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

All individual differences between the increases in the three motor scores, and decreases in the cognitive scores included here, were highly significant between FXTAS and the non-FXTAS subgroups ( p < 0.01).

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However, both AMPK and TORC1 showed a trend towards tracking the CGG repeat size in these two subgroups combined, though, in our data, the respective associations were not statistically significant.

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Our comparative results demonstrated an inverse pattern of TORC1 to that of AMPK activities, by showing a highly significant decrease in non-FXTAS relative to healthy controls, and only a slight trend upward in the FXTAS-compared with the non-FXTAS subgroup.

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