Keywords: AS; Angelman syndrome; BMI; (â)-bicuculline methiodide; DHPG; (RS)-3,5-dihydroxyphenylglycine; EEG; electroencephalogram; FXS; fragile X syndrome; LTD; long-term depression; mGluR; metabotropic glutamate receptor; MPEP; 2-Methyl-6-(phenylethynyl)pyridin
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Keywords: Synapse; Proteomics; Psychiatric disorders; Neurodevelopmental disorders; Meta-analysis; ASD; Autism spectrum disorders; FXS; Fragile-X Syndrome; LC; liquid chromatography; MS; mass spectrometry; PPI; protein-protein interaction; PSD; postsynaptic density
Keywords: ALS; amyotrophic lateral sclerosis; ASD; autism spectrum disorder; BD; bipolar disorder; CAS; CRISPR-associated proteins; CRISPR; clustered regularly interspaced short palindromic repeats; ESC; embryonic stem cell; FXS; fragile X syndrome; FMR1; fragile X
Keywords: Actin dynamics; Rho GTPases; dendritic spines; postsynapse; Abi-1; Abelson interacting protein 1; Abp1; actin binding protein 1; ACTN4; α-actinin-4; ADF; actin-depolymerizing factor; ADHD; attention deficit/hyperactivity disorder; ADNP; activity-dependen
Keywords: Aggression; Brain injuries; Psychometrics; Rehabilitation; CFI; comparative fit index; FXS; frequency times severity; NFI; Neurobehavioral Functioning Inventory; NPI; Neuropsychiatric Inventory; PCA; principal component analysis; RMSEA; root mean square e
Keywords: DSB; DNA double-strand break; RNAP; RNA polymerase; FXS; fragile X syndrome; FXTAS; fragile X-associated tremor/ataxia syndrome; ssDNA; single-stranded DNA; G-Q; G-quadruplex; KD; knockdown; TDRD3; tudor domain-containing protein 3; FA; Fanconi anemia; AL
Keywords: MMR; mismatch repair; MSH; mutS homolog; MLH; mutL homolog; BER; base excision repair; NER; nucleotide excision repair; TNR; trinucleotide repeat; DM1; myotonic dystrophy type 1; HD; huntington's disease; FRDA; Friedreich's ataxia; FXD; fragile X dise
Keywords: ASDs; Autism spectrum disorders; CNV; copy number variant; eIPSC; evoked IPSC; FMRP; fragile X mental retardation protein; FXS; fragile X syndrome; LOH; loss of heterozygosity; LTD; long-term depression; LTP; long-term potentiation; mEPSCs; miniature exci
Keywords: Dendritic spine; Synaptic plasticity; Neurodegenerative diseases; Psychiatric disorders; Glutamate receptor; Calcium signaling; ADHD; attention deficit hypersensitive disorders; FXS; Fragile X-syndrome; CNS; central nervous system; GABA; gamma amino butyr
Keywords: BAC; Bacterial Artificial Chromosomes; BLBP; brain lipid-binding protein; CLIP; crosslinking-IP; coup-TF; chicken ovalbumin upstream promoter transcription factor; CP; cortical plate; CPNs; callosal projection neurons; CSMNs; corticospinal motor neurons;
Prolonged Time Lag to Final Diagnosis of Fragile X Syndrome
Keywords: global developmental delay; genetics; FMR1; autism; ASD; Autism spectrum disorder; FXS; Fragile X syndrome;
Acamprosate rescues neuronal defects in the Drosophila model of Fragile X Syndrome
Keywords: FXS; Autism; Neurobiology; Neuromuscular junction; NMJ; Larval locomotion; dFMR1; dFMRP; CPB53E; Bruchpilot; Bouton; Synapse; Drug dosage;
Unraveling unusual X-chromosome patterns during fragile-X syndrome genetic testing
Keywords: FXS; Fragile X syndrome; FM; full mutation; FXTAS; fragile X-associated tremor and ataxia; ID; intellectual disability; KS; Klinefelter syndrome; PM; premutation; POF/POI; premature ovarian failure/primary ovarian insufficiency; TS; Turner syndrome; UTR;
Dysregulation and restoration of homeostatic network plasticity in fragile X syndrome mice
Keywords: Fmr1; FXS; p53; Mdm2; Neural network; Plasticity;
Abnormal Sleep Architecture and Hippocampal Circuit Dysfunction in a Mouse Model of Fragile X Syndrome
Keywords: BK; Large conductance potassium channel; CA1-PCs; CA1 pyramidal cells; CA3-PCs; CA3 pyramidal cells; DG; Dentate gyrus; EC2; Layer 2 of entorhinal cortex; EC3; Layer 3 of entorhinal cortex; EC5; Layer 5 of entorhinal cortex; Fmr1-KO or KO; Fmr1 knockout;
