Zaloguj się

Gotowe bibliografie tematyczne / FMR1 protein / Artykuły w czasopismach

Kliknij ten link, aby zobaczyć inne rodzaje publikacji na ten temat: FMR1 protein.

Artykuły w czasopismach na temat „FMR1 protein”

Autor: Grafiati

Data publikacji: 3 czerwca 2025

Data aktualizacji: 31 lipca 2025

Utwórz poprawne odniesienie w stylach APA, MLA, Chicago, Harvard i wielu innych

Wybierz rodzaj źródła:

Sprawdź 50 najlepszych artykułów w czasopismach naukowych na temat „FMR1 protein”.

Przycisk „Dodaj do bibliografii” jest dostępny obok każdej pracy w bibliografii. Użyj go – a my automatycznie utworzymy odniesienie bibliograficzne do wybranej pracy w stylu cytowania, którego potrzebujesz: APA, MLA, Harvard, Chicago, Vancouver itp.

Możesz również pobrać pełny tekst publikacji naukowej w formacie „.pdf” i przeczytać adnotację do pracy online, jeśli odpowiednie parametry są dostępne w metadanych.

Przeglądaj artykuły w czasopismach z różnych dziedzin i twórz odpowiednie bibliografie.

1

Khandjian, Edouard W. "Biology of the fragile X mental retardation protein, an RNA-binding protein." Biochemistry and Cell Biology 77, no. 4 (1999): 331–42. http://dx.doi.org/10.1139/o99-035.

Pełny tekst źródła

Streszczenie:

The fragile X syndrome, an X-linked disease, is the most frequent cause of inherited mental retardation. The syndrome results from the absence of expression of the FMR1 gene (fragile mental retardation 1) owing to the expansion of a CGG trinucleotide repeat located in the 5prime untranslated region of the gene and the subsequent methylation of its CpG island. The FMR1 gene product (FMRP) is a cytoplasmic protein that contains two KH domains and one RGG box, characteristics of RNA-binding proteins. FMRP is associated with mRNP complexes containing poly(A)+mRNA within actively translating polyri

Style APA, Harvard, Vancouver, ISO itp.

2

Nguyen, Xuan Phuoc, Adriana Vilkaite, Ulrike Bender, et al. "Regulation of Bone Morphogenetic Protein Receptor Type II Expression by FMR1/Fragile X Mental Retardation Protein in Human Granulosa Cells in the Context of Poor Ovarian Response." International Journal of Molecular Sciences 25, no. 19 (2024): 10643. http://dx.doi.org/10.3390/ijms251910643.

Pełny tekst źródła

Streszczenie:

Fragile X mental retardation protein (FMRP) is a translational repressor encoded by FMR1. It targets bone morphogenetic protein receptor type II (BMPR2), which regulates granulosa cell (GC) function and follicle development. However, whether this interaction affects folliculogenesis remains unclear. Therefore, this study investigated the potential effect of FMRP-BMPR2 dysregulation in ovarian reserves and infertility. COV434 cells and patient-derived GCs were used to evaluate FMRP and BMPR2 expression. Similarly, FMR1, BMPR2, LIMK1, and SMAD expression were evaluated in GCs with normal (NOR) a

Style APA, Harvard, Vancouver, ISO itp.

3

Nosyreva, Elena D., and Kimberly M. Huber. "Metabotropic Receptor-Dependent Long-Term Depression Persists in the Absence of Protein Synthesis in the Mouse Model of Fragile X Syndrome." Journal of Neurophysiology 95, no. 5 (2006): 3291–95. http://dx.doi.org/10.1152/jn.01316.2005.

Pełny tekst źródła

Streszczenie:

Fragile X syndrome (FXS), a form of human mental retardation, is caused by loss of function mutations in the fragile X mental retardation gene ( FMR1). The protein product of FMR1, fragile X mental retardation protein (FMRP) is an RNA-binding protein and may function as a translational suppressor. Metabotropic glutamate receptor–dependent long-term depression (mGluR-LTD) in hippocampal area CA1 is a form of synaptic plasticity that relies on dendritic protein synthesis. mGluR-LTD is enhanced in the mouse model of FXS, Fmr1 knockout (KO) mice, suggesting that FMRP negatively regulates translati

Style APA, Harvard, Vancouver, ISO itp.

4

Zhang, Jing, Lingfei Hou, Eric Klann, and David L. Nelson. "Altered Hippocampal Synaptic Plasticity in the Fmr1 Gene Family Knockout Mouse Models." Journal of Neurophysiology 101, no. 5 (2009): 2572–80. http://dx.doi.org/10.1152/jn.90558.2008.

Pełny tekst źródła

Streszczenie:

Fragile X syndrome (FXS) is the most common form of inherited mental retardation. The syndrome results from the absence of the fragile X mental retardation protein (FMRP), which is encoded by the fragile X mental retardation 1 ( FMR1) gene. FMR1 and its two paralogs, fragile X–related genes 1 and 2 ( FXR1 and -2), form the Fmr1 gene family. Here, we examined long-lasting synaptic plasticity in Fmr1 knockout, Fxr2 knockout, and Fmr1/ Fxr2 double knockout mice. We found that metabotropic glutamate receptor–dependent long-term depression (mGluR-LTD) in the hippocampus was affected in Fmr1 knockou

Style APA, Harvard, Vancouver, ISO itp.

5

Saré, Rachel, Christopher Figueroa, Abigail Lemons, Inna Loutaev, and Carolyn Beebe Smith. "Comparative Behavioral Phenotypes of Fmr1 KO, Fxr2 Het, and Fmr1 KO/Fxr2 Het Mice." Brain Sciences 9, no. 1 (2019): 13. http://dx.doi.org/10.3390/brainsci9010013.

Pełny tekst źródła

Streszczenie:

Fragile X syndrome (FXS) is caused by silencing of the FMR1 gene leading to loss of the protein product fragile X mental retardation protein (FMRP). FXS is the most common monogenic cause of intellectual disability. There are two known mammalian paralogs of FMRP, FXR1P, and FXR2P. The functions of FXR1P and FXR2P and their possible roles in producing or modulating the phenotype observed in FXS are yet to be identified. Previous studies have revealed that mice lacking Fxr2 display similar behavioral abnormalities as Fmr1 knockout (KO) mice. In this study, we expand upon the behavioral phenotype

Style APA, Harvard, Vancouver, ISO itp.

