Cellular Bioenergetics and AMPK and TORC1 Signalling in Blood Lymphoblasts Are Biomarkers of Clinical Status in FMR1 Premutation Carriers

Cellular Bioenergetics and AMPK and TORC1 Signalling in Blood Lymphoblasts Are Biomarkers of Clinical Status in FMR1 Premutation Carriers

Fragile X Associated Tremor/Ataxia Syndrome (FXTAS) is a neurodegenerative disorder affecting carriers of premutation alleles (PM) of the X-linked FMR1 gene, which contain CGG repeat expansions of 55–200 range in a non-coding region. This late-onset disorder is characterised by the presence of tremo...

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Bibliographic Details
Main Authors: Danuta Z. Loesch, Bruce E. Kemp, Minh Q. Bui, Paul R. Fisher, Claire Y. Allan, Oana Sanislav, Kevin R. W. Ngoei, Anna Atkinson, Flora Tassone, Sarah J. Annesley, Elsdon Storey
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-11-01
Series:Frontiers in Psychiatry
Subjects:
FMR1 premutation
Fragile X-associated tremor/ataxia syndrome (FXTAS)
motor scores
SCL-90 scale
lymphoblasts' bioenergetics measures
AMPK
Online Access:https://www.frontiersin.org/articles/10.3389/fpsyt.2021.747268/full

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https://www.frontiersin.org/articles/10.3389/fpsyt.2021.747268/full

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