CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. - Test2 - elhamkhani - TriplyDB

CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome.

CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome.

http://www.wikidata.org/entity/Q37021134

about

Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI)The multiple molecular facets of fragile X-associated tremor/ataxia syndrome Unstable mutations in the FMR1 gene and the phenotypes Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS.Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP)Comprehensive neurocognitive endophenotyping strategies for mouse models of genetic disorders CGG repeat in the FMR1 gene: size matters Mouse models of fragile X-associated tremor ataxia.Fibroblast phenotype in male carriers of FMR1 premutation alleles CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size.Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome.Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome.Gender and cell-type-specific effects of the transcription-coupled repair protein, ERCC6/CSB, on repeat expansion in a mouse model of the fragile X-related disorders Abnormal N400 word repetition effects in fragile X-associated tremor/ataxia syndrome.Advances in understanding the molecular basis of FXTAS Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder.Temporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutation.Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome Expression of an expanded CGG-repeat RNA in a single pair of primary sensory neurons impairs olfactory adaptation in Caenorhabditis elegans.The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia.Cerebral protein synthesis in a knockin mouse model of the fragile X premutation.Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development.Molecular Advances Leading to Treatment Implications for Fragile X Premutation Carriers Initiation of translation of the FMR1 mRNA Occurs predominantly through 5'-end-dependent ribosomal scanning Activation of mTOR ameliorates fragile X premutation rCGG repeat-mediated neurodegeneration Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation.Motor deficits on a ladder rung task in male and female adolescent and adult CGG knock-in mice Rare intranuclear inclusions in the brains of 3 older adult males with fragile x syndrome: implications for the spectrum of fragile x-associated disorders Mouse models of the fragile x premutation and the fragile X associated tremor/ataxia syndrome.Abnormal dendrite and spine morphology in primary visual cortex in the CGG knock-in mouse model of the fragile X premutation A mouse model of the fragile X premutation: effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis.Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles.Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.Repeat-mediated epigenetic dysregulation of the FMR1 gene in the fragile X-related disorders.Female CGG knock-in mice modeling the fragile X premutation are impaired on a skilled forelimb reaching task Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanolone.Spatiotemporal processing deficits in female CGG KI mice modeling the fragile X premutation.Current Gaps in Understanding the Molecular Basis of FXTAS

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CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome.

http://www.wikidata.org/entity/Q37021134

description

2008 nî lūn-bûn

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2008年の論文

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年學術文章

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2008年學術文章

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2008年學術文章

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name

CGG-repeat length and neuropat ...... ciated tremor/ataxia syndrome.

@en

CGG-repeat length and neuropat ...... ciated tremor/ataxia syndrome.

@nl

type

label

CGG-repeat length and neuropat ...... ciated tremor/ataxia syndrome.

@en

CGG-repeat length and neuropat ...... ciated tremor/ataxia syndrome.

@nl

prefLabel

CGG-repeat length and neuropat ...... ciated tremor/ataxia syndrome.

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CGG-repeat length and neuropat ...... ciated tremor/ataxia syndrome.

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J.1471-4159.2008.05747.X

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Journal of Neurochemistry

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CGG-repeat length and neuropat ...... ociated tremor/ataxia syndrome

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Ben A Oostra

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Judith R Brouwer

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Karin Huizer

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Lies-Anne Severijnen

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Rob Willemsen

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Robert F Berman

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P2860

Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy

Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation

The fragile-X premutation: a maturing perspective.

In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts

A fragile balance: FMR1 expression levels

Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population

Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

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1671-1682

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Renate K Hukema

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2008-11-10T00:00:00Z

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23478625

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19014369

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fragile X-associated tremor/ataxia syndrome

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2605773

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