6

Randol, Jamie L., Kyoungmi Kim, Matthew D. Ponzini, et al. "Variation of FMRP Expression in Peripheral Blood Mononuclear Cells from Individuals with Fragile X Syndrome." Genes 15, no. 3 (2024): 356. http://dx.doi.org/10.3390/genes15030356.

Pełny tekst źródła

Streszczenie:

Fragile X syndrome (FXS) is the most common heritable cause of intellectual disability and autism spectrum disorder. The syndrome is often caused by greatly reduced or absent protein expression from the fragile X messenger ribonucleoprotein 1 (FMR1) gene due to expansion of a 5′-non-coding trinucleotide (CGG) element beyond 200 repeats (full mutation). To better understand the complex relationships among FMR1 allelotype, methylation status, mRNA expression, and FMR1 protein (FMRP) levels, FMRP was quantified in peripheral blood mononuclear cells for a large cohort of FXS (n = 154) and control

Style APA, Harvard, Vancouver, ISO itp.

7

Siomi, M. C., Y. Zhang, H. Siomi, and G. Dreyfuss. "Specific sequences in the fragile X syndrome protein FMR1 and the FXR proteins mediate their binding to 60S ribosomal subunits and the interactions among them." Molecular and Cellular Biology 16, no. 7 (1996): 3825–32. http://dx.doi.org/10.1128/mcb.16.7.3825.

Pełny tekst źródła

Streszczenie:

Fragile X syndrome, the most common form of hereditary mental retardation, usually results from lack of expression of the FMR1 gene. The FMR1 protein is a cytoplasmic RNA-binding protein. The RNA-binding activity of FMR1 is an essential feature of FMR1, as fragile X syndrome can also result from the expression of mutant FMR1 protein that is impaired in RNA binding. Recently, we described two novel cytoplasmic proteins, FXR1 and FXR2, which are both very similar in amino acid sequence to FMR1 and which also interact strongly with FMR1 and with each other. To understand the function of FMR1 and

Style APA, Harvard, Vancouver, ISO itp.

8

Budimirovic, Dejan B., Annette Schlageter, Stela Filipovic-Sadic, et al. "A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments." Brain Sciences 10, no. 10 (2020): 694. http://dx.doi.org/10.3390/brainsci10100694.

Pełny tekst źródła

Streszczenie:

Fragile X syndrome (FXS) is caused by silencing of the FMR1 gene, which encodes a protein with a critical role in synaptic plasticity. The molecular abnormality underlying FMR1 silencing, CGG repeat expansion, is well characterized; however, delineation of the pathway from DNA to RNA to protein using biosamples from well characterized patients with FXS is limited. Since FXS is a common and prototypical genetic disorder associated with intellectual disability (ID) and autism spectrum disorder (ASD), a comprehensive assessment of the FMR1 DNA-RNA-protein pathway and its correlations with the neu

Style APA, Harvard, Vancouver, ISO itp.

9

Bale, Shyam Sundhar, Nima Saeidi, Srivatsan Kidambi, Martin L. Yarmush, and Monica Casali. "FMR1 Deficiency Alters Self-Renewal and Proliferation of Mouse Embryonic Cells." Nano LIFE 05, no. 02 (2015): 1550003. http://dx.doi.org/10.1142/s1793984415500038.

Pełny tekst źródła

Streszczenie:

The regulation of embryonic stem (ES) cell self-renewal and pluripotency is based upon highly orchestrated transcription factor networks. RNA inhibition has been demonstrated to affect ES cell function by altering gene expression levels that are critical to the maintenance and differentiation of ES cells. Fragile X mental retardation protein (FMRP) is a selective RNA-binding protein that can act as a translational repressor for bound mRNA and regulates the expression of a variety of gene transcripts in numerous adult cells. The absence of FMRP results in the most common form of inherited intel

Style APA, Harvard, Vancouver, ISO itp.

10

Kumari, Daman, Inbal Gazy, and Karen Usdin. "Pharmacological Reactivation of the Silenced FMR1 Gene as a Targeted Therapeutic Approach for Fragile X Syndrome." Brain Sciences 9, no. 2 (2019): 39. http://dx.doi.org/10.3390/brainsci9020039.

Pełny tekst źródła

Streszczenie:

More than ~200 CGG repeats in the 5′ untranslated region of the FMR1 gene results in transcriptional silencing and the absence of the FMR1 encoded protein, FMRP. FMRP is an RNA-binding protein that regulates the transport and translation of a variety of brain mRNAs in an activity-dependent manner. The loss of FMRP causes dysregulation of many neuronal pathways and results in an intellectual disability disorder, fragile X syndrome (FXS). Currently, there is no effective treatment for FXS. In this review, we discuss reactivation of the FMR1 gene as a potential approach for FXS treatment with an

Style APA, Harvard, Vancouver, ISO itp.

11

Maussion, Gilles, Cecilia Rocha, Narges Abdian, et al. "Transcriptional Dysregulation and Impaired Neuronal Activity in FMR1 Knock-Out and Fragile X Patients’ iPSC-Derived Models." International Journal of Molecular Sciences 24, no. 19 (2023): 14926. http://dx.doi.org/10.3390/ijms241914926.

Pełny tekst źródła

Streszczenie:

Fragile X syndrome (FXS) is caused by a repression of the FMR1 gene that codes the Fragile X mental retardation protein (FMRP), an RNA binding protein involved in processes that are crucial for proper brain development. To better understand the consequences of the absence of FMRP, we analyzed gene expression profiles and activities of cortical neural progenitor cells (NPCs) and neurons obtained from FXS patients’ induced pluripotent stem cells (IPSCs) and IPSC-derived cells from FMR1 knock-out engineered using CRISPR-CAS9 technology. Multielectrode array recordings revealed in FMR1 KO and FXS

Style APA, Harvard, Vancouver, ISO itp.

