keyword
MENU ▼
Read by QxMD icon Read
search

FMR1

keyword
https://www.readbyqxmd.com/read/28444183/calcium-dysregulation-and-cdk5-atm-pathway-involved-in-a-mouse-model-of-fragile-x-associated-tremor-ataxia-syndrome
#1
Gaëlle Robin, José R López, Glenda M Espinal, Susan Hulsizer, Paul J Hagerman, Isaac N Pessah
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurological disorder that affects premutation carriers with 55-200 CGG-expansion repeats (preCGG) in FMR1, presenting with early alterations in neuronal network formation and function that precede neurodegeneration. Whether intranuclear inclusions containing DNA damage response (DDR) proteins, are causally linked to abnormal synaptic function, neuronal growth and survival are unknown. In a mouse that harbors a premutation CGG expansion (preCGG), cortical and hippocampal FMRP expression is moderately reduced from birth through adulthood, with greater FMRP reductions in the soma than in the neurite, despite several-fold elevation of Fmr1 mRNA levels...
April 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28442243/abnormal-neural-precursor-cell-regulation-in-the-early-postnatal-fragile-x-mouse-hippocampus
#2
Mary Sourial, Laurie C Doering
The regulation of neural precursor cells (NPCs) is indispensable for a properly functioning brain. Abnormalities in NPC proliferation, differentiation, survival, or integration have been linked to various neurological diseases including Fragile X syndrome. Yet, no studies have examined NPCs from the early postnatal Fragile X mouse hippocampus despite the importance of this developmental time point, which marks the highest expression level of FMRP, the protein missing in Fragile X, in the rodent hippocampus and is when hippocampal NPCs have migrated to the dentate gyrus (DG) to give rise to lifelong neurogenesis...
April 22, 2017: Brain Research
https://www.readbyqxmd.com/read/28420439/fragile-x-syndrome-a-review-of-clinical-and-molecular-diagnoses
#3
REVIEW
Claudia Ciaccio, Laura Fontana, Donatella Milani, Silvia Tabano, Monica Miozzo, Susanna Esposito
BACKGROUND: Fragile X Syndrome (FXS) is the second cause of intellectual disability after Down syndrome and the most prevalent cause of intellectual disability in males, affecting 1:5000-7000 men and 1:4000-6000 women. It is caused by an alteration of the FMR1 gene, which maps at the Xq27.3 band: more than 99% of individuals have a CGG expansion (>200 triplets) in the 5' UTR of the gene, and FMR1 mutations and duplication/deletion are responsible for the remaining (<1%) molecular diagnoses of FXS...
April 19, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28407408/fmr1-genotype-interacts-with-parenting-stress-to-shape-health-and-functional-abilities-in-older-age
#4
Marsha Mailick, Jinkuk Hong, Jan Greenberg, Leann Smith Dawalt, Mei Wang Baker, Paul J Rathouz
This study investigated the association of genotype (CGG repeats in FMR1) and the health and well-being of 5,628 aging adults (mean age = 71) in a population-based study. Two groups were contrasted: aging parents who had adult children with developmental or mental health disabilities (n = 785; the high-stress parenting group) and aging parents of healthy children who did not have disabilities (n = 4843; the low-stress parenting group). There were significant curvilinear interaction effects between parenting stress group and CGG repeats for body mass index and indicators of health and functional limitations, and the results were suggestive of interactions for limitations in cognitive functioning...
April 13, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28391068/abnormal-trajectories-in-cerebellum-and-brainstem-volumes-in-carriers-of-the-fragile-x-premutation
#5
Jun Yi Wang, David Hessl, Randi J Hagerman, Tony J Simon, Flora Tassone, Emilio Ferrer, Susan M Rivera
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder typically affecting male premutation carriers with 55-200 CGG trinucleotide repeat expansions in the FMR1 gene after age 50. The aim of this study was to examine whether cerebellar and brainstem changes emerge during development or aging in late life. We retrospectively analyzed magnetic resonance imaging scans from 322 males (age 8-81 years). Volume changes in the cerebellum and brainstem were contrasted with those in the ventricles and whole brain...
