FMRP

Summary

Gene Symbol: FMRP
Description: fragile X mental retardation 1
Alias: FMRP, FRAXA, POF, POF1, synaptic functional regulator FMR1, fragile X mental retardation protein 1
Species: human
Products:     FMRP

Top Publications

  1. Bailey D, Raspa M, Olmsted M, Holiday D. Co-occurring conditions associated with FMR1 gene variations: findings from a national parent survey. Am J Med Genet A. 2008;146A:2060-9 pubmed publisher
  2. Garcia Arocena D, Louis E, Tassone F, Gilliam T, Ottman R, Jacquemont S, et al. Screen for expanded FMR1 alleles in patients with essential tremor. Mov Disord. 2004;19:930-3 pubmed
    ..Screening of movement disorder patients with other clinical features of FXTAS (e.g., ataxia and parkinsonism) may be more likely to yield expanded FMR1 alleles. ..
  3. Rajkiewicz M, Sułek Piatkowska A, Krysa W, Zdzienicka E, Szirkowiec W, Zaremba J. Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. Neurol Neurochir Pol. 2008;42:497-504 pubmed
    ..26%). The low frequency of FXTAS in the studied material probably results from the fact that the syndrome is much more common in elderly persons (penetrance of the pathogenic premutation gene is higher among elderly individuals). ..
  4. Reis A, Ferreira A, Gomes K, Aguiar M, Fonseca C, Cardoso F, et al. Frequency of FMR1 premutation in individuals with ataxia and/or tremor and/or parkinsonism. Genet Mol Res. 2008;7:74-84 pubmed
    ..The FXTAS contribution in patients with phenotypic manifestations of FXTAS was 15/748 (2%). The presence of gray zone alleles is not correlated with FXTAS occurrence. ..
  5. Rodriguez Revenga L, Gomez Anson B, Muñoz E, Jimenez D, Santos M, Tintore M, et al. FXTAS in spanish patients with ataxia: support for female FMR1 premutation screening. Mol Neurobiol. 2007;35:324-8 pubmed
    ..Early diagnosis of these patients benefits not only them but also the rest of the family that should be advised for the fragile X syndrome. ..
  6. Hagerman R, Leavitt B, Farzin F, Jacquemont S, Greco C, Brunberg J, et al. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet. 2004;74:1051-6 pubmed
  7. Murray A, Schoemaker M, Bennett C, Ennis S, Macpherson J, Jones M, et al. Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency. Genet Med. 2014;16:19-24 pubmed publisher
    ..FMR1 premutations are not as prevalent in women with ovarian insufficiency as previous estimates have suggested, but they still represent a substantial cause of primary ovarian insufficiency and early menopause. ..
  8. SHERIDAN S, Theriault K, Reis S, Zhou F, Madison J, Daheron L, et al. Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome. PLoS ONE. 2011;6:e26203 pubmed publisher
    ..FMR1) gene leading to epigenetic silencing and loss of expression of the Fragile X Mental Retardation protein (FMRP)...
  9. Jacquemont S, Hagerman R, Leehey M, Hall D, Levine R, Brunberg J, et al. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA. 2004;291:460-9 pubmed

More Information

Publications128 found, 100 shown here

  1. Weghofer A, Tea M, Barad D, Kim A, Singer C, Wagner K, et al. BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the "BRCA paradox"?. PLoS ONE. 2012;7:e44753 pubmed publisher
  2. Lim J, Booker A, Luo T, Williams T, Furuta Y, Lagutin O, et al. AP-2alpha selectively regulates fragile X mental retardation-1 gene transcription during embryonic development. Hum Mol Genet. 2005;14:2027-34 pubmed
    ..We conclude that AP-2alpha associates with the Fmr1 promoter in vivo and selectively regulates Fmr1 transcription during embryonic development. ..
  3. Hessl D, Tassone F, Loesch D, Berry Kravis E, Leehey M, Gane L, et al. Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. Am J Med Genet B Neuropsychiatr Genet. 2005;139B:115-21 pubmed
    ..checklist and FMR1 genetic testing, including determination of CGG repeat size, percentage of FMR1 protein (FMRP)-positive lymphocytes, and FMR1 mRNA levels...
  4. Boyle L, Kaufmann W. The behavioral phenotype of FMR1 mutations. Am J Med Genet C Semin Med Genet. 2010;154C:469-76 pubmed publisher
    ..We examine the neurobehavioral phenotypes of FXS and FMR1 premutation as they manifest across the lifespan of the individual. ..
