Article
Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration.
Scientific reports - 18 Mar 2024
Yamada Mamiko, Maeta Kazuhiro, Suzuki Hisato, Kurosawa Ryo, Takenouchi Toshiki, Awaya Tomonari, Ajiro Masahiko, Takeuchi Atsuko, Nishio Hisahide, Hagiwara Masatoshi, Miya Fuyuki, Matsuo Masafumi, Kosaki Kenjiro
Abstract excerpt
Pathogenic variants in WDR45 on chromosome Xp11 cause neurodegenerative disorder beta-propeller protein-associated neurodegeneration (BPAN). Currently, there is no effective therapy for BPAN. Here we report a 17-year-old female patient with BPAN and show that antisense oligonucleotide (ASO) was effective in vitro. The patient had developmental delay and later showed extrapyramidal signs since the age of 15 years....
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