Friedreich's ataxia(FRDA)is a rare genetic disorder characterized by motor discoordination and cerebellar involvement due to mutations in the frataxin(FXN)gene,which encodes a mitochondrial protein involved in iro...Friedreich's ataxia(FRDA)is a rare genetic disorder characterized by motor discoordination and cerebellar involvement due to mutations in the frataxin(FXN)gene,which encodes a mitochondrial protein involved in ironsulfur cluster biogenesis and iron handling."While progress has been made in understanding FRDA's pathophysiology and cerebellar degeneration caused by frataxin deficiency,the role of central nervous system(CNS)-resident nonneuronal cells,as microglia,necessitates further investigation.展开更多
基金funded by the National Ataxia Foundation (NAF)and Friedreich's Ataxia Research Alliance (FARA) (n°821396[RG])to Nadia D'Ambrosiby Next Generation EU PRIN PNRR 2022 (N°P2022JKTWH)to Nadia D'Ambrosi and Mauro Cozzolino,by FARA Research Grant 2019 to Katia Aquilanoby FARA Research Grant 2021 to Daniele Lettieri-Barbato.
文摘Friedreich's ataxia(FRDA)is a rare genetic disorder characterized by motor discoordination and cerebellar involvement due to mutations in the frataxin(FXN)gene,which encodes a mitochondrial protein involved in ironsulfur cluster biogenesis and iron handling."While progress has been made in understanding FRDA's pathophysiology and cerebellar degeneration caused by frataxin deficiency,the role of central nervous system(CNS)-resident nonneuronal cells,as microglia,necessitates further investigation.