  5. Renda M, Voigt R, Babovic Vuksanovic D, Highsmith W, Vinson S, Sadowski C, et al. Neurodevelopmental disabilities in children with intermediate and premutation range fragile X cytosine-guanine-guanine expansions. J Child Neurol. 2014;29:326-30 pubmed publisher
  6. Naumann A, Hochstein N, Weber S, Fanning E, Doerfler W. A distinct DNA-methylation boundary in the 5'- upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome. Am J Hum Genet. 2009;85:606-16 pubmed publisher
    ..In individuals with the fragile X syndrome (FRAXA), the methylation boundary is lost; methylation has penetrated into the FMR1 promoter and inactivated the FMR1 ..
  7. Hoem G, Raske C, Garcia Arocena D, Tassone F, Sanchez E, Ludwig A, et al. CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTAS. Hum Mol Genet. 2011;20:2161-70 pubmed publisher
  8. Sullivan A, Marcus M, Epstein M, Allen E, Anido A, Paquin J, et al. Association of FMR1 repeat size with ovarian dysfunction. Hum Reprod. 2005;20:402-12 pubmed
    ..Intriguingly, this risk appears to plateau, or perhaps decrease, among women with very high repeats (> or =100 repeats). ..
  9. Gleicher N, Kim A, Weghofer A, Barad D. Differences in ovarian aging patterns between races are associated with ovarian genotypes and sub-genotypes of the FMR1 gene. Reprod Biol Endocrinol. 2012;10:77 pubmed publisher
    ..012). FOR changes in different races at different rates, and appears to parallel ovarian FMR1 genotypes and sub-genotype distributions. Differences in ovarian aging between races may, therefore, be FMR1-associated. ..
  10. Denman R. Methylation of the arginine-glycine-rich region in the fragile X mental retardation protein FMRP differentially affects RNA binding. Cell Mol Biol Lett. 2002;7:877-83 pubmed
    ..We have demonstrated that the interaction of homoribopolymer mimetic RNAs with human FMRP (hFMRP) made in PRMT-containing cell-free lysates is more sensitive to increasing salt concentrations than ..
  11. Kim M, Bellini M, Ceman S. Fragile X mental retardation protein FMRP binds mRNAs in the nucleus. Mol Cell Biol. 2009;29:214-28 pubmed publisher
    The fragile X mental retardation protein FMRP is an RNA binding protein that associates with a large collection of mRNAs...
  12. Rodriguez Revenga L, Madrigal I, Pagonabarraga J, Xunclà M, Badenas C, Kulisevsky J, et al. Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families. Eur J Hum Genet. 2009;17:1359-62 pubmed publisher
    ..The premutation has been associated with elevated FMR1 mRNA levels and slight to moderate reductions in FMRP levels...
  13. Telias M, Segal M, Ben Yosef D. Neural differentiation of Fragile X human Embryonic Stem Cells reveals abnormal patterns of development despite successful neurogenesis. Dev Biol. 2013;374:32-45 pubmed publisher
    ..disability, caused by developmentally regulated inactivation of FMR1, leading to the absence of its encoded protein FMRP. We have previously shown that undifferentiated Fragile X human Embryonic Stem Cells (FX-hESCs) express FMRP, ..
  14. Chen L, Yun S, Seto J, Liu W, Toth M. The fragile X mental retardation protein binds and regulates a novel class of mRNAs containing U rich target sequences. Neuroscience. 2003;120:1005-17 pubmed
    ..is a common form of inherited mental retardation caused by the absence of the fragile X mental retardation protein (FMRP). It has been hypothesized that FMRP is involved in the processing and/or translation of mRNAs...
  15. Coffee B, Keith K, Albizua I, Malone T, Mowrey J, Sherman S, et al. Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet. 2009;85:503-14 pubmed publisher
    ..Given the trials now underway for possible FXS treatments, this method could be used in newborn or infant screening as a way of ensuring early interventions for FXS. ..
  16. Ascano M, Mukherjee N, Bandaru P, Miller J, Nusbaum J, Corcoran D, et al. FMRP targets distinct mRNA sequence elements to regulate protein expression. Nature. 2012;492:382-6 pubmed publisher
    ..caused by the loss of fragile X mental retardation 1 (FMR1) expression, which codes for the RNA-binding protein FMRP. Here we report the discovery of distinct RNA-recognition elements that correspond to the two independent RNA-..
  17. Biancalana V, Toft M, Le Ber I, Tison F, Scherrer E, Thibodeau S, et al. FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy. Arch Neurol. 2005;62:962-6 pubmed
    ..It has been proposed that FXTAS might be a common neurodegenerative disorder...
  18. Bodega B, Bione S, Dalpra L, Toniolo D, Ornaghi F, Vegetti W, et al. Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. Hum Reprod. 2006;21:952-7 pubmed
    ..Furthermore, the correlation between POF and X-inactivation was investigated in FRAXA families...