March 18, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28370141/increased-transient-na-conductance-and-action-potential-output-in-layer-2-3-prefrontal-cortex-neurons-of-the-fmr1-y-mouse
#6
Brandy N Routh, Rahul K Rathour, Michael E Baumgardner, Brian E Kalmbach, Daniel Johnston, Darrin H Brager
Fragile X syndrome is the most common form of inherited mental impairment and autism. The prefrontal cortex is responsible for higher order cognitive processing, and prefrontal dysfunction is believed to underlie many of the cognitive and behaviour phenotypes associated with Fragile X syndrome. We recently demonstrated that somatic and dendritic excitability of layer 5 pyramidal neurons in the prefrontal cortex of the fmr1-/y mouse is significantly altered due to changes in several voltage-gated ion channels...
March 31, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28369393/selective-rescue-of-heightened-anxiety-but-not-gait-ataxia-in-a-premutation-90cgg-mouse-model-of-fragile-x-associated-tremor-ataxia-syndrome
#7
Hoanna Castro, Emre Kul, Ronald A M Buijsen, Lies-Anne W F M Severijnen, Rob Willemsen, Renate K Hukema, Oliver Stork, Mónica Santos
A CGG-repeat expansion in the premutation range in the Fragile X mental retardation 1 gene (FMR1) has been identified as the genetic cause of Fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset neurodegenerative disorder that manifests with action tremor, gait ataxia and cognitive impairments. In this study we used a bigenic mouse model, in which expression of a 90CGG premutation tract is activated in neural cells upon doxycycline (DOX) administration - P90CGG mouse model. We here demonstrate the behavioural manifestation of clinically relevant features of FXTAS patients and premutation carrier individuals in this inducible mouse model...
March 22, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28352664/intranasal-sirna-administration-reveals-igf2-deficiency-contributes-to-impaired-cognition-in-fragile-x-syndrome-mice
#8
Marta Pardo, Yuyan Cheng, Dmitry Velmeshev, Marco Magistri, Hagit Eldar-Finkelman, Ana Martinez, Mohammad A Faghihi, Richard S Jope, Eleonore Beurel
Molecular mechanisms underlying learning and memory remain imprecisely understood, and restorative interventions are lacking. We report that intranasal administration of siRNAs can be used to identify targets important in cognitive processes and to improve genetically impaired learning and memory. In mice modeling the intellectual deficiency of Fragile X syndrome, intranasally administered siRNA targeting glycogen synthase kinase-3β (GSK3β), histone deacetylase-1 (HDAC1), HDAC2, or HDAC3 diminished cognitive impairments...
March 23, 2017: JCI Insight
https://www.readbyqxmd.com/read/28329674/%C3%AE-arrestin2-couples-metabotropic-glutamate-receptor-5-to-neuronal-protein-synthesis-and-is-a-potential-target-to-treat-fragile-x
#9
Laura J Stoppel, Benjamin D Auerbach, Rebecca K Senter, Anthony R Preza, Robert J Lefkowitz, Mark F Bear
Synaptic protein synthesis is essential for modification of the brain by experience and is aberrant in several genetically defined disorders, notably fragile X (FX), a heritable cause of autism and intellectual disability. Neural activity directs local protein synthesis via activation of metabotropic glutamate receptor 5 (mGlu5), yet how mGlu5 couples to the intracellular signaling pathways that regulate mRNA translation is poorly understood. Here, we provide evidence that β-arrestin2 mediates mGlu5-stimulated protein synthesis in the hippocampus and show that genetic reduction of β-arrestin2 corrects aberrant synaptic plasticity and cognition in the Fmr1(-/y) mouse model of FX...
March 21, 2017: Cell Reports
https://www.readbyqxmd.com/read/28328354/harms-of-deception-in-fmr1-premutation-genotype-driven-recruitment
#10
Sam Doernberg, Sara Chandros Hull
No abstract text is available yet for this article.
April 2017: American Journal of Bioethics: AJOB
https://www.readbyqxmd.com/read/28322282/maternal-immune-activation-dysregulation-of-the-fetal-brain-transcriptome-and-relevance-to-the-pathophysiology-of-autism-spectrum-disorder
#11
M V Lombardo, H M Moon, J Su, T D Palmer, E Courchesne, T Pramparo
Maternal immune activation (MIA) via infection during pregnancy is known to increase risk for autism spectrum disorder (ASD). However, it is unclear how MIA disrupts fetal brain gene expression in ways that may explain this increased risk. Here we examine how MIA dysregulates rat fetal brain gene expression (at a time point analogous to the end of the first trimester of human gestation) in ways relevant to ASD-associated pathophysiology. MIA downregulates expression of ASD-associated genes, with the largest enrichments in genes known to harbor rare highly penetrant mutations...