12

Wan, Lili, Thomas C. Dockendorff, Thomas A. Jongens, and Gideon Dreyfuss. "Characterization of dFMR1, a Drosophila melanogaster Homolog of the Fragile X Mental Retardation Protein." Molecular and Cellular Biology 20, no. 22 (2000): 8536–47. http://dx.doi.org/10.1128/mcb.20.22.8536-8547.2000.

Pełny tekst źródła

Streszczenie:

ABSTRACT Fragile X syndrome is the most common inherited form of mental retardation. It is caused by loss of FMR1 gene activity due to either lack of expression or expression of a mutant form of the protein. In mammals, FMR1 is a member of a small protein family that consists of FMR1, FXR1, and FXR2. All three members bind RNA and contain sequence motifs that are commonly found in RNA-binding proteins, including two KH domains and an RGG box. The FMR1/FXR proteins also contain a 60S ribosomal subunit interaction domain and a protein-protein interaction domain which mediates homomer and heterom

Style APA, Harvard, Vancouver, ISO itp.

13

Jung, Suna, Sneha Shah, Geongoo Han, and Joel D. Richter. "FMRP deficiency leads to multifactorial dysregulation of splicing and mislocalization of MBNL1 to the cytoplasm." PLOS Biology 21, no. 12 (2023): e3002417. http://dx.doi.org/10.1371/journal.pbio.3002417.

Pełny tekst źródła

Streszczenie:

Fragile X syndrome (FXS) is a neurodevelopmental disorder that is often modeled in Fmr1 knockout mice where the RNA-binding protein FMRP is absent. Here, we show that in Fmr1-deficient mice, RNA mis-splicing occurs in several brain regions and peripheral tissues. To assess molecular mechanisms of splicing mis-regulation, we employed N2A cells depleted of Fmr1. In the absence of FMRP, RNA-specific exon skipping events are linked to the splicing factors hnRNPF, PTBP1, and MBNL1. FMRP regulates the translation of Mbnl1 mRNA as well as Mbnl1 RNA auto-splicing. Elevated Mbnl1 auto-splicing in FMRP-

Style APA, Harvard, Vancouver, ISO itp.

14

Auerbach, Benjamin D., and Mark F. Bear. "Loss of the Fragile X Mental Retardation Protein Decouples Metabotropic Glutamate Receptor Dependent Priming of Long-Term Potentiation From Protein Synthesis." Journal of Neurophysiology 104, no. 2 (2010): 1047–51. http://dx.doi.org/10.1152/jn.00449.2010.

Pełny tekst źródła

Streszczenie:

Fragile X Syndrome (FXS), the most common inherited form of intellectual disability, is caused by loss of the fragile X mental retardation protein (FMRP). FMRP is a negative regulator of local mRNA translation downstream of group 1 metabotropic glutamate receptor (Gp1 mGluR) activation. In the absence of FMRP there is excessive mGluR-dependent protein synthesis, resulting in exaggerated mGluR-dependent long-term synaptic depression (LTD) in area CA1 of the hippocampus. Understanding disease pathophysiology is critical for development of therapies for FXS and the question arises of whether it i

Style APA, Harvard, Vancouver, ISO itp.

15

Dolskiy, Alexander A., Vladimir O. Pustylnyak, Andrey A. Yarushkin, Natalya A. Lemskaya, and Dmitry V. Yudkin. "Inhibitors of Histone Deacetylases Are Weak Activators of the FMR1 Gene in Fragile X Syndrome Cell Lines." BioMed Research International 2017 (2017): 1–5. http://dx.doi.org/10.1155/2017/3582601.

Pełny tekst źródła

Streszczenie:

Fragile X syndrome is the most common cause of inherited intellectual disability in humans. It is a result of CGG repeat expansion in the 5′ untranslated region (5′ UTR) of the FMR1 gene. This gene encodes the FMRP protein that is involved in neuronal development. Repeat expansion leads to heterochromatinization of the promoter, gene silencing, and the subsequent absence of FMRP. To date, there is no specific therapy for the syndrome. All treatments in clinic practice provide symptomatic therapy. The development of drug therapy for Fragile X syndrome treatment is connected with the search for

Style APA, Harvard, Vancouver, ISO itp.

16

Tang, Bin, Tingting Wang, Huida Wan, et al. "Fmr1 deficiency promotes age-dependent alterations in the cortical synaptic proteome." Proceedings of the National Academy of Sciences 112, no. 34 (2015): E4697—E4706. http://dx.doi.org/10.1073/pnas.1502258112.

Pełny tekst źródła

Streszczenie:

Fragile X syndrome (FXS) is an X-linked neurodevelopmental disorder characterized by severe intellectual disability and other symptoms including autism. Although caused by the silencing of a single gene, Fmr1 (fragile X mental retardation 1), the complexity of FXS pathogenesis is amplified because the encoded protein, FMRP, regulates the activity-dependent translation of numerous mRNAs. Although the mRNAs that associate with FMRP have been extensively studied, little is known regarding the proteins whose expression levels are altered, directly or indirectly, by loss of FMRP during brain develo

Style APA, Harvard, Vancouver, ISO itp.

17

Zhou, Renbin, Hao Lin, Xinyu Dou, et al. "FMR1: A Neurodevelopmental Factor Regulating Cell Metabolism in the Tumor Microenvironment." Biomolecules 15, no. 6 (2025): 779. https://doi.org/10.3390/biom15060779.

Pełny tekst źródła

Streszczenie:

The Fragile X Mental Retardation 1 (FMR1) gene is well-known for its role in Fragile X syndrome, a neurodevelopmental disorder, but emerging evidence suggests its involvement in regulating cellular metabolism, with implications for cancer biology. FMR1 encodes the Fragile X mental retardation protein (FMRP), an RNA-binding protein that controls various cellular processes, including translation, synaptic plasticity, and RNA metabolism. Recent studies have uncovered novel links between FMR1, metabolic regulation, and tumorigenesis. This review discusses the role of FMR1 in cellular metabolism an

Style APA, Harvard, Vancouver, ISO itp.

18

Clifton, Nicholas E., Kerrie L. Thomas, Lawrence S. Wilkinson, Jeremy Hall, and Simon Trent. "FMRP and CYFIP1 at the Synapse and Their Role in Psychiatric Vulnerability." Complex Psychiatry 6, no. 1-2 (2020): 5–19. http://dx.doi.org/10.1159/000506858.