  19. Nolin S, Brown W, Glicksman A, Houck G, Gargano A, Sullivan A, et al. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet. 2003;72:454-64 pubmed
    ..9% for 55-59, and 80% for 60-65 repeats). These studies should allow improved risk assessments for genetic counseling of women with premutation or intermediate-size alleles. ..
  20. Ofer N, Weisman Shomer P, Shklover J, Fry M. The quadruplex r(CGG)n destabilizing cationic porphyrin TMPyP4 cooperates with hnRNPs to increase the translation efficiency of fragile X premutation mRNA. Nucleic Acids Res. 2009;37:2712-22 pubmed publisher
    ..Whereas low doses of TMPyP4, CBF-A or hnRNP A2 by themselves did not affect the in vivo utilization of (CGG)(99)-FL mRNA, introduction of TMPyP4 together with either protein synergistically augmented its translation efficiency. ..
  21. Gleicher N, Weghofer A, Lee I, Barad D. FMR1 genotype with autoimmunity-associated polycystic ovary-like phenotype and decreased pregnancy chance. PLoS ONE. 2010;5:e15303 pubmed publisher
    ..3) for autoimmunity, ovarian function and, likely, pregnancy chance with IVF. ..
  22. Kim M, Ceman S. Fragile X mental retardation protein: past, present and future. Curr Protein Pept Sci. 2012;13:358-71 pubmed
    ..The domain features of the fragile X mental retardation protein FMRP are described, as are the mRNAs bound by FMRP and the role of post-translational modifications as regulators of ..
  23. Darnell J, Fraser C, Mostovetsky O, Stefani G, Jones T, Eddy S, et al. Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes. Genes Dev. 2005;19:903-18 pubmed
    ..retardation is caused by loss of function of a single gene encoding the Fragile-X mental retardation protein, FMRP, an RNA-binding protein that harbors two KH-type and one RGG-type RNA-binding domains...
  24. Bagni C, Greenough W. From mRNP trafficking to spine dysmorphogenesis: the roots of fragile X syndrome. Nat Rev Neurosci. 2005;6:376-87 pubmed
    The mental retardation protein FMRP is involved in the transport of mRNAs and their translation at synapses...
  25. Dobson T, Kube E, Timmerman S, Krushel L. Identifying intrinsic and extrinsic determinants that regulate internal initiation of translation mediated by the FMR1 5' leader. BMC Mol Biol. 2008;9:89 pubmed publisher
    Regulating synthesis of the Fragile X gene (FMR1) product, FMRP alters neural plasticity potentially through its role in the microRNA pathway...
  26. Gleicher N, Weghofer A, Lee I, Barad D. Association of FMR1 genotypes with in vitro fertilization (IVF) outcomes based on ethnicity/race. PLoS ONE. 2011;6:e18781 pubmed publisher
    ..5-times the odds of being associated with autoimmune positivity (OR 2.5, 1.34-4.55; P?=?0.004). FMR1 genotypes offer a possible explanation for differences in IVF outcomes between races/ethnicities. ..
  27. Gleicher N, Weghofer A, Kim A, Barad D. The impact in older women of ovarian FMR1 genotypes and sub-genotypes on ovarian reserve. PLoS ONE. 2012;7:e33638 pubmed publisher
    ..Known associated with low FOR at young age, het-norm/high, thus, appears to preserve FOR into older age, and both het sub-genotypes appear to expand female reproductive lifespan into opposite directions. ..
  28. Primerano B, Tassone F, Hagerman R, Hagerman P, Amaldi F, Bagni C. Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. RNA. 2002;8:1482-8 pubmed
    ..cell lines derived from unrelated male carriers of a premutation that overexpress FMR1 mRNA and show reduced FMRP level compared to normal cells...
  29. Adinolfi S, Ramos A, Martin S, Dal Piaz F, Pucci P, Bardoni B, et al. The N-terminus of the fragile X mental retardation protein contains a novel domain involved in dimerization and RNA binding. Biochemistry. 2003;42:10437-44 pubmed
    ..common cause of inherited mental retardation, is caused by the absence of the fragile X mental retardation protein (FMRP)...
  30. Menon R, Gibson T, Pastore A. The C terminus of fragile X mental retardation protein interacts with the multi-domain Ran-binding protein in the microtubule-organising centre. J Mol Biol. 2004;343:43-53 pubmed
    Absence of the fragile X mental retardation protein (FMRP) causes fragile X syndrome, the most common form of hereditary mental retardation...
  31. Collins S, Coffee B, Benke P, Berry Kravis E, Gilbert F, Oostra B, et al. Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype. PLoS ONE. 2010;5:e9476 pubmed publisher
    ..These data suggest that missense mutations in FMR1 are not a common cause of the FXS phenotype in patients who have normal-length CGG-repeat tracts. However, screening for small deletions of FMR1 may be of clinically utility. ..
