Article
A point mutation in GPI-attachment signal peptide accelerates the development of prion disease.
Acta neuropathologica - 1 May 2023
Kobayashi Atsushi, Hirata Tetsuya, Shimazaki Taishi, Munesue Yoshiko, Aoshima Keisuke, Kimura Takashi, Nio-Kobayashi Junko, Hasebe Rie, Takeuchi Atsuko, Matsuura Yuichi, Kusumi Satoshi, Koga Daisuke, Iwasaki Yasushi, Kinoshita Taroh, Mohri Shirou, Kitamoto Tetsuyuki
Abstract excerpt
A missense variant from methionine to arginine at codon 232 (M232R) of the prion protein gene accounts for ~ 15% of Japanese patients with genetic prion diseases. However, pathogenic roles of the M232R substitution for the induction of prion disease have remained elusive because family history is usually absent in patients with M232R. In addition, the clinicopathologic phenotypes of patients with M232R are...
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