Pełny tekst źródła

Streszczenie:

There is increasing awareness of the role genetic risk variants have in mediating vulnerability to psychiatric disorders such as schizophrenia and autism. Many of these risk variants encode synaptic proteins, influencing biological pathways of the postsynaptic density and, ultimately, synaptic plasticity. Fragile-X mental retardation 1 (FMR1) and cytoplasmic fragile-X mental retardation protein (FMRP)-interacting protein 1 (CYFIP1) contain 2 such examples of highly penetrant risk variants and encode synaptic proteins with shared functional significance. In this review, we discuss the biologica

Style APA, Harvard, Vancouver, ISO itp.

19

Rajaratnam, Akash, Jasdeep Shergill, Maria Salcedo-Arellano, Wilmar Saldarriaga, Xianlai Duan, and Randi Hagerman. "Fragile X syndrome and fragile X-associated disorders." F1000Research 6 (December 8, 2017): 2112. http://dx.doi.org/10.12688/f1000research.11885.1.

Pełny tekst źródła

Streszczenie:

Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections; its deficiency may result in a range of intellectual disabilities, social deficits, psychiatric problems, and dysmorphic physical features. A range of clinical involvement is also associated with the FMR1 premutation, including fragile X-associated tremor ataxia syndrome, fragile X-associated primary ovarian insufficiency, psychiatric problems

Style APA, Harvard, Vancouver, ISO itp.

20

Yang, Liu-kun, Liang Lu, Ban Feng, et al. "FMRP acts as a key messenger for visceral pain modulation." Molecular Pain 16 (January 2020): 174480692097224. http://dx.doi.org/10.1177/1744806920972241.

Pełny tekst źródła

Streszczenie:

Visceral pain is a common clinical symptom, which is caused by mechanical stretch, spasm, ischemia and inflammation. Fragile X syndrome (FXS) with lack of fragile X mental retardation protein (FMRP) protein is an inherited disorder that is characterized by moderate or severe intellectual and developmental disabilities. Previous studies reported that FXS patients have self-injurious behavior, which may be associated with deficits in nociceptive sensitization. However, the role of FMRP in visceral pain is still unclear. In this study, the FMR1 knock out (KO) mice and SH-SY5Y cell line were emplo

Style APA, Harvard, Vancouver, ISO itp.

21

Roth, Mark, Lucienne Ronco, Diego Cadavid, Blythe Durbin-Johnson, Randi J. Hagerman, and Flora Tassone. "FMRP Levels in Human Peripheral Blood Leukocytes Correlates with Intellectual Disability." Diagnostics 11, no. 10 (2021): 1780. http://dx.doi.org/10.3390/diagnostics11101780.

Pełny tekst źródła

Streszczenie:

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability. FXS is an X-linked, neurodevelopmental disorder caused by a CGG trinucleotide repeat expansion in the 5′ untranslated region (UTR) of the Fragile X Mental Retardation gene, FMR1. Greater than 200 CGG repeats results in epigenetic silencing of the gene leading to the deficiency or absence of Fragile X mental retardation protein (FMRP). The loss of FMRP is considered the root cause of FXS. The relationship between neurological function and FMRP expression in peripheral blood mononuclear cells (PBMCs) has not b

Style APA, Harvard, Vancouver, ISO itp.

22

Merlin, Lisa R. "The Fragile X Mental Retardation Protein: A Valuable Partner in the Battle against Epileptogenesis." Epilepsy Currents 9, no. 4 (2009): 116–18. http://dx.doi.org/10.1111/j.1535-7511.2009.01311.x.

Pełny tekst źródła

Streszczenie:

Correction of Fragile X Syndrome in Mice. Dölen G, Osterweil E, Rao BSS, Smith GB, Auerbach BD, Chattarji S, Bear MF. Neuron 2007;56:955–962. Fragile X syndrome (FXS) is the most common form of heritable mental retardation and the leading identified cause of autism. FXS is caused by transcriptional silencing of the FMR1 gene that encodes the fragile X mental retardation protein (FMRP), but the pathogenesis of the disease is unknown. According to one proposal, many psychiatric and neurological symptoms of FXS result from unchecked activation of mGluR5, a metabotropic glutamate receptor. To test

Style APA, Harvard, Vancouver, ISO itp.

23

Maurin, Thomas, Francesca Melancia, Marielle Jarjat, et al. "Involvement of Phosphodiesterase 2A Activity in the Pathophysiology of Fragile X Syndrome." Cerebral Cortex 29, no. 8 (2018): 3241–52. http://dx.doi.org/10.1093/cercor/bhy192.

Pełny tekst źródła

Streszczenie:

Abstract The fragile X mental retardation protein (FMRP) is an RNA-binding protein involved in translational regulation of mRNAs that play key roles in synaptic morphology and plasticity. The functional absence of FMRP causes the fragile X syndrome (FXS), the most common form of inherited intellectual disability and the most common monogenic cause of autism. No effective treatment is available for FXS. We recently identified the Phosphodiesterase 2A (Pde2a) mRNA as a prominent target of FMRP. PDE2A enzymatic activity is increased in the brain of Fmr1-KO mice, a recognized model of FXS, leading

Style APA, Harvard, Vancouver, ISO itp.

24

Kikkawa, *Takako, Sara Ebrahimiazar, and Noriko Osumi. "ABSENCE OF FMRP MODULATES BRAIN DEVELOPMENT IN A SEX- SPECIFIC MANNER." International Journal of Neuropsychopharmacology 28, Supplement_1 (2025): i66. https://doi.org/10.1093/ijnp/pyae059.113.

Pełny tekst źródła

Streszczenie:

Abstract Background Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by mutations in the FMR1 gene, leading to the absence of Fragile X mental retardation protein (FMRP), an RNA-binding protein. There is sex-specificity in the symptoms of FXS patients, such as social interaction defects in female patients (Reiss et al., 1988). Sex-specific behaviors are also observed in Fmr1-knockout (KO) mice, such as more repetitive behavior in females (Nolan et al., 2017). The expression of FMRP starts from the embryonic stage and localizes to the neural stem/progenitor cells and neurons, co

Style APA, Harvard, Vancouver, ISO itp.

