Abstract
No public abstract is available from the verified source records.
Contact and support
Need help, have a question, or want to contact the ResearchHub team?
© 2026 ResearchHub. Built for responsible scholarly connection.
Privacy-aware community infrastructureAna Sastre, Nuria E Campillo, Carmen Gil, Ana Martinez
Abstract
Authors
Institutions
No ROR-resolved institution is linked to this work yet.
Provenance
crossref
Confidence 100%
unpaywall
Confidence 95%
datacite
Confidence 0%
No local reference links have been materialized yet.
No local citing links have been materialized yet.
Fragile X syndrome: a review of associated medical problems
10.1542/peds.2013-4301 · 2014
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
10.1016/0092-8674(91)90397-h · 1991
New perspectives on the biology of fragile X syndrome
10.1016/j.gde.2012.02.002 · 2012
The pathophysiology of fragile X syndrome
10.1146/annurev.genom.8.080706.092249 · 2007
FMR1 and the fragile X syndrome: human genome epidemiology review
10.1097/00125817-200109000-00006 · 2001
Prevalence of carriers of premutation-size alleles of the FMRI gene — and implications for the population genetics of the fragile X syndrome
1995
Epidemiology of fragile X syndrome: a systematic review and meta-analysis
10.1002/ajmg.a.36511 · 2014
Translating molecular advances in fragile X syndrome into therapy: a review
10.4088/jcp.13r08714 · 2014
Fragile X mental retardation protein: past, present and future
10.2174/138920312801619420 · 2012
A point mutation in the FMR-1 gene associated with fragile X mental retardation
10.1038/ng0193-31 · 1993
Novel point mutation within intron 10 of FMR-1 gene causing fragile X syndrome
10.1002/(sici)1098-1004(1997)10:5<393::aid-humu10>3.0.co;2-v · 1997
Fragile X mental retardation syndrome: structure of the KH1-KH2 domains of fragile X mental retardation protein
10.1016/j.str.2007.06.022 · 2007
Characterization of FMR1 proteins isolated from different tissues
10.1093/hmg/4.5.895 · 1995
FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association
10.1016/s1097-2765(00)80012-x · 1997
Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes
10.1101/gad.1276805 · 2005
Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males
10.1002/ajmg.a.33626 · 2010
Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome
1993
Phenotypic variation and FMRP levels in fragile X
10.1002/mrdd.20006 · 2004
Fragile X syndrome and X-linked intellectual disability
2013
The fragile X syndrome-autism comorbidity: what do we really know?
10.3389/fgene.2014.00355 · 2014
Autism and fragile X syndrome
10.1055/s-0034-1386764 · 2014
Origins of epilepsy in fragile X syndrome
10.1111/j.1535-7511.2009.01309.x · 2009
The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
10.1038/ng0893-335 · 1993
Structural studies of the tandem Tudor domains of fragile X mental retardation related proteins FXR1 and FXR2
10.1371/journal.pone.0013559 · 2010
Structure-function studies of FMRP RGG peptide recognition of an RNA duplex–quadruplex junction
10.1038/nsmb.2064 · 2011
The structure of the N-terminal domain of the fragile X mental retardation protein: a platform for protein–protein interaction
10.1016/j.str.2005.09.018 · 2006
The unstable repeats — three evolving faces of neurological disease
10.1016/j.neuron.2013.02.022 · 2013
Fragile X syndrome: from protein function to therapy
10.1002/ajmg.a.36241 · 2013
Structure and function of KH domains
10.1111/j.1742-4658.2008.06411.x · 2008
The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP
10.1016/j.cell.2008.07.031 · 2008
Fragile X syndrome: mechanistic insights and therapeutic avenues regarding the role of potassium channels
10.1016/j.conb.2012.03.010 · 2012
FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism
10.1016/j.cell.2011.06.013 · 2011
Fragile X mental retardation protein interactions with the microtubule associated protein 1B RNA
10.1261/rna.1100708 · 2008
Evidence for a fragile X mental retardation protein-mediated translational switch in metabotropic glutamate receptor-triggered Arc translation and long-term depression
10.1523/jneurosci.4650-11.2012 · 2012
Taking STEPs forward to understand fragile X syndrome
10.1007/978-3-642-21649-7_12 · 2012
Genetic manipulation of STEP reverses behavioral abnormalities in a fragile X syndrome mouse model
10.1111/j.1601-183x.2012.00781.x · 2012
Fragile X mental retardation protein is required for synapse elimination by the activity-dependent transcription factor MEF2
10.1016/j.neuron.2010.03.017 · 2010
Roles of fragile X mental retardation protein in dopaminergic stimulation-induced synapse-associated protein synthesis and subsequent alpha-amino-3-hydroxyl-5-methyl-4-isoxazole-4-propionate (AMPA) receptor internalization
10.1074/jbc.m110.116293 · 2010
FMRP regulates neurotransmitter release and synaptic information transmission by modulating action potential duration via BK channels
10.1016/j.neuron.2012.12.018 · 2013
Advances in the treatment of fragile X syndrome
10.1542/peds.2008-0317 · 2009
Peroxisome proliferator activated receptor gamma (PPARgamma) as a therapeutic target for improvement of cognitive performance in Fragile-X
10.1016/j.mehy.2013.12.012 · doi-reference
Selective blockade of 2-arachidonoylglycerol hydrolysis produces cannabinoid behavioral effects
10.1038/nchembio.129 · doi-reference
Uncoupling of the endocannabinoid signalling complex in a mouse model of fragile X syndrome