  32. Sullivan S, Welt C, Sherman S. FMR1 and the continuum of primary ovarian insufficiency. Semin Reprod Med. 2011;29:299-307 pubmed publisher
    ..Understanding the mechanisms responsible for development of FXPOI is paramount to providing these women with the best overall health care. ..
  33. Barasoain M, Barrenetxea G, Huerta I, Télez M, Carrillo A, Perez C, et al. Study of FMR1 gene association with ovarian dysfunction in a sample from the Basque Country. Gene. 2013;521:145-9 pubmed publisher
    Premature ovarian failure (POF) is defined as cessation of menses before the age of 40. The most significant single gene associated with POF is the Fragile X Mental Retardation 1 gene (FMR1)...
  34. Tosh D, Rao K, Rani H, Deenadayal D, Murty U, Grover P. Association between fragile X premutation and premature ovarian failure: a case-control study and meta-analysis. Arch Gynecol Obstet. 2014;289:1255-62 pubmed publisher
    ..aim of the present study was to investigate the association between FMR1 premutation and premature ovarian failure (POF) patients in Indian population, and a meta-analysis of published results was undertaken to clarify whether FMR1 ..
  35. Ceman S, O donnell W, Reed M, Patton S, Pohl J, Warren S. Phosphorylation influences the translation state of FMRP-associated polyribosomes. Hum Mol Genet. 2003;12:3295-305 pubmed
    Fragile X mental retardation protein, FMRP, is absent in patients with fragile X syndrome, a common form of mental retardation. FMRP is a nucleocytoplasmic RNA binding protein that is primarily associated with polyribosomes...
  36. Shinahara K, Saijo T, Mori K, Kuroda Y. Single-strand conformation polymorphism analysis of the FMR1 gene in autistic and mentally retarded children in Japan. J Med Invest. 2004;51:52-8 pubmed
    ..Although uncommon, point mutations in the FMR1 gene may be a cause of autism and mental retardation in Japanese patients. ..
  37. Smith K, Coffee B, Reines D. Occupancy and synergistic activation of the FMR1 promoter by Nrf-1 and Sp1 in vivo. Hum Mol Genet. 2004;13:1611-21 pubmed
    ..These findings provide the first direct in vivo evidence identifying the specific transcription factors that regulate FMR1. ..
  38. Rodriguez Revenga L, Santos M, Sanchez A, Pujol M, Gomez Anson B, Badenas C, et al. Screening for FXTAS in 95 Spanish patients negative for Huntington disease. Genet Test. 2008;12:135-8 pubmed publisher
    ..6%. Our results highlight that FXTAS is still not well diagnosed; therefore, we recommend FMR1 premutation screenings in all patients with late-onset tremor, ataxia, and cognitive dysfunction. ..
  39. Khaniani M, Kalitsis P, Burgess T, Slater H. An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1). Mol Cytogenet. 2008;1:5 pubmed publisher
    ..Use of this PCR test provides significantly improved precision and amplification of longer alleles. The number of follow-up Southern blot tests required is reduced (up to 50%) with consequent improvement in turnaround time and cost. ..
  40. Darnell J, Fraser C, Mostovetsky O, Darnell R. Discrimination of common and unique RNA-binding activities among Fragile X mental retardation protein paralogs. Hum Mol Genet. 2009;18:3164-77 pubmed publisher
    Fragile X mental retardation is caused by loss-of-function of a single gene encoding FMRP, an RNA-binding protein that harbors three canonical RNA-binding domains, two KH-type and one RGG box...
  41. Tassone F, De Rubeis S, Carosi C, La Fata G, Serpa G, Raske C, et al. Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles. Nucleic Acids Res. 2011;39:6172-85 pubmed publisher
    ..Importantly, in both human and mouse, a specific regulation of the UTRs is observed in brain of FMR1 premutation alleles, suggesting that the transcript variants may play a role in premutation-related pathologies. ..
  42. Seltzer M, Baker M, Hong J, Maenner M, Greenberg J, Mandel D. Prevalence of CGG expansions of the FMR1 gene in a US population-based sample. Am J Med Genet B Neuropsychiatr Genet. 2012;159B:589-97 pubmed publisher
    ..Although not statistically significant, premutation carriers were twice as likely to have a child with disability. ..
  43. Allen E, Sullivan A, Marcus M, Small C, Dominguez C, Epstein M, et al. Examination of reproductive aging milestones among women who carry the FMR1 premutation. Hum Reprod. 2007;22:2142-52 pubmed
    ..As expected, premutation carriers were found to be at an increased risk for osteoporosis. Possible molecular mechanisms to explain the non-linear repeat size risk for ovarian insufficiency are discussed. ..
