Phenotypic impact of FXN gene splicing reprogramming in Friedreich Ataxia cells and mice

id="offer-description" class="ecl-u-type-heading-2 ecl-u-mt-none ecl-u-mb-l">Offer Description Friedreich Ataxia (FRDA) is a rare, progressive neurodegenerative disorder caused by a GAA trinucleotide repeat expansion in the first intron of the FXN gene, resulting in reduced expression of frataxin, a mitochondrial protein essential for iron-sulfur cluster biogenesis and cellular energy metabolism. Frataxin deficiency leads to mitochondrial dysfunction and progressive neurological and cardiac manifestations, with cardiomyopathy representing a major cause of morbidity and mortality. The research program aims to investigate the molecular and functional consequences of a novel therapeutic strategy designed to increase endogenous frataxin expression through reprogramming of FXN pre-mRNA alternative splicing. [. ]. Where to apply Website http://www.unitn.it . Requirements. Additional Information . Eligibility criteria. Eligible destination country/ies for fellows: . AFRICA. EUROPE. OCEANIA. NORTH AMERICA. SOUTH AMERICA. ASIA. OTHER. E.U. CHINA (MAINLAND). CHINA (HONG KONG). Eligibility of fellows: country/ies of residence: . AFRICA. EUROPE. OCEANIA. NORTH AMERICA. SOUTH AMERICA. ASIA. OTHER. E.U. CHINA (MAINLAND). CHINA (HONG KONG). Eligibility of fellows: nationality/ies: . AFRICA. EUROPE. OCEANIA. NORTH AMERICA. SOUTH AMERICA. ASIA. OTHER. E.U. CHINA (MAINLAND). CHINA (HONG KONG). Additional comments. Contact email: [email protected] . Contact phone: +39 0461 281620 - 115