The Pathophysiology of Fragile X Syndrome

Initial sequencing and analysis of the human genome

International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216 · see citing works

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

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Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

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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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Absence of expression of the FMR-1 gene in fragile X syndrome

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Altered synaptic plasticity in a mouse model of fragile X mental retardation

Huber, K. M., Gallagher, S. M., Warren, S. T., & Bear, M. F. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.122205699 · Cited by 1,349 · see citing works

Structure and function of dendritic spines

Nimchinsky, E. A., Sabatini, B. L., & Svoboda, K. (2002) · Annual Review of Physiology · doi:10.1146/annurev.physiol.64.081501.160008 · Cited by 1,208 · see citing works

Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome

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Fmr1 knockout mice: A model to study fragile X mental retardation

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Role for rapid dendritic protein synthesis in hippocampal mGluR-dependent long-term depression.

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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 · see citing works

Repeat instability: mechanisms of dynamic mutations

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The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation

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FMR1 Protein: Conserved RNP Family Domains and Selective RNA Binding

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Repeat instability : mechanisms of dynamic mutations

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Protein Synthesis at Synaptic Sites on Dendrites

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The Fragile X Syndrome Protein FMRP Associates with BC1 RNA and Regulates the Translation of Specific mRNAs at Synapses

Zalfa, F., Giorgi, M., Primerano, B., Moro, A., Di Penta, A., Reis, S., Oostra, B., & Bagni, C. (2003) · Cell · doi:10.1016/s0092-8674(03)00079-5 · Cited by 676 · see citing works

Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation

Weiler, I. J., Irwin, S. A., Klintsova, A. Y., Spencer, C. M., Brazelton, A. D., Miyashiro, K., Comery, T. A., Patel, B., Eberwine, J., & Greenough, W. T. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.10.5395 · Cited by 644 · see citing works

Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

Rousseau, F., Heitz, D., Biancalana, V., Blumenfeld, S., Kretz, C., Boué, J., Tommerup, N., Hagen, C. V. D., DeLozier-Blanchet, C. D., Croquette, M., et al. (1991) · New England Journal of Medicine · doi:10.1056/nejm199112123252401 · Cited by 643 · see citing works

The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein.

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A point mutation in the FMR-1 gene associated with fragile X mental retardation

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A marker X chromosome.

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Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway

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Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers

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Abnormal Development of Dendritic Spines in<i>FMR1</i>Knock-Out Mice

Nimchinsky, E. A., Oberlander, A. M., & Svoboda, K. (2001) · The Journal of Neuroscience · doi:10.1523/jneurosci.21-14-05139.2001 · Cited by 560 · see citing works

Neuronal RNA Granules

Krichevsky, A. M., & Kosik, K. S. (2001) · Neuron · doi:10.1016/s0896-6273(01)00508-6 · Cited by 536 · see citing works

Fragile X mental retardation protein: Nucleocytoplasmic shuttling and association with somatodendritic ribosomes.

Feng, Y., Gutekunst, C.-A., Eberhart, D. E., Yi, H., Warren, S. T., & Hersch, S. M. (1997) · The Journal of Neuroscience · doi:10.1523/jneurosci.17-05-01539.1997 · Cited by 532 · see citing works

Fragile Sites on Human Chromosomes: Demonstration of Their Dependence on the Type of Tissue Culture Medium

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Suppression of two major Fragile X Syndrome mouse model phenotypes by the mGluR5 antagonist MPEP

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Further segregation analysis of the fragile X syndrome with special reference to transmitting males

Sherman, S. L., Jacobs, P. A., Morton, N. E., Froster‐Iskenius, U., Howard‐Peebles, P. N., Nielsen, K. B., Partington, M. W., Sutherland, G. R., TURNER, G. M., & Watson, M. (1985) · Human Genetics · doi:10.1007/bf00291644 · Cited by 510 · see citing works

Association of FMR1 repeat size with ovarian dysfunction

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RNA cargoes associating with FMRP reveal deficits in cellular functioning in Fmr1 null mice

Miyashiro, K. Y., Beckel-Mitchener, A., Purk, T. P., Becker, K. G., Barret, T., Liu, L., Carbonetto, S., Weiler, I. J., Greenough, W. T., & Eberwine, J. (2003) · Neuron · doi:10.1016/s0896-6273(03)00034-5 · Cited by 495 · see citing works

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

Eichler, E. E., Holden, J. J. A., Popovich, B. W., Reiss, A. L., Snow, K., Thibodeau, S. N., Richards, C. S., Ward, P. A., & Nelson, D. L. (1994) · Nature Genetics · doi:10.1038/ng0994-88 · Cited by 481 · see citing works