25

Villa, Pedro, Nancy Lainez, Iryna Ethell, and Djurdjica Coss. "Overactive Reproductive Axis Due to Fragile X Gene Mutation." Journal of the Endocrine Society 5, Supplement_1 (2021): A547. http://dx.doi.org/10.1210/jendso/bvab048.1114.

Pełny tekst źródła

Streszczenie:

Abstract Women carrying a pre-mutation or mutation of the Fragile X mental retardation gene (FMR1) comprise the largest portion of premature ovarian failure (POF) cases due to known genetic factors. FMR1 mutation causes Fragile X syndrome, the most common cause of inherited mental impairment. The mutation inhibits the expression of the fragile X mental retardation protein (FMRP), a ubiquitously expressed mRNA binding protein. The specific molecular mechanism(s) leading to premature ovarian failure in Fragile X carriers are not known. Here, we utilize the complete KO mouse model, to mimic the l

Style APA, Harvard, Vancouver, ISO itp.

26

Taha, Mohamed S., and Mohammad Reza Ahmadian. "Fragile X Messenger Ribonucleoprotein Protein and Its Multifunctionality: From Cytosol to Nucleolus and Back." Biomolecules 14, no. 4 (2024): 399. http://dx.doi.org/10.3390/biom14040399.

Pełny tekst źródła

Streszczenie:

Silencing of the fragile X messenger ribonucleoprotein 1 (FMR1) gene and a consequent lack of FMR protein (FMRP) synthesis are associated with fragile X syndrome, one of the most common inherited intellectual disabilities. FMRP is a multifunctional protein that is involved in many cellular functions in almost all subcellular compartments under both normal and cellular stress conditions in neuronal and non-neuronal cell types. This is achieved through its trafficking signals, nuclear localization signal (NLS), nuclear export signal (NES), and nucleolar localization signal (NoLS), as well as its

Style APA, Harvard, Vancouver, ISO itp.

27

Liao, Lujian, Sung Kyu Park, Tao Xu, Peter Vanderklish, and John R. Yates. "Quantitative proteomic analysis of primary neurons reveals diverse changes in synaptic protein content in fmr1 knockout mice." Proceedings of the National Academy of Sciences 105, no. 40 (2008): 15281–86. http://dx.doi.org/10.1073/pnas.0804678105.

Pełny tekst źródła

Streszczenie:

Fragile X syndrome (FXS) is a common inherited form of mental retardation that is caused, in the vast majority of cases, by the transcriptional silencing of a single gene, fmr1. The encoded protein, FMRP, regulates mRNA translation in neuronal dendrites, and it is thought that changes in translation-dependent forms of synaptic plasticity lead to many symptoms of FXS. However, little is known about the potentially extensive changes in synaptic protein content that accompany loss of FMRP. Here, we describe the development of a high-throughput quantitative proteomic method to identify differences

Style APA, Harvard, Vancouver, ISO itp.

28

Hansen, Nicole, Anna Dischler, and Caroline Dias. "Beyond the Synapse: FMR1 and FMRP Molecular Mechanisms in the Nucleus." International Journal of Molecular Sciences 26, no. 1 (2024): 214. https://doi.org/10.3390/ijms26010214.

Pełny tekst źródła

Streszczenie:

FMR1 (Fragile X messenger ribonucleoprotein 1), located on the X-chromosome, encodes the multi-functional FMR1 protein (FMRP), critical to brain development and function. Trinucleotide CGG repeat expansions at this locus cause a range of neurological disorders, collectively referred to as Fragile X-related conditions. The most well-known of these is Fragile X syndrome, a neurodevelopmental disorder associated with syndromic facial features, autism, intellectual disabilities, and seizures. However, CGG expansions of different sizes also confer a risk of neuropsychiatric and neurodegenerative di

Style APA, Harvard, Vancouver, ISO itp.

29

Bardoni, Barbara, Laetitia Davidovic, Mounia Bensaid, and Edouard W. Khandjian. "The fragile X syndrome: exploring its molecular basis and seeking a treatment." Expert Reviews in Molecular Medicine 8, no. 8 (2006): 1–16. http://dx.doi.org/10.1017/s1462399406010751.

Pełny tekst źródła

Streszczenie:

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

Style APA, Harvard, Vancouver, ISO itp.

30

Myrick, Leila K., Pan-Yue Deng, Hideharu Hashimoto, et al. "Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures." Proceedings of the National Academy of Sciences 112, no. 4 (2015): 949–56. http://dx.doi.org/10.1073/pnas.1423094112.

Pełny tekst źródła

Streszczenie:

Fragile X syndrome (FXS) results in intellectual disability (ID) most often caused by silencing of the fragile X mental retardation 1 (FMR1) gene. The resulting absence of fragile X mental retardation protein 1 (FMRP) leads to both pre- and postsynaptic defects, yet whether the pre- and postsynaptic functions of FMRP are independent and have distinct roles in FXS neuropathology remain poorly understood. Here, we demonstrate an independent presynaptic function for FMRP through the study of an ID patient with an FMR1 missense mutation. This mutation, c.413G > A (R138Q), preserves FMRP’s canon

Style APA, Harvard, Vancouver, ISO itp.

31

Gruss, Michael, and Katharina Braun. "Alterations of Amino Acids and Monoamine Metabolism in Male Fmr1 Knockout Mice: A Putative Animal Model of the Human Fragile X Mental Retardation Syndrome." Neural Plasticity 8, no. 4 (2001): 285–98. http://dx.doi.org/10.1155/np.2001.285.

Pełny tekst źródła

Streszczenie:

The Fragile X syndrome, a common form of mental retardation in humans, is caused by silencing the fragile X mental retardation (FMR1) geneleading to the absence of the encoded fragile X mental retardation protein 1 (FMRP). We describe morphological and behavioral abnormalities for both affected humans and Fmr1 knockout mice, a putative animal model for the human Fragile X syndrome. The aim of the present study was to identify possible neurochemical abnormalities in Fmr1 knockout mice, with particular focus on neurotransmission. Significant region-specific differences: of basal neurotransmitter

Style APA, Harvard, Vancouver, ISO itp.

