Mice harboring the FXN I151F pathological point mutation present decreased frataxin levels, a Friedreich ataxia-like phenotype, and mitochondrial alterations
Sign Up to like & getrecommendations! Published in 2022 at "Cellular and Molecular Life Sciences"
DOI: 10.1007/s00018-021-04100-5
Abstract: Friedreich Ataxia (FA) is a rare neuro-cardiodegenerative disease caused by mutations in the frataxin (FXN) gene. The most prevalent mutation is a GAA expansion in the first intron of the gene causing decreased frataxin expression.… read more here.
Keywords: friedreich ataxia; decreased frataxin; point mutation; mutation ... See more keywords
Pathological point of view on the atomic bomb-related solid cancers.
Sign Up to like & getrecommendations! Published in 2025 at "Carcinogenesis"
DOI: 10.1093/carcin/bgaf072
Abstract: Eighty years have passed since the atomic bombings (A-bombing) of Hiroshima and Nagasaki in August 1945. Survivors represent an unparalleled and irreplaceable human cohort for comprehensively studying the long-term carcinogenic effects of radiation exposure. This… read more here.
Keywords: solid cancers; pathological point; radiation; bomb radiation ... See more keywords