A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE

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Pharmacological Rescue of Synaptic Plasticity, Courtship Behavior, and Mushroom Body Defects in a Drosophila Model of Fragile X Syndrome

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Dynamic Translational and Proteasomal Regulation of Fragile X Mental Retardation Protein Controls mGluR-Dependent Long-Term Depression

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Synaptic Protein Synthesis Associated with Memory Is Regulated by the RISC Pathway in Drosophila

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NONCODING RNAS IN THE MAMMALIAN CENTRAL NERVOUS SYSTEM

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Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles

Nolin, S. L., Brown, W. T., Glicksman, A., Houck, Jr., Gargano, A. D., Sullivan, A., Biancalana, V., Bröndum-Nielsen, K., Hjalgrim, H., Holinski-Feder, E., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/367713 · Cited by 421 · see citing works

Drosophila as a Model for Human Neurodegenerative Disease

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Deletion of FMR1 in Purkinje Cells Enhances Parallel Fiber LTD, Enlarges Spines, and Attenuates Cerebellar Eyelid Conditioning in Fragile X Syndrome

Koekkoek, S. K. E., Yamaguchi, K., Milojkovic, B. A., Dortland, B. R., Ruigrok, T. J. H., Maex, R., Graaf, W. D., Smit, A. E., VanderWerf, F., Bakker, C. E., et al. (2005) · Neuron · doi:10.1016/j.neuron.2005.07.005 · Cited by 417 · see citing works

The marker (X) syndrome: a cytogenetic and genetic analysis

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Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles

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Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome.

Rousseau, F., Rouillard, P., Morel, M. L., Khandjian, E. W., & Morgan, K. (1995) · Europe PMC (PubMed Central) · Cited by 361 · see citing works

Translational Suppression by Trinucleotide Repeat Expansion at <i>FMR1</i>

Feng, Y., Zhang, F., Lokey, L. K., Chastain, J. L., Lakkis, L., Eberhart, D., & Warren, S. T. (1995) · Science · doi:10.1126/science.7732383 · Cited by 358 · see citing works

A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P

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The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2.

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Phosphorylation influences the translation state of FMRP-associated polyribosomes

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Trinucleotide Repeats: Mechanisms and Pathophysiology

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Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells

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Simple repeat DNA is not replicated simply

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Report of the committee on chromosome rearrangements in neoplasia and on fragile sites

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Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes

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Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain

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The fragile X syndrome.

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Genetic Instabilities and Hereditary Neurological Diseases

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Localization of FMRP‐associated mRNA granules and requirement of microtubules for activity‐dependent trafficking in hippocampal neurons

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Slippery DNA and diseases

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High functioning fragile X males: Demonstration of an unmethylated fully expanded FMR‐1 mutation associated with protein expression

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Fragile X syndrome without CCG amplification has an FMR1 deletion

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Dendritic BC1 RNA: Functional Role in Regulation of Translation Initiation

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Synergistic Effect of Histone Hyperacetylation and DNA Demethylation in the Reactivation of the FMR1 Gene

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Histone Modifications Depict an Aberrantly Heterochromatinized FMR1 Gene in Fragile X Syndrome

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Alternative Splicing of Exon 14 Determines Nuclear or Cytoplasmic Localisation of FMR1 Protein Isoforms

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Characterization of the full fragile X syndrome mutation in fetal gametes

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Immunocytochemical and Biochemical Characterization of FMRP, FXR1P, and FXR2P in the Mouse

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Heterozygous fragile X female: Historical, physical, cognitive, and cytogenetic features

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Dendritic pathology in mental retardation: from molecular genetics to neurobiology

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Fine structure of the human FMR1 gene

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Isolation of an FMRP-Associated Messenger Ribonucleoprotein Particle and Identification of Nucleolin and the Fragile X-Related Proteins as Components of the Complex

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Familial transmission of the FMR1 CGG repeat.

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Local Protein Synthesis and Spine Morphogenesis: Fragile X Syndrome and Beyond

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Isolation of Sequences that Span the Fragile X and Identification of a Fragile X-Related CpG Island

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A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.

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The neuroanatomy and neuroendocrinology of fragile X syndrome

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Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome

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The fragile x mental retardation protein binds and regulates a novel class of mRNAs containing u rich target sequences

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Fragile X syndrome

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Mechanisms of premature ovarian failure.

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Alternative splicing in the fragile X gene FMR1

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Attention and language in fragile X

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A novel RNA binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein

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Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation

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Contribution of mGluR and Fmr1 functional pathways to neurite morphogenesis, craniofacial development and fragile X syndrome

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Down syndrome consequent to a cryptic maternal 12p;21q chromosome translocation

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A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome

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