A protein called RNF126 mediates the degradation of the frataxin protein in cells of people with Friedreich’s ataxia, a new study presented at…
Articles by Patricia Inácio, PhD
A next-generation sequencing technique known as whole exome sequencing (WES) led to new genetic variants for childhood-onset ataxias being identified — including some…
Recent advances in next-generation sequencing techniques are helping to revolutionize genetic testing, potentially ending the “diagnostic odyssey” that ataxia patients can now…
Dozens of scientists from universities and pharmaceutical companies will come together at the 2nd International Ataxia Research Conference in Pisa,…
Missing 184 class periods in a year due to fatigue. Having someone tell the school principal you’re drunk because of…
Researchers detected alterations in cerebral brain functions of patients with Friedreich’s ataxia and believe they may mitigate the impact of motor impairments of the disease. The…
A group of brain diseases known as sporadic late-onset acute cerebellar ataxias have been attributed to lots of causes, so…
Molecules released by certain stem cells may promote an increase of frataxin protein and rescue cellular function, researchers have shown in…
Low levels of frataxin protein, the hallmark of Friedreich’s ataxia, do not seem to impact the function of red blood…
Liver growth factor (LGF) increased the frataxin protein and reduced oxidative stress when administered to mice with Friedreich’s ataxia (FA).