March 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28316753/a-resting-eeg-study-of-neocortical-hyperexcitability-and-altered-functional-connectivity-in-fragile-x-syndrome
#12
Jun Wang, Lauren E Ethridge, Matthew W Mosconi, Stormi P White, Devin K Binder, Ernest V Pedapati, Craig A Erickson, Matthew J Byerly, John A Sweeney
BACKGROUND: Cortical hyperexcitability due to abnormal fast-spiking inhibitory interneuron function has been documented in fmr1 KO mice, a mouse model of the fragile X syndrome which is the most common single gene cause of autism and intellectual disability. METHODS: We collected resting state dense-array electroencephalography data from 21 fragile X syndrome (FXS) patients and 21 age-matched healthy participants. RESULTS: FXS patients exhibited greater gamma frequency band power, which was correlated with social and sensory processing difficulties...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28301083/age-specific-autistic-like-behaviors-in-heterozygous-fmr1-ko-female-mice
#13
Manon Gauducheau, Valerie Lemaire-Mayo, Francesca R D'Amato, Diego Oddi, Wim E Crusio, Susanna Pietropaolo
Fragile X syndrome (FXS) is a major developmental disorder and the most frequent monogenic cause of autism. Surprisingly, most existing studies on the Fmr1-KO mouse model for FXS have focused on males, although FX women, who are mostly heterozygous for the Fmr1 mutation, are known to exhibit several behavioral deficits, including autistic-like features. Furthermore, most animal research has been carried out on adults only; so that little is known about the age progression of the behavioral phenotype of Fmr1 mutants, which is a crucial issue to optimize the impact of therapeutic interventions...
March 16, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28278294/validation-of-a-commercially-available-test-that-enables-the-quantification-of-the-numbers-of-cgg-trinucleotide-repeat-expansion-in-fmr1-gene
#14
Grace X Y Lim, Minli Yeo, Yvonne Y Koh, Tri Indah Winarni, Indhu-Shree Rajan-Babu, Samuel S Chong, Sultana M H Faradz, Ming Guan
In the present study, we evaluated a commercially available TP-PCR-based assay, the FastFraXTM FMR1 Sizing kit, as a test in quantifying the number of CGG repeats in the FMR1 gene. Based on testing with well characterized DNA samples from Coriell, the kit yielded size results within 3 repeats of those obtained by common consensus (n = 14), with the exception of one allele. Furthermore, based on data obtained using all Coriell samples with or without common consensus (n = 29), the Sizing kit was 97.5% in agreement with existing approaches...
2017: PloS One
https://www.readbyqxmd.com/read/28257890/a-novel-role-of-fragile-x-mental-retardation-protein-in-pre-mrna-alternative-splicing-through-rna-binding-protein-14
#15
Lin-Tao Zhou, Shun-Hua Ye, Hai-Xuan Yang, Yong-Ting Zhou, Qi-Hua Zhao, Wei-Wen Sun, Mei-Mei Gao, Yong-Hong Yi, Yue-Sheng Long
Fragile X mental retardation protein (FMRP), an important RNA-binding protein responsible for fragile X syndrome, is involved in posttranscriptional control of gene expression that links with brain development and synaptic functions. Here, we reveal a novel role of FMRP in pre-mRNA alternative splicing, a general event of posttranscriptional regulation. Using co-immunoprecipitation and immunofluorescence assays, we identified that FMRP interacts with an alternative-splicing-associated protein RNA-binding protein 14 (RBM14) in a RNA-dependent fashion, and the two proteins partially colocalize in the nuclei of hippocampal neurons...
February 28, 2017: Neuroscience
https://www.readbyqxmd.com/read/28253484/identification-of-fragile-x-pre-mutation-carriers-in-the-chinese-obstetric-population-using-a-robust-fmr1-polymerase-chain-reaction-assay-implications-for-screening-and-prenatal-diagnosis
#16
Y Ky Cheng, C Sw Lin, Y Ky Kwok, Y M Chan, T K Lau, T Y Leung, K W Choy
INTRODUCTION: There is significant morbidity associated with fragile X syndrome. Unfortunately, most maternal carriers are clinically silent during their reproductive years. Because of this, many experts have put forward the notion of preconception or prenatal fragile X carrier screening for females. This study aimed to determine the prevalence of fragile X syndrome pre-mutation and asymptomatic full-mutation carriers in a Chinese pregnant population, and the distribution of cytosine-guanine-guanine (CGG) repeat numbers using a robust fragile X mental retardation 1 (FMR1) polymerase chain reaction assay...