PURA, the gene encoding Pur-alpha, member of an ancient nucleic acid-binding protein family with mammalian neurological functions
Keywords: Pura (Pur-alpha); Purb; Pur-beta; Purg; Pur-gamma-A and Pur-gamma-B; AIDS; Myelodysplastic syndrome; Acute myelogenous leukemia; AML; Progressive multifocal leukoencephalopathy; PML; Polyomavirus JC; JCV; Fragile X syndrome; FXS; FMR1; Amyotrophic lateral
Loss of Sodium-Activated Potassium Channel Slack and FMRP Differentially Affect Social Behavior in Mice
Keywords: ASD; autism spectrum disorder; FMRP; Fragile-X-Mental-Retardation-Protein; FXS; Fragile-X-Syndrome; KO; knockout; MNTB; molecular nucleus of the trapezoid body; Slo2.2; sodium-activated potassium channel Slack; WT; wild type; slack; Slo2.2; FMRP; Fragile-
Rescue of Fmr1KO phenotypes with mGluR5 inhibitors: MRZ-8456 versus AFQ-056
Keywords: mGluR5; Fmr1; MRZ-8456; AFQ-056; MPEP; Amyloid-beta precursor protein; Aβ; amyloid-beta; ABC-C; Aberrant Behavior Checklist-Community Edition; AGS; audiogenic-induced seizures; APP; amyloid-beta protein precursor; CNS; central nervous system; CTEP; 2-chl
Research reportSpectral and temporal properties of calls reveal deficits in ultrasonic vocalizations of adult Fmr1 knockout mice
Keywords: Fragile X syndrome; FXS; Ultrasonic vocalizations; USV; Communication deficits; Scent marking;
Drug induces depression-like phenotypes and alters gene expression profiles in Drosophila
Keywords: 5-HT; serotonin; BP; biological process; CC; cellular component; Con; control flies; CPZ; flies fed with 2000Â mg/L of Chlorpromazine for 48Â h; DEGs; differentially expressed genes; dscDNA; double-strand cDNA; FXS; Fragile X syndrome; GO; Gene ontology;
ReviewSenataxin: Genome Guardian at the Interface of Transcription and Neurodegeneration
Keywords: AD; Alzheimer's disease; SOD1; superoxide dismutase 1; ALS; amyotrophic lateral sclerosis; ALS-FTD; ALS with frontotemporal lobar degeneration; FRDA; Friedreich ataxia; FXS; fragile X syndrome; SETX; senataxin; AOA2; ataxia with oculomotor apraxia type 2;
Review articleChallenges in developing drugs for pediatric CNS disorders: A focus on psychopharmacology
Keywords: ADHD; attention deficit hyperactivity disorder; ASD; autism spectrum disorder; OCD; obsessive compulsive disorder; NAC; N-acetylcysteine; CNS; central nervous system; FXS; Fragile X Syndrome; O3FA; omega-3 fatty acids; MDD; major depressive disorder; mGlu
Molecular neurobiology of mTOR
Keywords: 4E-BPs; 4E-binding proteins; Atg13; autophagy-related protein 13; BDNF; brain-derived neurotrophic factor; CGG; trinucleotide; EGF; epidermal growth factor; FXS; Fragile X syndrome; Hif1α; hypoxia-inducible factor 1-α; LTD; long-term depression; LTP; lo
The long non-coding RNA FMR4 promotes proliferation of human neural precursor cells and epigenetic regulation of gene expression in trans
Keywords: FXS; Fragile X syndrome; FXPOI; Fragile X-related primary ovarian insufficiency; FXTAS; Fragile X-associated tremor/ataxia syndrome; FMRP; Fragile X mental retardation protein; ncRNAs; Non-coding RNAs; mRNA; Messenger RNA; lncRNAs; Long non-coding RNAs; A
Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing
Keywords: Carrier screening; prenatal screening; autosomal recessive disorder; autosomal dominant disorder; X-linked disorder; thalassemia; hemoglobinopathy; cystic fibrosis; Duchenne/Becker muscular dystrophy; Fragile X; spinal muscular atrophy; Tay-Sachs disease;
Opinion commune de la SOGC et du CCGM sur le dépistage génétique en contexte de procréation : Mise à jour à l'intention de l'ensemble des prestataires canadiens de soins de santé maternelle et de services en procréation, à l'ère des tests offerts dire
Keywords: Carrier screening; prenatal screening; autosomal recessive disorder; autosomal dominant disorder; X-linked disorder; thalassemia; hemoglobinopathy; cystic fibrosis; Duchenne/Becker muscular dystrophy; Fragile X; spinal muscular atrophy; Tay-Sachs disease;
Hippocampal dysfunction and cognitive impairment in Fragile-X Syndrome
