bioRxiv · 10.1101/278416
Intracellular FMRpolyG-HSP70 complex: Possible use as biochemical marker of Fragile X Tremor Ataxia Syndrome
Abstract
INTRODUCTION INTRODUCTION MATERIALS AND METHODS RESULTS DISCUSSION Author Contributions AKNOWLEDGMENTS CONFLICT OF INTEREST References Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that affects about 25% of carriers of non-coding CGG-repeat expansions (55-200 repeats) in the premutation range within the fragile X gene (FMR1). Main clinical features include intention tremor, cerebellar ataxia, and Parkinsonism [1]. Recently, great emphasis on the pathogenetic role of toxic aggregates, produced by a RAN translation process on the 5 expanded CGG region, has been given [2,3]. These aggregates contain a small protein with a polyglycin stretch, (FMRpolyG), a ...
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Bonapace, G., Gullace, R., Concolino, D., Iannello, G., Procopio, R., Gagliardi, M., Arabia, G., Barbagallo, G., Lupo, A., Manfredini, L. I., Annesi, G., Quattrone, A.. 2018-03-07. Intracellular FMRpolyG-HSP70 complex: Possible use as biochemical marker of Fragile X Tremor Ataxia Syndrome. https://doi.org/10.1101/278416
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