Article

Relationships Between Mitochondrial Function, AMPK and TORC1 Signalling in Lymphoblasts with Premutation Alleles of the FMR1 Gene

2021-09-23

Abstract excerpt

The X-linked FMR1 gene contains a non-coding trinucleotide repeat in its 5’ region that in normal, healthy individuals contains 20-44 copies. Large expansions of this region (>200 copies) cause fragile X syndrome (FXS), but expansions of 55-199 copies (referred to as premutation alleles) predispose carriers to a neurodegenerative disease called fragile X-associated tremor/ataxia syndrome (FXTAS). The cyto...

Topics

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

Identifiers and source

Literature Corpus work: 00c2e7f6-ad00-5b1d-9a8f-58abb69fb5f5
DOI: 10.20944/preprints202109.0401.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Relationships Between Mitochondrial Function, AMPK and TORC1 Signalling in Lymphoblasts with Premutation Alleles of the FMR1 GeneDOI 10.20944/preprints202109.0401.v1Read

Relationships between Mitochondrial Function, AMPK, and TORC1 Signaling in Lymphoblasts with Premutation Alleles of the FMR1 Gene.Semantic proximity Read

Warburg effect linked to cognitive-executive deficits in FMR1 premutation.Semantic proximity Read

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.Semantic proximity Read

Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders.Semantic proximity Read

Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome.Semantic proximity Read

Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene.Semantic proximity Read

Insight and Recommendations for Fragile X Premutation Associated Conditions from the 5th International Conference on <em>FMR1</em> PremutationSemantic proximity Read

Metabolic profiling reveals dysregulated lipid metabolism and potential biomarkers associated with the development and progression of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).Semantic proximity Read

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

Autism spectrum disorder in the fragile X premutation state: possible mechanisms and implications.Semantic proximity Read

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

Role of mitochondrial DNA variants in the development of fragile X-associated tremor/ataxia syndrome.Semantic proximity Read