Developmental aspects of FXAND in a man with the FMR1 premutation
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1050
Abstract: Fragile X mental retardation 1 (FMR1) premutation can cause developmental problems including autism spectrum disorder (ASD), social anxiety, depression, and attention deficit hyperactivity disorder (ADHD). These problems fall under an umbrella term of Fragile X‐associated… read more here.
Keywords: aspects fxand; fmr1 premutation; fmr1; developmental aspects ... See more keywords
The Newborn Fmr1 Knockout Mouse: A Novel Model of Excess Ubiquinone and Closed Mitochondrial Permeability Transition Pore in the Developing Heart
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric research"
DOI: 10.1038/s41390-020-1064-6
Abstract: Background Mitochondrial permeability transition pore (mPTP) closure triggers cardiomyocyte differentiation during development while pathological opening causes cell death during myocardial ischemia-reperfusion and heart failure. Ubiquinone modulates the mPTP; however, little is known about its mechanistic… read more here.
Keywords: ubiquinone; heart; fmr1; newborn fmr1 ... See more keywords
Missense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice
Sign Up to like & getrecommendations! Published in 2021 at "Nature Communications"
DOI: 10.1038/s41467-021-21820-1
Abstract: Fragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and the best-described monogenic cause of autism. CGG-repeat expansion in the FMR1 gene leads to FMR1 silencing, loss-of-expression of the Fragile X… read more here.
Keywords: results impaired; cognitive deficits; deficits mice; fmr1 ... See more keywords
Adult Fmr1 knockout mice present with deficiencies in hippocampal interleukin-6 and tumor necrosis factor-&agr; expression
Sign Up to like & getrecommendations! Published in 2017 at "NeuroReport"
DOI: 10.1097/wnr.0000000000000905
Abstract: Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by a single genetic mutation in the FMR1 gene. Mutations in the FMR1 gene are the largest monogenic cause of autism spectrum disorder (ASD), and thus… read more here.
Keywords: fmr1; expression; tumor necrosis; mice ... See more keywords
The fragile X mutation impairs homeostatic plasticity in human neurons by blocking synaptic retinoic acid signaling
Sign Up to like & getrecommendations! Published in 2018 at "Science Translational Medicine"
DOI: 10.1126/scitranslmed.aar4338
Abstract: Inactivation of the Fmr1 gene that is mutated in fragile X syndrome leads to loss of retinoic acid–mediated homeostatic plasticity in human neurons. A fragile neuronal network Inactivation of the fragile X mental retardation 1… read more here.
Keywords: human neurons; fmr1; homeostatic plasticity; retinoic acid ... See more keywords
Evaluating the effect of R-Baclofen and LP-211 on autistic behavior of the BTBR and Fmr1-KO mouse models
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Neuroscience"
DOI: 10.3389/fnins.2023.1087788
Abstract: Introduction Autism spectrum disorder (ASD) is a persistent neurodevelopmental condition characterized by two core behavioral symptoms: impaired social communication and interaction, as well as stereotypic, repetitive behavior. No distinct cause of ASD is known so… read more here.
Keywords: behavior; baclofen 211; mice; fmr1 ... See more keywords
Modeling Fragile X Syndrome in Drosophila
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2018.00124
Abstract: Intellectual disability (ID) and autism are hallmarks of Fragile X Syndrome (FXS), a hereditary neurodevelopmental disorder. The gene responsible for FXS is Fragile X Mental Retardation gene 1 (FMR1) encoding the Fragile X Mental Retardation… read more here.
Keywords: modeling fragile; fmr1; fragile syndrome; syndrome drosophila ... See more keywords
New Insights Into the Role of Cav2 Protein Family in Calcium Flux Deregulation in Fmr1-KO Neurons
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2018.00342
Abstract: Fragile X syndrome (FXS), the most common form of inherited intellectual disability (ID) and a leading cause of autism, results from the loss of expression of the Fmr1 gene which encodes the RNA-binding protein Fragile… read more here.
Keywords: role cav2; fmr1; ca2; calcium ... See more keywords
Efficient Delivery of FMR1 across the Blood Brain Barrier Using AAVphp Construct in Adult FMR1 KO Mice Suggests the Feasibility of Gene Therapy for Fragile X Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes14020505
Abstract: Background Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism. Gene therapy may offer an efficient method to ameliorate symptoms of the disorder. Methods An AAVphp.eb-hSyn-mFMR1IOS7 vector and an… read more here.
Keywords: brain; gene therapy; delivery; fmr1 ... See more keywords