32

Mahishi, Lata, and Karen Usdin. "NF-Y, AP2, Nrf1 and Sp1 regulate the fragile X-related gene 2 (FXR2)." Biochemical Journal 400, no. 2 (2006): 327–35. http://dx.doi.org/10.1042/bj20060734.

Pełny tekst źródła

Streszczenie:

Fragile X syndrome, the most common heritable form of mental retardation, is caused by silencing of the FMR1 (fragile X mental retardation-1 gene). The protein product of this gene, FMRP (fragile X mental retardation protein), is thought to be involved in the translational regulation of mRNAs important for learning and memory. In mammals, there are two homologues of FMRP, namely FXR1P (fragile X-related protein 1) and FXR2P. Disruption of Fxr2 in mice produces learning and memory deficits, and Fmr1 and Fxr2 double-knockout mice have exaggerated impairments in certain neurobehavioral phenotypes

Style APA, Harvard, Vancouver, ISO itp.

33

Medina Gómez, Begoña, and Isabel García Alonso. "SÍNDROME X FRÁGIL: DETECCIÓN E INTERVENCIÓN EN EL FENOTIPO CONDUCTUAL." International Journal of Developmental and Educational Psychology. Revista INFAD de Psicología. 2, no. 1 (2016): 145. http://dx.doi.org/10.17060/ijodaep.2014.n1.v2.427.

Pełny tekst źródła

Streszczenie:

Abstract:FRAGILE X SYNDROME: DETECTION AND INTERVENTION IN THE BEHAVIOURAL PHENOTYPEFragile X syndrome (SXF) constitutes the first cause of hereditary intellectual disability. It is one alteration of the neurodevelopmental produced by a mutation in the FMR1 gene causing inadequate synthesis of the protein FMRP1. The absence of this protein would be responsible for the physical phenotype and behavioral that characterizes these people. This work intends to present the most relevant and significant characteristics that define the behavioral phenotype: hyperactivity and attention deficit, social a

Style APA, Harvard, Vancouver, ISO itp.

34

Curnow, Eliza, and Yuan Wang. "New Animal Models for Understanding FMRP Functions and FXS Pathology." Cells 11, no. 10 (2022): 1628. http://dx.doi.org/10.3390/cells11101628.

Pełny tekst źródła

Streszczenie:

Fragile X encompasses a range of genetic conditions, all of which result as a function of changes within the FMR1 gene and abnormal production and/or expression of the FMR1 gene products. Individuals with Fragile X syndrome (FXS), the most common heritable form of intellectual disability, have a full-mutation sequence (>200 CGG repeats) which brings about transcriptional silencing of FMR1 and loss of FMR protein (FMRP). Despite considerable progress in our understanding of FXS, safe, effective, and reliable treatments that either prevent or reduce the severity of the FXS phenotype have not

Style APA, Harvard, Vancouver, ISO itp.

35

Stefanovic, Snezana, Brett A. DeMarco, Ayana Underwood, Kathryn R. Williams, Gary J. Bassell, and Mihaela Rita Mihailescu. "Fragile X mental retardation protein interactions with a G quadruplex structure in the 3′-untranslated region of NR2B mRNA." Molecular BioSystems 11, no. 12 (2015): 3222–30. http://dx.doi.org/10.1039/c5mb00423c.

Pełny tekst źródła

Streszczenie:

Fragile X syndrome, the most common cause of inherited intellectual disability, is caused by a trinucleotide CGG expansion in the 5′-untranslated region of the FMR1 gene, which leads to the loss of expression of the fragile X mental retardation protein (FMRP).

Style APA, Harvard, Vancouver, ISO itp.

36

McCamphill, Patrick K., Laura J. Stoppel, Rebecca K. Senter та ін. "Selective inhibition of glycogen synthase kinase 3α corrects pathophysiology in a mouse model of fragile X syndrome". Science Translational Medicine 12, № 544 (2020): eaam8572. http://dx.doi.org/10.1126/scitranslmed.aam8572.

Pełny tekst źródła

Streszczenie:

Fragile X syndrome is caused by FMR1 gene silencing and loss of the encoded fragile X mental retardation protein (FMRP), which binds to mRNA and regulates translation. Studies in the Fmr1−/y mouse model of fragile X syndrome indicate that aberrant cerebral protein synthesis downstream of metabotropic glutamate receptor 5 (mGluR5) signaling contributes to disease pathogenesis, but clinical trials using mGluR5 inhibitors were not successful. Animal studies suggested that treatment with lithium might be an alternative approach. Targets of lithium include paralogs of glycogen synthase kinase 3 (GS

Style APA, Harvard, Vancouver, ISO itp.

37

Faradz, Sultana MH, and Tri Indah Winarni. "Focal areas of a high rate of fragile X in Indonesia: a long term follow up." Journal of Biomedicine and Translational Research 5, no. 2 (2019): 67–68. http://dx.doi.org/10.14710/jbtr.v5i2.6895.

Pełny tekst źródła

Streszczenie:

Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability (ID) and a leading cause of autism spectrum disorder (ASD). FXS is caused by an expansion of CGG repeats >200 in the 5′ untranslated region of the promotor region fragile X mental retardation 1 gene (FMR1), which is located on Xq27.3. The abnormal CGG expansion leads to methylation and transcriptional silencing of the FMR1 gene, resulting in a reduction or loss of fragile X mental retardation 1 protein (FMRP) and causes long, thin, and immature dendritic spines, which lead to deficits in cognitive functio

Style APA, Harvard, Vancouver, ISO itp.

38

Gray, Steven J., Jeannine Gerhardt, Walter Doerfler, Lawrence E. Small, and Ellen Fanning. "An Origin of DNA Replication in the Promoter Region of the Human Fragile X Mental Retardation (FMR1) Gene." Molecular and Cellular Biology 27, no. 2 (2006): 426–37. http://dx.doi.org/10.1128/mcb.01382-06.

