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Article

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

International journal of molecular sciences - 27 Sept 2021

Fisher Paul R, Allan Claire Y, Sanislav Oana, Atkinson Anna, Ngoei Kevin R W, Kemp Bruce E, Storey Elsdon, Loesch Danuta Z, Annesley Sarah J

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...

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Share to AMP-Activated Protein Kinases
Share to Fragile X Mental Retardation Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34638732
DOI: 10.3390/ijms221910393
PMCID: PMC8508849

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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