  44. Bourgeois J, Coffey S, Rivera S, Hessl D, Gane L, Tassone F, et al. A review of fragile X premutation disorders: expanding the psychiatric perspective. J Clin Psychiatry. 2009;70:852-62 pubmed publisher
    ..Psychopharmacologic and psychotherapeutic treatment of fragile X-associated psychiatric illnesses may improve patient function and assist in adaptation to the burden of a genetic neuropsychiatric illness. ..
  45. Ishizuka B, Okamoto N, Hamada N, Sugishita Y, Saito J, Takahashi N, et al. Number of CGG repeats in the FMR1 gene of Japanese patients with primary ovarian insufficiency. Fertil Steril. 2011;96:1170-4 pubmed publisher
    ..More than 36 CGG repeats in the FMR1 might intensify the etiology of POI, at least up to the premutation range. ..
  46. Dury A, El Fatimy R, Tremblay S, Rose T, Cote J, De Koninck P, et al. Nuclear Fragile X Mental Retardation Protein is localized to Cajal bodies. PLoS Genet. 2013;9:e1003890 pubmed publisher
    Fragile X syndrome is caused by loss of function of a single gene encoding the Fragile X Mental Retardation Protein (FMRP)...
  47. Tabolacci E, Pietrobono R, Moscato U, Oostra B, Chiurazzi P, Neri G. Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments. Eur J Hum Genet. 2005;13:641-8 pubmed
    ..Treatment with acetyl-L-carnitine (ALC), a compound that reduces the in vitro expression of the FRAXA fragile site without affecting DNA methylation, caused an increase of H3 and H4 acetylation...
  48. Zanotti K, Lackey P, Evans G, Mihailescu M. Thermodynamics of the fragile X mental retardation protein RGG box interactions with G quartet forming RNA. Biochemistry. 2006;45:8319-30 pubmed
    ..transcriptional silencing of the FMR1 gene and, consequently, the loss of the fragile X mental retardation protein (FMRP). FMRP is an RNA binding protein that binds to G quartet forming RNA using its RGG box motif...
  49. Bhattacharyya A, McMillan E, Wallace K, Tubon T, Capowski E, Svendsen C. Normal Neurogenesis but Abnormal Gene Expression in Human Fragile X Cortical Progenitor Cells. Stem Cells Dev. 2008;17:107-17 pubmed publisher
    ..As expected, FX hNPCs have reduced expression of the FMR1 gene product Fragile X mental retardation protein (FMRP), and this decrease is maintained in culture and following differentiation...
  50. Bechara E, Didiot M, Melko M, Davidovic L, Bensaid M, Martin P, et al. A novel function for fragile X mental retardation protein in translational activation. PLoS Biol. 2009;7:e16 pubmed publisher
    ..most frequent form of inherited mental retardation, is due to the absence of Fragile X Mental Retardation Protein (FMRP), an RNA-binding protein involved in several steps of RNA metabolism...
  51. Bardoni B, Castets M, Huot M, Schenck A, Adinolfi S, Corbin F, et al. 82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization. Hum Mol Genet. 2003;12:1689-98 pubmed
    b>FMRP is an RNA binding protein whose absence produces pathological manifestations of the fragile-X syndrome...
  52. Davidovic L, Bechara E, Gravel M, Jaglin X, Tremblay S, Sik A, et al. The nuclear microspherule protein 58 is a novel RNA-binding protein that interacts with fragile X mental retardation protein in polyribosomal mRNPs from neurons. Hum Mol Genet. 2006;15:1525-38 pubmed
    ..to the inactivation of the fragile mental retardation 1 gene (FMR1) and the subsequent absence of its gene product FMRP. This RNA-binding protein is thought to control mRNA translation and its absence in fragile X cells leads to ..
  53. Gheldof N, Tabuchi T, Dekker J. The active FMR1 promoter is associated with a large domain of altered chromatin conformation with embedded local histone modifications. Proc Natl Acad Sci U S A. 2006;103:12463-8 pubmed
    ..The described approaches are widely applicable to the study of conformational changes of any locus of interest. ..
  54. Piazzon N, Rage F, Schlotter F, Moine H, Branlant C, Massenet S. In vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile X mental retardation protein. J Biol Chem. 2008;283:5598-610 pubmed
    ..The defective protein in Fragile X mental retardation syndrome (FMRP) also plays a role in transport of mRNPs and in their translation...
  55. Gleicher N, Weghofer A, Barad D. A pilot study of premature ovarian senescence: I. Correlation of triple CGG repeats on the FMR1 gene to ovarian reserve parameters FSH and anti-Müllerian hormone. Fertil Steril. 2009;91:1700-6 pubmed publisher
    ..premutation (55-200 repeats) and full mutation (>200 repeats) ranges with risk toward premature ovarian failure (POF), also correlates with milder forms of premature ovarian senescence. Retrospective, controlled cohort study...
