The DOI matches its Crossref record; 133 of the 133 references it cites were found in a registry or an index.
The Pathophysiology of Fragile X Syndrome
Abstract
Fragile X syndrome is the most common form of inherited mental retardation. The disorder is mainly caused by the expansion of the trinucleotide sequence CGG located in the 5' UTR of the FMR1 gene on the X chromosome. The abnormal expansion of this triplet leads to hypermethylation and consequent silencing of the FMR1 gene. Thus, the absence of the encoded protein (FMRP) is the basis for the phenotype. FMRP is a selective RNA-binding protein that associates with polyribosomes and acts as a negative regulator of translation. FMRP appears to play an important role in synaptic plasticity by regulating the synthesis of proteins encoded by certain mRNAs localized in the dendrite. An advancing understanding of the pathophysiology of this disorder has led to promising strategies for pharmacologic interventions.
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“The disorder is primarily caused by expansion of a CGG triplet repeat in the 5 ′ untranslated region of the fragile X mental retardation 1 ( FMR1 ) gene that cause a reduction of the FMR1 protein, although several other mutations in FMR1 have been described 90 .”
From Developmental timing and critical windows for the treatment of psychiatric disorders (2016) · cites this paper as [90]
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Gebauer, F., Schwarzl, T., Valcárcel, J., & Hentze, M. W. (2020) · Nature Reviews Genetics · doi:10.1038/s41576-020-00302-y · Cited by 1,208
mTOR signaling: At the crossroads of plasticity, memory and disease
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Fragile X Syndrome: Loss of Local mRNA Regulation Alters Synaptic Development and Function
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Metadata
- Authors
- Penagarikano, O., Mulle, J. G., & Warren, S. T.
- Affiliations
- Department of Human Genetics, 2Department of Biochemistry and 3Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia 30322;, ,
- Emory University (US)
- Venue
- Annual Review of Genomics and Human Genetics
- Publisher
- Annual Reviews
- Published
- 2007-09-01
- Volume
- 8
- Issue
- 1
- Pages
- 109-129
- ISSN
- 1527-8204 (ISSN-L)
- 1545-293X
- OpenAlex
- W2141296384
- Cited by
- 420
- References
- 133
- Citations by year
- 2026: 13 · 2025: 12 · 2024: 10 · 2023: 11 · 2022: 11 · 2021: 19 · 2020: 14 · 2019: 26 · 2018: 21 · 2017: 20 · 2016: 24 · 2015: 24 · 2014: 32 · 2013: 27 · 2012: 39
- FWCI
- 2.97
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annual Review of Genomics and Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Keywords
- fragile X syndrome, FMR1 gene, CGG repeat expansion, FMRP, RNA-binding proteins, translational regulation, synaptic plasticity, dendritic mRNA localization, epigenetic silencing, hypermethylation, intellectual disability, pathophysiology, pharmacological interventions
- MeSH terms
- Base Sequence, Fragile X Syndrome, Humans, Models, Biological, Molecular Sequence Data, Mutation, Neurons, Nucleic Acid Conformation, Trinucleotide Repeats, Inheritance Patterns, Chromosomes, Human, X, Fragile X Messenger Ribonucleoprotein 1
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