Altered Bioenergetics in Primary Dermal Fibroblasts from Adult Carriers of the FMR1 Premutation Before the Onset of the Neurodegenerative Disease Fragile X-Associated Tremor/Ataxia Syndrome. [electronic resource]
- Cerebellum (London, England) 10 2016
- 552-64 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1473-4230
10.1007/s12311-016-0779-8 doi
Adenosine Triphosphate--metabolism Adolescent Adult Ataxia--metabolism Biomarkers--metabolism Cells, Cultured Child Citrate (si)-Synthase--metabolism Dermis--metabolism Endophenotypes--metabolism Fibroblasts--metabolism Fragile X Mental Retardation Protein--genetics Fragile X Syndrome--metabolism Heterozygote Humans Male Middle Aged Mitochondria--metabolism Oxidative Stress--physiology Oxygen--metabolism Prodromal Symptoms Tremor--metabolism Trinucleotide Repeat Expansion Young Adult