  56. Garcia Arocena D, Yang J, Brouwer J, Tassone F, Iwahashi C, Berry Kravis E, et al. Fibroblast phenotype in male carriers of FMR1 premutation alleles. Hum Mol Genet. 2010;19:299-312 pubmed publisher
    ..Fibroblast studies may also prove useful in screening and testing the efficacy of therapeutic interventions. ..
  57. El Fatimy R, Tremblay S, Dury A, Solomon S, De Koninck P, Schrader J, et al. Fragile X mental retardation protein interacts with the RNA-binding protein Caprin1 in neuronal RiboNucleoProtein complexes [corrected]. PLoS ONE. 2012;7:e39338 pubmed publisher
    Fragile X syndrome is caused by the absence of the Fragile X Mental Retardation Protein (FMRP), an RNA-binding protein...
  58. Zumwalt M, Ludwig A, Hagerman P, Dieckmann T. Secondary structure and dynamics of the r(CGG) repeat in the mRNA of the fragile X mental retardation 1 (FMR1) gene. RNA Biol. 2007;4:93-100 pubmed
    ..While the AGG repeat lowers the Tm of the hairpin at low Mg2+ concentrations, this difference disappears at physiological Mg2+ levels. ..
  59. Gleicher N, Weghofer A, Barad D. A pilot study of premature ovarian senescence: II. Different genotype and phenotype for genetic and autoimmune etiologies. Fertil Steril. 2009;91:1707-11 pubmed publisher
    ..Abnormal autoimmune function and expansions in triple CGG repeats on the FMR1 gene represent distinctively different etiologies for premature ovarian senescence in infertile patients and may, indeed, constitute its two principal causes. ..
  60. Fähling M, Mrowka R, Steege A, Kirschner K, Benko E, Förstera B, et al. Translational regulation of the human achaete-scute homologue-1 by fragile X mental retardation protein. J Biol Chem. 2009;284:4255-66 pubmed publisher
    ..cause of mental retardation that results from loss or mutation of the fragile X mental retardation protein (FMRP)...
  61. Mitchell R, Holden J, Zhang C, Curlis Y, Slater H, Burgess T, et al. FMR1 alleles in Tasmania: a screening study of the special educational needs population. Clin Genet. 2005;67:38-46 pubmed
    ..The eight to ten generations since white settlement of Tasmania has been insufficient time for susceptible grey zone alleles to evolve into the larger expansions. ..
  62. Willemsen R, Levenga J, Oostra B. CGG repeat in the FMR1 gene: size matters. Clin Genet. 2011;80:214-25 pubmed publisher
    ..The absence of FMR1 protein, FMRP, seen in FM is the cause of the mental retardation in patients with FXS...
  63. Gabus C, Mazroui R, Tremblay S, Khandjian E, Darlix J. The fragile X mental retardation protein has nucleic acid chaperone properties. Nucleic Acids Res. 2004;32:2129-37 pubmed
    ..cause of inherited mental retardation resulting from the absence of the fragile X mental retardation protein (FMRP)...
  64. Napierala M, Michalowski D, de Mezer M, Krzyzosiak W. Facile FMR1 mRNA structure regulation by interruptions in CGG repeats. Nucleic Acids Res. 2005;33:451-63 pubmed
    ..We postulate that interruption-dependent structure variants of the FMR1 mRNA contribute to the phenotype diversity, observed in premutation carriers. ..
  65. Davidovic L, Jaglin X, Lepagnol Bestel A, Tremblay S, Simonneau M, Bardoni B, et al. The fragile X mental retardation protein is a molecular adaptor between the neurospecific KIF3C kinesin and dendritic RNA granules. Hum Mol Genet. 2007;16:3047-58 pubmed
    Fragile X mental retardation 1 protein (FMRP) is an RNA-binding protein whose absence results in the fragile X syndrome, the most common inherited form of mental retardation...
  66. Lledó B, Guerrero J, Ortiz J, Morales R, Ten J, Llacer J, et al. Intermediate and normal sized CGG repeat on the FMR1 gene does not negatively affect donor ovarian response. Hum Reprod. 2012;27:609-14 pubmed publisher
    ..These results disagree with previous studies performed on infertility patients. Owing to the present study, fragile X genetic screening should not be considered for prediction of response to ovarian stimulation. ..
  67. Van Esch H, Dom R, Bex D, Salden I, Caeckebeke J, Wibail A, et al. Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia. Eur J Hum Genet. 2005;13:121-3 pubmed
    ..In light of these figures, we recommend that FMR-1 analysis should be included in the molecular diagnostic work-up in the group of male ataxia patients older than 50 years. ..
