Article

Glial dysregulation in human brain in Fragile X-related disorders

2022-03-29

Abstract excerpt

<h4> Abstract </h4> While large trinucleotide repeat expansions at the FMR1 locus cause Fragile X Syndrome (FXS), smaller “premutations” are associated with the late-onset condition Fragile X-associated tremor/ataxia syndrome (FXTAS), which shows very different clinical and pathological features, with no clear molecular explanation for these marked differences. One prevailing theory posits that the premutation...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 542bbeef-d990-5cab-b30f-de6411c3c966
DOI: 10.1101/2022.03.29.486195

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Glial dysregulation in human brain in Fragile X-related disordersDOI 10.1101/2022.03.29.486195Read

Lessons from fragile X regarding neurobiology, autism, and neurodegeneration.Semantic proximity Read

Blood expression profiles of fragile X premutation carriers identify candidate genes involved in neurodegenerative and infertility phenotypes.Semantic proximity Read

Altered expression of the FMR1 splicing variants landscape in premutation carriers.Semantic proximity Read

Elevated FMR1-mRNA and lowered FMRP - A double-hit mechanism for psychiatric features in men with FMR1 premutations.Semantic proximity Read

FXTAS: a progressive neurologic syndrome associated with Fragile X premutation.Semantic proximity Read

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications.Semantic proximity Read

RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome.Semantic proximity Read

Fibroblast phenotype in male carriers of FMR1 premutation alleles.Semantic proximity Read

Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome.Semantic proximity Read

Integrative analysis identifies key molecular signatures underlying neurodevelopmental deficits in fragile X syndromeSemantic proximity Read

The pathophysiology of fragile x syndrome.Semantic proximity Read

Divergent impacts of <i>C9orf72</i> repeat expansion on neurons and glia in ALS and FTDSemantic proximity Read