Nature Communications (Jun 2020)
Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5
- Tomohiko Yamamura,
- Tomoko Horinouchi,
- Tomomi Adachi,
- Maki Terakawa,
- Yutaka Takaoka,
- Kohei Omachi,
- Minoru Takasato,
- Kiyosumi Takaishi,
- Takao Shoji,
- Yoshiyuki Onishi,
- Yoshito Kanazawa,
- Makoto Koizumi,
- Yasuko Tomono,
- Aki Sugano,
- Akemi Shono,
- Shogo Minamikawa,
- China Nagano,
- Nana Sakakibara,
- Shinya Ishiko,
- Yuya Aoto,
- Misato Kamura,
- Yutaka Harita,
- Kenichiro Miura,
- Shoichiro Kanda,
- Naoya Morisada,
- Rini Rossanti,
- Ming Juan Ye,
- Yoshimi Nozu,
- Masafumi Matsuo,
- Hirofumi Kai,
- Kazumoto Iijima,
- Kandai Nozu
Affiliations
- Tomohiko Yamamura
- Department of Pediatrics, Kobe University Graduate School of Medicine
- Tomoko Horinouchi
- Department of Pediatrics, Kobe University Graduate School of Medicine
- Tomomi Adachi
- Rare Disease Laboratories, Daiichi Sankyo Co., Ltd.
- Maki Terakawa
- Rare Disease Laboratories, Daiichi Sankyo Co., Ltd.
- Yutaka Takaoka
- Division of Medical Informatics and Bioinformatics, Kobe University Hospital
- Kohei Omachi
- Department of Molecular Medicine, Graduate School of Pharmaceutical Sciences, Kumamoto University
- Minoru Takasato
- RIKEN Center for Developmental Biology
- Kiyosumi Takaishi
- Rare Disease Laboratories, Daiichi Sankyo Co., Ltd.
- Takao Shoji
- Modality Research Laboratories, Daiichi Sankyo Co., Ltd.
- Yoshiyuki Onishi
- Modality Research Laboratories, Daiichi Sankyo Co., Ltd.
- Yoshito Kanazawa
- Modality Research Laboratories, Daiichi Sankyo Co., Ltd.
- Makoto Koizumi
- Modality Research Laboratories, Daiichi Sankyo Co., Ltd.
- Yasuko Tomono
- Division of Molecular Cell Biology, Shigei Medical Research Institute
- Aki Sugano
- Division of Medical Informatics and Bioinformatics, Kobe University Hospital
- Akemi Shono
- Department of Pediatrics, Kobe University Graduate School of Medicine
- Shogo Minamikawa
- Department of Pediatrics, Kobe University Graduate School of Medicine
- China Nagano
- Department of Pediatrics, Kobe University Graduate School of Medicine
- Nana Sakakibara
- Department of Pediatrics, Kobe University Graduate School of Medicine
- Shinya Ishiko
- Department of Pediatrics, Kobe University Graduate School of Medicine
- Yuya Aoto
- Department of Pediatrics, Kobe University Graduate School of Medicine
- Misato Kamura
- Department of Molecular Medicine, Graduate School of Pharmaceutical Sciences, Kumamoto University
- Yutaka Harita
- Department of Pediatrics, Graduate School of Medicine, The University of Tokyo
- Kenichiro Miura
- Department of Pediatric Nephrology, Tokyo Women’s Medical University
- Shoichiro Kanda
- Department of Pediatrics, Graduate School of Medicine, The University of Tokyo
- Naoya Morisada
- Department of Pediatrics, Kobe University Graduate School of Medicine
- Rini Rossanti
- Department of Pediatrics, Kobe University Graduate School of Medicine
- Ming Juan Ye
- Department of Pediatrics, Kobe University Graduate School of Medicine
- Yoshimi Nozu
- Department of Pediatrics, Kobe University Graduate School of Medicine
- Masafumi Matsuo
- Department of Physical Therapy, Faculty of Rehabilitation, Kobe Gakuin University
- Hirofumi Kai
- Department of Molecular Medicine, Graduate School of Pharmaceutical Sciences, Kumamoto University
- Kazumoto Iijima
- Department of Pediatrics, Kobe University Graduate School of Medicine
- Kandai Nozu
- Department of Pediatrics, Kobe University Graduate School of Medicine
- DOI
- https://doi.org/10.1038/s41467-020-16605-x
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 8
Abstract
Alport syndrome is a progressive inherited nephritis accompanied by sensorineural loss of hearing and ocular abnormalities, for which there is currently no effective therapy. Here, the authors develop an exon-skipping therapy using an antisense-oligonucleotide and show it is effective in mouse models.
