expert Reviews in Molecular Medicine, vol. 8, no. 8, Apr. 2006, pp. 1-16. https://doi.org/10.1017/s1462399406010751.