Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV
Naito, Chie, Kosar, Karis, Kishimoto, Eriko, Pena, Loren, Huang, Yilun, Hao, Kaili, Bernieh, Anas, Kasten, Jennifer, Villa, Chet, Kishnani, Priya, Deeksha, Bali, Gu, Mingxia, Asai, Akihiro
Published in Molecular genetics and metabolism reports (01.06.2024)
Published in Molecular genetics and metabolism reports (01.06.2024)
Get full text
Journal Article
Human iPSC-derived hepatocyte system models cholestasis with tight junction protein 2 deficiency
Li, Chao Zheng, Ogawa, Hiromi, Ng, Soon Seng, Chen, Xindi, Kishimoto, Eriko, Sakabe, Kokoro, Fukami, Aiko, Hu, Yueh-Chiang, Mayhew, Christopher N., Hellmann, Jennifer, Miethke, Alexander, Tasnova, Nahrin L., Blackford, Samuel J.I., Tang, Zu Ming, Syanda, Adam M., Ma, Liang, Xiao, Fang, Sambrotta, Melissa, Tavabie, Oliver, Soares, Filipa, Baker, Oliver, Danovi, Davide, Hayashi, Hisamitsu, Thompson, Richard J., Rashid, S. Tamir, Asai, Akihiro
Published in JHEP reports (01.04.2022)
Published in JHEP reports (01.04.2022)
Get full text
Journal Article
Modeling Human Bile Acid Transport and Synthesis in Stem Cell-Derived Hepatocytes with a Patient-Specific Mutation
Hayashi, Hisamitsu, Osaka, Shuhei, Sakabe, Kokoro, Fukami, Aiko, Kishimoto, Eriko, Aihara, Eitaro, Sabu, Yusuke, Mizutani, Ayumu, Kusuhara, Hiroyuki, Naritaka, Nakayuki, Zhang, Wujuan, Huppert, Stacey S., Sakabe, Masahide, Nakamura, Takahisa, Hu, Yueh-Chiang, Mayhew, Christopher, Setchell, Kenneth, Takebe, Takanori, Asai, Akihiro
Published in Stem cell reports (09.02.2021)
Published in Stem cell reports (09.02.2021)
Get full text
Journal Article