A splice-switching oligonucleotide treatment ameliorates glycogen storage disease type 1a in mice with G6PC c.648G>T

Glycogen storage disease type 1a (GSD1a) is caused by a congenital deficiency of glucose-6-phosphatase-α (G6Pase-α, encoded by G6PC), which is primarily associated with life-threatening hypoglycemia. Although strict dietary management substantially improves life expectancy, patients still experience...

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Detalles Bibliográficos
Autores principales: Ito, Kentaro, Tajima, Go, Kamisato, Chikako, Tsumura, Miyuki, Iwamoto, Mitsuhiro, Sekiguchi, Yukiko, Numata, Yukinobu, Watanabe, Kyoko, Yabe, Yoshiyuki, Kanki, Satomi, Fujieda, Yusuke, Goto, Koichi, Sogawa, Yoshitaka, Oitate, Masataka, Nagase, Hiroyuki, Tsuji, Shinnosuke, Nishizawa, Tomohiro, Kakuta, Masayo, Masuda, Takeshi, Onishi, Yoshiyuki, Koizumi, Makoto, Nakamura, Hidefumi, Okada, Satoshi, Matsuo, Masafumi, Takaishi, Kiyosumi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10688987/
https://www.ncbi.nlm.nih.gov/pubmed/37788110
http://dx.doi.org/10.1172/JCI163464

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