Pełny tekst źródła

Streszczenie:

ABSTRACT Fragile X syndrome, the most common form of inherited mental retardation 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. Although the events that trigger local CGG expansion remain unknown, the stability of trinucleotide repeat tracts is affected by their position relative to an origin of DNA replication in model systems. Origins of DNA replication in the FMR1 locus have not yet been described. Here, we

Style APA, Harvard, Vancouver, ISO itp.

39

Aishworiya, Ramkumar, Mei-Hung Chi, Marwa Zafarullah, et al. "Intercorrelation of Molecular Biomarkers and Clinical Phenotype Measures in Fragile X Syndrome." Cells 12, no. 14 (2023): 1920. http://dx.doi.org/10.3390/cells12141920.

Pełny tekst źródła

Streszczenie:

This study contributes to a greater understanding of the utility of molecular biomarkers to identify clinical phenotypes of fragile X syndrome (FXS). Correlations of baseline clinical trial data (molecular measures—FMR1 mRNA, CYFIP1 mRNA, MMP9 and FMRP protein expression levels, nonverbal IQ, body mass index and weight, language level, NIH Toolbox, adaptive behavior rating, autism, and other mental health correlates) of 59 participants with FXS ages of 6–32 years are reported. FMR1 mRNA expression levels correlated positively with adaptive functioning levels, expressive language, and specific

Style APA, Harvard, Vancouver, ISO itp.

40

Nobile, Veronica, Cecilia Pucci, Pietro Chiurazzi, Giovanni Neri, and Elisabetta Tabolacci. "DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome." Biomolecules 11, no. 2 (2021): 296. http://dx.doi.org/10.3390/biom11020296.

Pełny tekst źródła

Streszczenie:

Among the inherited causes of intellectual disability and autism, Fragile X syndrome (FXS) is the most frequent form, for which there is currently no cure. In most FXS patients, the FMR1 gene is epigenetically inactivated following the expansion over 200 triplets of a CGG repeat (FM: full mutation). FMR1 encodes the Fragile X Mental Retardation Protein (FMRP), which binds several mRNAs, mainly in the brain. When the FM becomes methylated at 10–12 weeks of gestation, the FMR1 gene is transcriptionally silent. The molecular mechanisms involved in the epigenetic silencing are not fully elucidated

Style APA, Harvard, Vancouver, ISO itp.

41

Park, Esther, Anthony G. Lau, Kristin L. Arendt та Lu Chen. "FMRP Interacts with RARα in Synaptic Retinoic Acid Signaling and Homeostatic Synaptic Plasticity". International Journal of Molecular Sciences 22, № 12 (2021): 6579. http://dx.doi.org/10.3390/ijms22126579.

Pełny tekst źródła

Streszczenie:

The fragile X syndrome (FXS) is an X-chromosome-linked neurodevelopmental disorder with severe intellectual disability caused by inactivation of the fragile X mental retardation 1 (FMR1) gene and subsequent loss of the fragile X mental retardation protein (FMRP). Among the various types of abnormal synaptic function and synaptic plasticity phenotypes reported in FXS animal models, defective synaptic retinoic acid (RA) signaling and subsequent defective homeostatic plasticity have emerged as a major synaptic dysfunction. However, the mechanism underlying the defective synaptic RA signaling in t

Style APA, Harvard, Vancouver, ISO itp.

42

Yu, Jinbae, Youngsik Woo, Heesun Kim, Sihyeon An, Sang Ki Park, and Sung Key Jang. "FMRP Enhances the Translation of 4EBP2 mRNA during Neuronal Differentiation." International Journal of Molecular Sciences 24, no. 22 (2023): 16319. http://dx.doi.org/10.3390/ijms242216319.

Pełny tekst źródła

Streszczenie:

FMRP is a multifunctional protein encoded by the Fragile X Messenger Ribonucleoprotein 1 gene (FMR1). The inactivation of the FMR1 gene results in fragile X syndrome (FXS), a serious neurodevelopmental disorder. FMRP deficiency causes abnormal neurite outgrowth, which is likely to lead to abnormal learning and memory capabilities. However, the mechanism of FMRP in modulating neuronal development remains unknown. We found that FMRP enhances the translation of 4EBP2, a neuron-specific form of 4EBPs that inactivates eIF4E by inhibiting the interaction between eIF4E and eIF4G. Depletion of 4EBP2 r

Style APA, Harvard, Vancouver, ISO itp.

43

Siomi, Mikiko C., Kyoko Higashijima, Akira Ishizuka, and Haruhiko Siomi. "Casein Kinase II Phosphorylates the Fragile X Mental Retardation Protein and Modulates Its Biological Properties." Molecular and Cellular Biology 22, no. 24 (2002): 8438–47. http://dx.doi.org/10.1128/mcb.22.24.8438-8447.2002.

Pełny tekst źródła

Streszczenie:

ABSTRACT Fragile X syndrome is caused by loss of FMR1 protein expression. FMR1 binds RNA and associates with polysomes in the cytoplasm; thus, it has been proposed to function as a regulator of gene expression at the posttranscriptional level. Posttranslational modification of FMR1 had previously been suggested to regulate its activity, but no experimental support for this model has been reported to date. Here we report that FMR1 in Drosophila melanogaster (dFMR1) is phosphorylated in vivo and that the homomer formation and the RNA-binding activities of dFMR1 are modulated by phosphorylation i

Style APA, Harvard, Vancouver, ISO itp.

44

Tak, YeEun, Andrea Schneider, Ellery Santos, et al. "Unmethylated Mosaic Full Mutation Males without Fragile X Syndrome." Genes 15, no. 3 (2024): 331. http://dx.doi.org/10.3390/genes15030331.

Pełny tekst źródła

Streszczenie:

Fragile X syndrome (FXS) is the leading inherited cause of intellectual disability (ID) and single gene cause of autism. Although most patients with FXS and the full mutation (FM) have complete methylation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene, some have mosaicism in methylation and/or CGG repeat size, and few have completely unmethylated FM alleles. Those with a complete lack of methylation are rare, with little literature about the cognitive and behavioral phenotypes of these individuals. A review of past literature was conducted regarding individuals with unmethylated a

Style APA, Harvard, Vancouver, ISO itp.