  68. Gleicher N, Weghofer A, Oktay K, Barad D. Relevance of triple CGG repeats in the FMR1 gene to ovarian reserve. Reprod Biomed Online. 2009;19:385-90 pubmed
    ..001). Approximately 29-30 CGG repeats appear reflective of normal ovarian reserve, with higher and lower counts denoting similar risks towards premature ovarian senescence. ..
  69. Bourgeois J, Seritan A, Casillas E, Hessl D, Schneider A, Yang Y, et al. Lifetime prevalence of mood and anxiety disorders in fragile X premutation carriers. J Clin Psychiatry. 2011;72:175-82 pubmed publisher
    ..Clinicians encountering these patients are advised to consider FXTAS as a neuropsychiatric syndrome as well as a neurologic disorder. ..
  70. Lanni S, Goracci M, Borrelli L, Mancano G, Chiurazzi P, Moscato U, et al. Role of CTCF protein in regulating FMR1 locus transcription. PLoS Genet. 2013;9:e1003601 pubmed publisher
    ..We conclude that CTCF has a complex role in regulating FMR1 expression, probably through the organization of chromatin loops between sense/antisense transcriptional regulatory regions, as suggested by bioinformatics analysis. ..
  71. Brussino A, Gellera C, Saluto A, Mariotti C, Arduino C, Castellotti B, et al. FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia. Neurology. 2005;64:145-7 pubmed
    ..FXTAS accounted for 4.2% of the cases diagnosed at >50 years, suggesting that it is a frequent genetic cause of late-onset sporadic ataxia. ..
  72. Ramos A, Hollingworth D, Adinolfi S, Castets M, Kelly G, Frenkiel T, et al. The structure of the N-terminal domain of the fragile X mental retardation protein: a platform for protein-protein interaction. Structure. 2006;14:21-31 pubmed
    b>FMRP, whose lack of expression causes the X-linked fragile X syndrome, is a modular RNA binding protein thought to be involved in posttranslational regulation...
  73. Gleicher N, Weghofer A, Oktay K, Barad D. Correlation of triple repeats on the FMR1 (fragile X) gene to ovarian reserve: a new infertility test?. Acta Obstet Gynecol Scand. 2009;88:1024-30 pubmed publisher
    ..The number of CGG repeats on the FMR1 gene appears to represent a potentially useful new test in diagnosing risk toward diminished ovarian reserve and female infertility. ..
  74. Kumari D, Usdin K. The distribution of repressive histone modifications on silenced FMR1 alleles provides clues to the mechanism of gene silencing in fragile X syndrome. Hum Mol Genet. 2010;19:4634-42 pubmed publisher
    ..This suggests that the trigger for gene silencing may be local to the repeat itself and perhaps involves a mechanism similar to that involved in the formation of pericentric heterochromatin. ..
  75. Colak D, Zaninovic N, Cohen M, Rosenwaks Z, Yang W, Gerhardt J, et al. Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome. Science. 2014;343:1002-5 pubmed publisher
    ..Thus, our data link trinucleotide-repeat expansion to a form of RNA-directed gene silencing mediated by direct interactions of the trinucleotide-repeat RNA and DNA. ..
  76. Coffee B, Ikeda M, Budimirovic D, Hjelm L, Kaufmann W, Warren S. Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature. Am J Med Genet A. 2008;146A:1358-67 pubmed publisher
    ..The result is the same for both the expansion mediated silencing and deletion, absence of the gene product, FMRP. We report here on an 11-year-old boy with a cognitive and behavioral profile with features compatible with, but ..
  77. Tabolacci E, Moscato U, Zalfa F, Bagni C, Chiurazzi P, Neri G. Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations. Eur J Hum Genet. 2008;16:1487-98 pubmed publisher
    ..The discovery of such a mechanism may be important in view of therapeutic attempts to convert methylated into unmethylated full mutations, restoring the expression of the FMR1 gene. ..
  78. Chatterjee S, Maitra A, Kadam S, Patel Z, Gokral J, Meherji P. CGG repeat sizing in the FMR1 gene in Indian women with premature ovarian failure. Reprod Biomed Online. 2009;19:281-6 pubmed
    ..Expansion of the repeats to the premutation range (50-200) has been associated with premature ovarian failure (POF)...
  79. Roberts J, Bailey D, Mankowski J, Ford A, Sideris J, Weisenfeld L, et al. Mood and anxiety disorders in females with the FMR1 premutation. Am J Med Genet B Neuropsychiatr Genet. 2009;150B:130-9 pubmed publisher
  80. Gleicher N, Weghofer A, Oktay K, Barad D. Is the immunological noise of abnormal autoimmunity an independent risk factor for premature ovarian aging?. Menopause. 2009;16:760-4 pubmed publisher
    ..Evidence of abnormal autoimmune function, such as increased CGG triple expansion sizes, in young women, therefore, warrants vigilance for development of prematurely diminished ovarian reserve and infertility. ..