Keywords: AMPAR; α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor; ASD; autism spectrum disorder; BrdU; 5-bromo-2â²-deoxyuridine; CA; cornu ammonis; CaMKII; calcium/calmodulin-dependent protein kinase II; CGG; cytosine-guanine-guanine; DG; dentate gy
DXS998-DXS548-FRAXAC1 represents a novel informative haplotype at the FMR1 locus in the Iranian population
Keywords: LD; Linkage disequilibrium; FXS; Fragile X syndrome; STR; Short tandem repeat; Polymorphic markers; Linkage analysis; Haplotype frequency; Iranian population;
Brain acetylcholine and choline concentrations and dynamics in a murine model of the Fragile X syndrome: Age, sex and region-specific changes
Keywords: ACh; acetylcholine; ANCOVA; analysis of covariance; D0ACh; endogenous ACh; D0Ch; endogenous free choline; FXS; fragile X syndrome; KO; knock-out; WT; wild type; acetylcholine turnover; mice; cholinergic function; GCMS; fmr1-KO mice;
Abnormal neuronal morphology and neurochemistry in the auditory brainstem of Fmr1 knockout rats
Keywords: ABR; auditory brainstem response; CI; confidence interval; CR; Calretinin; Fmr1; Fragile X mental retardation 1 gene; FMRP; Fragile X mental retardation protein; FXS; Fragile X syndrome; GABA; gamma-aminobutyric acid; GAD; glutamic acid decarboxylase; GBC
Climbing the Branches of a Family Tree: Diagnosis of Fragile X Syndrome
Keywords: FMR1; Fragile X Mental Retardation-1; FXPOI; Fragile X-associated primary ovarian insufficiency; FXS; Fragile X syndrome; FXTAS; Fragile X-associated tremor ataxia syndrome;
Peroxisome proliferator activated receptor gamma (PPARγ) as a therapeutic target for improvement of cognitive performance in Fragile-X
Keywords: AMPAR; α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor; CNS; central nervous system; ECM; extra cellular matrix; FMR1 gene; Fragile X mental retardation 1 gene; FMRP; Fragile-X mental retardation protein; FXS; Fragile X syndrome; GLUT-3; gl
GABAAergic stimulation modulates intracellular protein arginine methylation
Keywords: Protein arginine methylation; GABAA receptor; Fragile X syndrome; Fmr1 knockout mice; PRMT; protein arginine methyltransferase; GABAγ; -amino butyric acid; SAH; S-adenosyl-homocysteine; KO; knock-out; FXS; fragile X syndrome; WT; wild-type; RA; retin
Exploring inhibitory deficits in female premutation carriers of fragile X syndrome: Through eye movements
Keywords: Saccade; Eye tracking; Premutation carrier; Fragile X syndrome; FXS; FMR1; Response inhibition
Developing zebrafish models of autism spectrum disorder (ASD)
Keywords: ADHD; attention deficit hyperactivity disorder; ASD; autism spectrum disorder; AVP; arginine vasopressin; DSM-5; Dianostic and Statistical Manual of mental disorders, 5th edition; FXS; fragile X syndrome; GABA; gamma-aminobutyric acid; MDMA; 3,4-methylene
Anxiety, hyperactivity and stereotypy in a zebrafish model of fragile X syndrome and autism spectrum disorder
Keywords: ASD; autism spectrum disorder; fmr1; fragile X mental retardation; fps; frames per second; FXS; fragile X syndrome; IACUC; institutional animal care and use committee; KO; knockout; LTD; long-term depression; LTP; long-term potentiation; PCR; polymerase c
Distribution of fragile X mental retardation protein in the human auditory brainstem
Keywords: AbN; abducens nucleus; cVCN; caudal ventral cochlear nucleus; DCN; dorsal cochlear nucleus; FMR1/Fmr1; fragile X mental retardation 1 gene; Fmr1 KO; Fmr1 knockouts; FMRP; fragile X mental retardation protein; FMRP+; FMRP positive; FN; facial nucleus; FXS;
Development of allosteric modulators of GPCRs for treatment of CNS disorders
Keywords: 5MPEP; 5-methyl-6-(phenylethynyl)-pyridine; 6-OHDA; 6-hydroxydopamine; 7TMR; seven transmembrane receptor; 77-LH-28-1; 1-[3-(4-butyl-1-piperidinyl)propyl]-3,4-dihydro-2(1H)-quinolinone; AC-42; 4-n-butyl-1-[4-(2-methylphenyl)-4-oxo-1-butyl]-piperidine; ACh
GABAergic circuit dysfunction in the Drosophila Fragile X syndrome model
