The DOI matches its Crossref record; 114 of the 114 references it cites were found in a registry or an index.
CGG repeat in the FMR1 gene: size matters
Open accessAbstract
The FMR1 gene contains a CGG repeat present in the 5'-untranslated region which can be unstable upon transmission to the next generation. The repeat is up to 55 CGGs long in the normal population. In patients with fragile X syndrome (FXS), a repeat length exceeding 200 CGGs (full mutation: FM) generally leads to methylation of the repeat and the promoter region, which is accompanied by silencing of the FMR1 gene. The absence of FMR1 protein, FMRP, seen in FM is the cause of the mental retardation in patients with FXS. The premutation (PM) is defined as 55-200 CGGs. Female PM carriers are at risk of developing primary ovarian insufficiency. Elderly PM carriers might develop a progressive neurodegenerative disorder called fragile X-associated tremor/ataxia syndrome (FXTAS). Although arising from the mutations in the same gene, distinct mechanisms lead to FXS (absence of FMRP), FXTAS (toxic RNA gain-of-function) and FXPOI. The pathogenic mechanisms thought to underlie these disorders are discussed. This review gives insight on the implications of all possible repeat length categories seen in fragile X families.
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“FMRP is highly expressed in the brain and acts as translational repressor of several signaling pathways at the synaptic level (Willemsen et al. 2011).”
From Dysfunctional Autism Risk Genes Cause Circuit-Specific Connectivity Deficits With Distinct Developmental Trajectories (2018) · cites this paper as Willemsen et al. 2011
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The mGluR theory of fragile X mental retardation
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Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome
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Fmr1 knockout mice: A model to study fragile X mental retardation
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Incidence of Premature Ovarian Failure
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Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
Hagerman, R. J., Leehey, M. A., Heinrichs, W. L., Tassone, F., Wilson, R., Hills, J. D., Grigsby, J., Gage, B. F., & Hagerman, P. J. (2001) · Neurology · doi:10.1212/wnl.57.1.127 · Cited by 966
Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function
Darnell, J. C., Jensen, K. B., Jin, P., Brown, V., Warren, S. T., & Darnell, R. B. (2001) · Cell · doi:10.1016/s0092-8674(01)00566-9 · Cited by 952
Fragile X Genotype Characterized by an Unstable Region of DNA
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Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates
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Hagerman, R. J., Berry-Kravis, E., Hazlett, H. C., Bailey, D. B., Moine, H., Kooy, R. F., Tassone, F., Gantois, I., Sonenberg, N., Mandel, J. L., et al. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.65 · Cited by 838
Reddy, K., Zamiri, B., Stanley, S. Y., Macgregor, R. B., & Pearson, C. E. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.c113.452532 · Cited by 318
Dendritic spines: Revisiting the physiological role
Chidambaram, S. B., Rathipriya, A. G., Bolla, S. R., Bhat, A., Ray, B., Mahalakshmi, A. M., Manivasagam, T., Thenmozhi, A. J., Essa, M. M., Guillemin, G. J., et al. (2019) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2019.01.005 · Cited by 266
Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X genePreprint
Loomis, E. W., Eid, J. S., Peluso, P. S., Yin, J., Hickey, L., Rank, D. R., McCalmon, S. A., Hagerman, R. J., Tassone, F., & Hagerman, P. J. (2012) · Genome Research · doi:10.1101/gr.141705.112 · Cited by 203
The role of long non-coding RNAs in neurodevelopment, brain function and neurological disease
Roberts, T. C., Morris, K. V., & Wood, M. J. A. (2014) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2013.0507 · Cited by 213
Metadata
- Authors
- Willemsen, R., Levenga, J., & Oostra, B.
- Affiliations
- Erasmus MC (NL)
- Venue
- Clinical Genetics
- Publisher
- Wiley
- Published
- 2011-06-30
- Volume
- 80
- Issue
- 3
- Pages
- 214-225
- ISSN
- 0009-9163 (ISSN-L)
- PMC
- PMC3151325
- OpenAlex
- W2122400358
- Cited by
- 184
- References
- 114
- Citations by year
- 2026: 8 · 2025: 11 · 2024: 12 · 2023: 12 · 2022: 7 · 2021: 9 · 2020: 4 · 2019: 12 · 2018: 12 · 2017: 8 · 2016: 16 · 2015: 11 · 2014: 22 · 2013: 20 · 2012: 17
- FWCI
- 2.08
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Clinical Genetics (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- Funders
- ZonMw (113301069)
- National Institute of Neurological Disorders and Stroke (RL1NS062411)
- National Institute of Dental and Craniofacial Research (UL1DE019583)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01 HD38038, R01HD038038)
- 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 › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- FMR1 gene, CGG repeat, fragile X syndrome, fragile X premutation, fragile X-associated tremor/ataxia syndrome, repeat length, repeat instability, DNA methylation, FMRP, neurodegeneration, pathophysiological mechanisms
- MeSH terms
- Aged, Animals, Ataxia, Brain, Disease Models, Animal, Female, Fragile X Syndrome, Genotype, Humans, Neurons, Phenotype, Gene Expression, Primary Ovarian Insufficiency, Mice, Knockout, Trinucleotide Repeats, DNA Methylation, 5' Untranslated Regions, Mice, Fragile X Messenger Ribonucleoprotein 1, Prescription Drugs, Genetic Association Studies
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