10.1038/ncomms2045 · doi-reference
Enhanced endocannabinoid signaling elevates neuronal excitability in fragile X syndrome
10.1523/jneurosci.0795-10.2010 · doi-reference
Fmr1 deletion enhances and ultimately desensitizes CB(1) signaling in autaptic hippocampal neurons
10.1016/j.nbd.2013.04.002 · doi-reference
Abnormal mGlu 5 receptor/endocannabinoid coupling in mice lacking FMRP and BC1 RNA
10.1038/npp.2010.19 · doi-reference
Protective effects of melatonin against oxidative stress in Fmr1 knockout mice: a therapeutic research model for the fragile X syndrome
10.1111/j.1600-079x.2008.00653.x · doi-reference
Alpha-tocopherol protects against oxidative stress in the fragile X knockout mouse: an experimental therapeutic approach for the Fmr1 deficiency
10.1038/npp.2008.152 · doi-reference
A novel function for fragile X mental retardation protein in translational activation
10.1371/journal.pbio.1000016 · doi-reference
Enhanced markers of oxidative stress, altered antioxidants and NADPH-oxidase activation in brains from Fragile X mental retardation 1-deficient mice, a pathological model for Fragile X syndrome
10.1111/j.1460-9568.2007.05939.x · doi-reference
Multiple Gq-coupled receptors converge on a common protein synthesis-dependent long-term depression that is affected in fragile X syndrome mental retardation
10.1523/jneurosci.2266-07.2007 · doi-reference
Genetic reduction of muscarinic M4 receptor modulates analgesic response and acoustic startle response in a mouse model of fragile X syndrome (FXS)
10.1016/j.bbr.2011.11.018 · doi-reference
The modulation of fragile X behaviors by the muscarinic M4 antagonist, tropicamide
10.1037/a0025202 · doi-reference
Modulation of behavioral phenotypes by a muscarinic M1 antagonist in a mouse model of fragile X syndrome
10.1007/s00213-011-2276-6 · doi-reference
Involvement of cholinergic and GABAergic systems in the fragile X knockout mice
10.1016/s0306-4522(03)00103-9 · doi-reference
Side effects of minocycline treatment in patients with fragile X syndrome and exploration of outcome measures
10.1352/1944-7558-115.5.433 · doi-reference
Open-label add-on treatment trial of minocycline in fragile X syndrome
10.1186/1471-2377-10-91 · doi-reference
Matrix metalloproteinases and minocycline: therapeutic avenues for fragile X syndrome
10.1155/2012/124548 · doi-reference
Tassone F: High MMP-9 activity levels in fragile X syndrome are lowered by minocycline
10.1002/ajmg.a.36023 · doi-reference
Important role of matrix metalloproteinase 9 in epileptogenesis
10.1083/jcb.200708213 · doi-reference
Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model
10.1136/jmg.2008.061796 · doi-reference
Influence of matrix metalloproteinase MMP-9 on dendritic spine morphology
10.1242/jcs.090852 · doi-reference
Extracellular proteolysis by matrix metalloproteinase-9 drives dendritic spine enlargement and long-term potentiation coordinately
10.1073/pnas.0807248105 · doi-reference
Lipid rafts: a signaling platform linking cholesterol metabolism to synaptic deficits in autism spectrum disorders
10.3389/fnbeh.2014.00104 · doi-reference
Effect of lovastatin on behavior in children and adults with fragile X syndrome: an open-label study
10.1002/ajmg.a.36750 · doi-reference
Lovastatin corrects excess protein synthesis and prevents epileptogenesis in a mouse model of fragile X syndrome
10.1016/j.neuron.2012.01.034 · doi-reference
Fragile X syndrome therapeutics: translation, meet translational medicine
10.1016/j.neuron.2013.01.009 · doi-reference
Lovastatin inhibits the extracellular-signal-regulated kinase pathway in immortalized rat brain neuroblasts
10.1042/bj20060731 · doi-reference
Hypersensitivity to mGluR5 and ERK1/2 leads to excessive protein synthesis in the hippocampus of a mouse model of fragile X syndrome
10.1523/jneurosci.3888-10.2010 · doi-reference
Fragile X mental retardation protein regulates protein expression and mRNA translation of the potassium channel Kv4.2
10.1523/jneurosci.6661-10.2011 · doi-reference
Regulation of the timing of MNTB neurons by short-term and long-term modulation of potassium channels
10.1016/j.heares.2004.11.023 · doi-reference
Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function
10.1016/s0092-8674(01)00566-9 · doi-reference
Fragile X mental retardation protein controls gating of the sodium-activated potassium channel Slack
10.1038/nn.2563 · doi-reference
Potassium channel modulation and auditory processing
10.1016/j.heares.2011.03.004 · doi-reference
Fragile X mental retardation protein is required for rapid experience-dependent regulation of the potassium channel Kv3.1b
10.1523/jneurosci.1125-10.2010 · doi-reference
Bidirectional regulation of dendritic voltage-gated potassium channels by the fragile X mental retardation protein
10.1016/j.neuron.2011.09.033 · doi-reference
The guanine-exchange factor Ric8a binds the calcium sensor NCS-1 to regulate synapse number and probability of release
10.1242/jcs.152603 · doi-reference
Mutations in the calcium-related gene IL1RAPL1 are associated with autism
10.1093/hmg/ddn300 · doi-reference
A postsynaptic signaling pathway that may account for the cognitive defect due to IL1RAPL1 mutation
10.1016/j.cub.2009.12.030 · doi-reference
Frequenin/NCS-1 and the Ca2+-channel alpha1-subunit co-regulate synaptic transmission and nerve-terminal growth
10.1242/jcs.055095 · doi-reference