Keywords: 2iL; 2nd instar larval; AEL; after egg lay; ANOVA; analysis of variance; APL; anterior paired lateral; BSA; bovine serum albumin; ChAT; choline acetyltransferase; CSÂ +; conditioned stimulus; CSÂ â; control stimulus; dBrainbow; Drosophila Brainbow; dfmr
Contrast, motion, perceptual integration, and neurocognition in schizophrenia: The role of fragile-X related mechanisms
Keywords: ANOVA; analysis of variance; FMRP; fragile X mental retardation protein; FXS; fragile x syndrome; GABA; gamma-aminobutyric acid; HSD; honestly significant difference; M; magnocellular; P; parvocellular; PANSS; Positive and Negative Syndrome Scale; RBANS;
Research ReportAltered auditory processing in a mouse model of fragile X syndrome
Keywords: A1; primary auditory cortex; AAF; anterior auditory field; AP; all pass; BP; band pass; CF; characteristic frequency; DSI; direction selectivity index; FM; frequency modulated; FMRP; fragile X mental retardation protein; FP; fast pass; FXS; fragile X synd
Neurobehavioural evidence for the involvement of the FMR1 gene in female carriers of fragile X syndrome
Keywords: FXS; fragile X syndrome; PM-carrier; premutation carrier; FX-premutation; fragile X premutation; FMRP; fragile X mental retardation protein; mRNA; messenger RNA; FXS [29]; Premutation [188]; Female [114]; Neurobehavioural [6]; Neuromotor [44]; Executive f
Hyper-reactivity in fragile X syndrome females: Generalised or specific to socially-salient stimuli? A skin conductance study
Keywords: Fragile X syndrome; FXS; Skin conductance; Electrodermal response; Social salience; Hyperarousal; Anxiety
Dendritic protein synthesis in the normal and diseased brain
Keywords: 4E-BPs; eIF4E binding proteins; ALS; amyotrophic lateral sclerosis; BDNF; brain-derived neurotrophic factor; CaMKII; calcium/calmodulin-dependent kinase II; CPE; cytoplasmic polyadenylation element; CPEB; cytoplasmic polyadenylation element binding protei
Lithium reverses increased rates of cerebral protein synthesis in a mouse model of fragile X syndrome
Keywords: FXS; fragile X syndrome; FMRP; fragile X mental retardation protein; rCPS; regional rate of cerebral protein synthesis; WT; wild type; KO; knock out; Akt; protein kinase B; mTOR; mammalian target of rapamycin; PI3K; phosphatidylinositol 3-kinase; ERK; ext
Metabotropic glutamate receptor-dependent long-term depression is impaired due to elevated ERK signaling in the ÎRG mouse model of tuberous sclerosis complex
Keywords: 4E-BP; eIF4E binding protein; ACSF; artificial cerebrospinal fluid; CMV; cytomegalovirus; FXS; fragile X syndrome; GAP; GTPase-activating protein; GDP; guanosine diphosphate; GTP; guanosine triphosphate; mTORC1; mammalian target of rapamycin complex 1; Rh
Research ReportFragile X Protein is required for inhibition of insulin signaling and regulates glial-dependent neuroblast reactivation in the developing brain
Keywords: FXS; Fragile X syndrome; FMRP; Fragile X Protein; ALH; After larval hatching; Fragile X Protein; Neural stem cell; Glia; Exit from quiescence; Proliferation; Insulin signaling;
Neurodegeneration the RNA way
Keywords: AD; Alzheimer's disease; ALS; amyotrophic lateral sclerosis; APP; amyloid precursor protein; Aβ42; amyloid β - 42 amino acids; CUGBP1; CUG binding protein 1; DM1; myotonic dystrophy type 1; DM2; myotonic dystrophy type 2; FTD; frontotemporal dementia;
Cognitive, Behavioral, and Systems NeuroscienceResearch PaperFragile X protein expression is linked to visual functions in healthy male volunteers
Keywords: fragile X syndrome; vision; magnocellular; dorsal stream; motion; ANOVA; analysis of variance; DAB; 3,3â²-diaminobenzidine tetrahydrochloride; FMRP; Fragile X protein; FXS; Fragile X syndrome; M; magnocellular; P; parvocellular;
Molecular actions and therapeutic potential of lithium in preclinical and clinical studies of CNS disorders
Keywords: Apoptosis; Brain-derived neurotrophic factor (BDNF); Glycogen synthase kinase 3 (GSK-3); Lithium; Neurodegenerative diseases; Neuroprotection; 3-NP; 3-nitropropionic acid; Aβ; β-amyloid; AD; Alzheimer's disease; ALS; amyotrophic lateral sclerosis; AP-1;