45

KUMARI, Daman, Andrei GABRIELIAN, David WHEELER, and Karen USDIN. "The roles of Sp1, Sp3, USF1/USF2 and NRF-1 in the regulation and three-dimensional structure of the Fragile X mental retardation gene promoter." Biochemical Journal 386, no. 2 (2005): 297–303. http://dx.doi.org/10.1042/bj20041124.

Pełny tekst źródła

Streszczenie:

Expansion of a CGG·CCG-repeat tract in the 5′-untranslated region of the FMR1 (Fragile X mental retardation 1) gene causes its aberrant transcription. This produces symptoms ranging from premature ovarian failure and Fragile X associated tremor and ataxia syndrome to FMR syndrome, depending on the size of the expansion. The promoter from normal alleles shows four protein-binding regions in vivo. We had previously shown that in mouse brain extracts two of these sites are bound by USF1/USF2 (upstream stimulatory factors 1 and 2) heterodimers and NRF-1 (nuclear respiratory factor-1). We also show

Style APA, Harvard, Vancouver, ISO itp.

46

Suhl, Joshua A., Ravi S. Muddashetty, Bart R. Anderson, et al. "A 3′ untranslated region variant in FMR1 eliminates neuronal activity-dependent translation of FMRP by disrupting binding of the RNA-binding protein HuR." Proceedings of the National Academy of Sciences 112, no. 47 (2015): E6553—E6561. http://dx.doi.org/10.1073/pnas.1514260112.

Pełny tekst źródła

Streszczenie:

Fragile X syndrome is a common cause of intellectual disability and autism spectrum disorder. The gene underlying the disorder, fragile X mental retardation 1 (FMR1), is silenced in most cases by a CGG-repeat expansion mutation in the 5′ untranslated region (UTR). Recently, we identified a variant located in the 3′UTR of FMR1 enriched among developmentally delayed males with normal repeat lengths. A patient-derived cell line revealed reduced levels of endogenous fragile X mental retardation protein (FMRP), and a reporter containing a patient 3′UTR caused a decrease in expression. A control rep

Style APA, Harvard, Vancouver, ISO itp.

47

Ceman, Stephanie, Victoria Brown, and Stephen T. Warren. "Isolation of an FMRP-Associated Messenger Ribonucleoprotein Particle and Identification of Nucleolin and the Fragile X-Related Proteins as Components of the Complex." Molecular and Cellular Biology 19, no. 12 (1999): 7925–32. http://dx.doi.org/10.1128/mcb.19.12.7925.

Pełny tekst źródła

Streszczenie:

ABSTRACT The loss of FMR1 expression due to trinucleotide repeat expansion leads to fragile X syndrome, a cause of mental retardation. The encoded protein, FMRP, is a member of a gene family that also contains the fragile X-related proteins, FXR1P and FXR2P. FMRP has been shown to be a nucleocytoplasmic shuttling protein that selectively binds a subset of mRNAs, forms messenger ribonucleoprotein (mRNP) complexes, and associates with translating ribosomes. Here we describe a cell culture system from which we can isolate epitope-tagged FMRP along with mRNA, including its own message, and at leas

Style APA, Harvard, Vancouver, ISO itp.

48

Zhuang, Yuan, Haifeng C. Xu, Prashant V. Shinde, et al. "Fragile X mental retardation protein protects against tumour necrosis factor-mediated cell death and liver injury." Gut 69, no. 1 (2019): 133–45. http://dx.doi.org/10.1136/gutjnl-2019-318215.

Pełny tekst źródła

Streszczenie:

ObjectiveThe Fragile X mental retardation (FMR) syndrome is a frequently inherited intellectual disability caused by decreased or absent expression of the FMR protein (FMRP). Lack of FMRP is associated with neuronal degradation and cognitive dysfunction but its role outside the central nervous system is insufficiently studied. Here, we identify a role of FMRP in liver disease.DesignMice lacking Fmr1 gene expression were used to study the role of FMRP during tumour necrosis factor (TNF)-induced liver damage in disease model systems. Liver damage and mechanistic studies were performed using real

Style APA, Harvard, Vancouver, ISO itp.

49

Romano, Nicla, Bruna Di Giacomo, Veronica Nobile, et al. "Ribosomal RACK1 Regulates the Dendritic Arborization by Repressing FMRP Activity." International Journal of Molecular Sciences 23, no. 19 (2022): 11857. http://dx.doi.org/10.3390/ijms231911857.

Pełny tekst źródła

Streszczenie:

FMRP is an RNA-binding protein that represses the translation of specific mRNAs. In neurons, its depletion determines the exaggerated translation of mRNAs leading to dendritic and axonal aberrant development, two peculiar features of Fragile X syndrome patients. However, how FMRP binds to translational machinery to regulate the translation of its mRNA targets is not yet fully understood. Here, we show that FMRP localizes on translational machinery by interacting with the ribosomal binding protein, Receptor for Activated C Kinase 1 (RACK1). The binding of FMRP to RACK1 removes the translational

Style APA, Harvard, Vancouver, ISO itp.

50

Arsenault, Jason, Alexander W. M. Hooper, Shervin Gholizadeh, et al. "Interregulation between Fragile X Mental Retardation Protein and Methyl CpG Binding Protein 2 in the Mouse Posterior Cerebral Cortex." Human Molecular Genetics, October 21, 2020. http://dx.doi.org/10.1093/hmg/ddaa226.

Pełny tekst źródła

Streszczenie:

Abstract Several X-linked neurodevelopmental disorders including Rett Syndrome, induced by mutations in the MECP2 gene, and Fragile X Syndrome (FXS), caused by mutations in the FMR1 gene, share autism-related features. The mRNA coding for Methyl CpG binding protein 2 (MeCP2) has previously been identified as a substrate for the mRNA-binding protein Fragile X Mental Retardation Protein (FMRP), which is silenced in FXS. Here, we report a homeostatic relationship between these two key regulators of gene expression in mouse models of FXS (Fmr1 KO) and Rett syndrome (MeCP2 KO). We found that the le

Style APA, Harvard, Vancouver, ISO itp.

Oferujemy zniżki na wszystkie plany premium dla autorów, których prace zostały uwzględnione w tematycznych zestawieniach literatury. Skontaktuj się z nami, aby uzyskać unikalny kod promocyjny!