March 3, 2017: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
https://www.readbyqxmd.com/read/28223318/a-drosophila-model-of-fragile-x-syndrome-exhibits-defects-in-phagocytosis-by-innate-immune-cells
#17
Reed M O'Connor, Elizabeth F Stone, Charlotte R Wayne, Emily V Marcinkevicius, Matt Ulgherait, Rebecca Delventhal, Meghan M Pantalia, Vanessa M Hill, Clarice G Zhou, Sophie McAllister, Anna Chen, Jennifer S Ziegenfuss, Wesley B Grueber, Julie C Canman, Mimi M Shirasu-Hiza
Fragile X syndrome, the most common known monogenic cause of autism, results from the loss of FMR1, a conserved, ubiquitously expressed RNA-binding protein. Recent evidence suggests that Fragile X syndrome and other types of autism are associated with immune system defects. We found that Drosophila melanogaster Fmr1 mutants exhibit increased sensitivity to bacterial infection and decreased phagocytosis of bacteria by systemic immune cells. Using tissue-specific RNAi-mediated knockdown, we showed that Fmr1 plays a cell-autonomous role in the phagocytosis of bacteria...
March 6, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28222427/impact-of-fmr1-pre-mutation-status-on-blastocyst-development-in-patients-undergoing-pre-implantation-genetic-diagnosis
#18
Anne P Hutchinson, Nigel Pereira, Debra P Lilienthal, Siobhán Coveney, Jovana P Lekovich, Rony T Elias, Zev Rosenwaks
BACKGROUND/AIMS: The study aimed to investigate the impact of fragile X mental retardation 1 (FMR1) pre-mutation status on blastocyst development in patients undergoing pre-implantation genetic diagnosis (PGD). METHODS: Case-control study of patients <40 years undergoing PGD at blastocyst stage for FMR1 pre-mutation status. Age-matched patients undergoing PGD for other single gene disorders were considered controls. Blastocyst development, calculated per metaphase II (MII) oocyte retrieved and per 2 pronuclear (2PN) embryos, was compared between the 2 groups...
February 22, 2017: Gynecologic and Obstetric Investigation
https://www.readbyqxmd.com/read/28218824/decreased-home-cage-movement-and-oromotor-impairments-in-adult-fmr1-ko-mice
#19
S J Bonasera, T R Chaudoin, E H Goulding, M Mittek, A Dunaevsky
Fragile X syndrome (FXS) is a common inherited disorder that significantly impacts family and patient day-to-day living across the entire life span. The childhood and adolescent behavioral consequences of FXS are well appreciated. However, there are significantly fewer studies (except those examining psychiatric comorbidities) assessing behavioral phenotypes seen in adults with FXS. Mice engineered with a genetic lesion of fragile X mental retardation 1 (Fmr1) recapitulate important molecular and neuroanatomical characteristics of FXS, and provide a means to evaluate adult behavioral phenotypes associated with FXS...
February 20, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28218269/enhanced-expression-of-adcy1-underlies-aberrant-neuronal-signalling-and-behaviour-in-a-syndromic-autism-model
#20
Ferzin Sethna, Wei Feng, Qi Ding, Alfred J Robison, Yue Feng, Hongbing Wang
Fragile X syndrome (FXS), caused by the loss of functional FMRP, is a leading cause of autism. Neurons lacking FMRP show aberrant mRNA translation and intracellular signalling. Here, we identify that, in Fmr1 knockout neurons, type 1 adenylyl cyclase (Adcy1) mRNA translation is enhanced, leading to excessive production of ADCY1 protein and insensitivity to neuronal stimulation. Genetic reduction of Adcy1 normalizes the aberrant ERK1/2- and PI3K-mediated signalling, attenuates excessive protein synthesis and corrects dendritic spine abnormality in Fmr1 knockout mice...
February 20, 2017: Nature Communications
keyword
keyword
25021
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"