  81. Bennett C, Conway G, Macpherson J, Jacobs P, Murray A. Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure. Hum Reprod. 2010;25:1335-8 pubmed publisher
    It is recognized that FMR1 premutation expansions are associated with premature ovarian failure (POF), but the role of smaller repeats at the boundary of premutation and normal is less clear...
  82. De Rubeis S, Fernandez E, Buzzi A, Di Marino D, Bagni C. Molecular and cellular aspects of mental retardation in the Fragile X syndrome: from gene mutation/s to spine dysmorphogenesis. Adv Exp Med Biol. 2012;970:517-51 pubmed publisher
    ..The disease is due to mutations or loss of the Fragile X Mental Retardation Protein (FMRP), an RNA-binding protein abundant in the brain and gonads, the two organs mainly affected in FXS patients...
  83. Lu C, Lin L, Tan H, Wu H, Sherman S, Gao F, et al. Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice. Hum Mol Genet. 2012;21:5039-47 pubmed publisher
    ..These results together suggest that FMR1 premutation RNA could cause the POI associated with FMR1 premutation carriers, and the Akt/mTOR pathway may serve as a therapeutic target for FXPOI. ..
  84. Ricci M, Pennese L, Gismondi V, Perfumo C, Grasso M, Gennaro E, et al. The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutations. Eur J Hum Genet. 2014;22:280-2 pubmed publisher
    ..997) and no difference in the FMR1 genotype distribution was present (?(2)=0.503, d.f.=2, P=0.78). This result is in contrast with literature data and suggests that FMR1 genetic testing is not a candidate BRCA prescreening tool. ..
  85. Gerhardt J, Tomishima M, Zaninovic N, Colak D, Yan Z, Zhan Q, et al. The DNA replication program is altered at the FMR1 locus in fragile X embryonic stem cells. Mol Cell. 2014;53:19-31 pubmed publisher
  86. De Diego Otero Y, Severijnen L, van Cappellen G, Schrier M, Oostra B, Willemsen R. Transport of fragile X mental retardation protein via granules in neurites of PC12 cells. Mol Cell Biol. 2002;22:8332-41 pubmed
    Lack of fragile X mental retardation protein (FMRP) causes fragile X syndrome, a common form of inherited mental retardation...
  87. Dolzhanskaya N, Merz G, Aletta J, Denman R. Methylation regulates the intracellular protein-protein and protein-RNA interactions of FMRP. J Cell Sci. 2006;119:1933-46 pubmed
    b>FMRP, the fragile X mental retardation protein, is an RNA-binding protein that interacts with approximately 4% of fetal brain mRNA...
  88. Gray S, Gerhardt J, Doerfler W, Small L, Fanning E. An origin of DNA replication in the promoter region of the human fragile X mental retardation (FMR1) gene. Mol Cell Biol. 2007;27:426-37 pubmed
    ..in males, arises when the normally stable 5 to 50 CGG repeats in the 5' untranslated region of the fragile X mental retardation protein 1 (FMR1) gene expand to over 200, leading to DNA methylation and silencing of the FMR1 promoter...
  89. Tassone F, Iwahashi C, Hagerman P. FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS). RNA Biol. 2004;1:103-5 pubmed
    ..Consistent with this model, we have now identified FMR1 mRNA within the intranuclear inclusions isolated from post-mortem (FXTAS) brain tissue...
  90. Christie S, Akins M, Schwob J, Fallon J. The FXG: a presynaptic fragile X granule expressed in a subset of developing brain circuits. J Neurosci. 2009;29:1514-24 pubmed publisher
    The loss of Fragile X mental retardation protein (FMRP) causes Fragile X syndrome, the most common inherited mental retardation and single gene cause of autism...
  91. Gleicher N, Weghofer A, Barad D. Ovarian reserve determinations suggest new function of FMR1 (fragile X gene) in regulating ovarian ageing. Reprod Biomed Online. 2010;20:768-75 pubmed publisher
    ..This function of potential evolutionary importance may explain the preservation of the FMR1 gene despite its, at times, severe neuropsychiatric risks. ..
  92. Rodriguez Revenga L, Pagonabarraga J, Gomez Anson B, López Mourelo O, Madrigal I, Xunclà M, et al. Motor and mental dysfunction in mother-daughter transmitted FXTAS. Neurology. 2010;75:1370-6 pubmed publisher
    ..included CGG repeat length, X-chromosome inactivation pattern determination, as well as FMR1 mRNA and FMRP levels quantification. Neuroradiologic examination was performed by 3-T MRI...