Inhibition of MAFB and PI3K/AKT Signaling for Hereditary FSGS with Multicentric Carpotarsal Osteolysis
Our findings demonstrate that the MCTO mutation results in MAFB protein accumulation and leads to the development of FSGS in mice. These findings identify the MAFB-PI3K/AKT pathway as a key mechanism underlying MCTO-associated nephropathy.
Authors
- Eugenia Kumaga (ORCID: https://orcid.org/0000-0001-5550-7309)
- Akihiro Kuno (ORCID: https://orcid.org/0000-0002-4674-6882)
- Maho Kanai (ORCID: https://orcid.org/0009-0008-3485-4027)
- Baoshuo Ning
- Ryojiro Tanaka (ORCID: https://orcid.org/0000-0002-7924-6876)
- Yuki Tsunakawa
- Shunya Sadaki
- Michito Hamada (ORCID: https://orcid.org/0000-0002-4737-1007)
- Naoki Morito (ORCID: https://orcid.org/0000-0002-1967-8191)
- Masafumi Muratani (ORCID: https://orcid.org/0000-0002-0276-8000)
- Mayuko OKI
- Kunihiro Yamagata (ORCID: https://orcid.org/0000-0002-7407-0410)
- Teppei Nishino (ORCID: https://orcid.org/0000-0003-2544-4639)
- Sayaka Fuseya (ORCID: https://orcid.org/0000-0002-0963-9949)
- Seiya Mizuno (ORCID: https://orcid.org/0000-0002-6740-5817)
- Yoshinori Sato (ORCID: https://orcid.org/0000-0002-0674-6634)
- HyoJung Jeon
- M. J. LeVine
- Toshiaki Usui
- Kei Gochi
- Yuri Inoue
- Satoru Takahashi
- Masahiro Shinohara
- Eiji Warabi
- Yuka Murakami
- Shun Ishibashi
- Natalia Gogoleva
- Takashi Kudo
Institutions
- Human Genome Sciences (United States) (US)
- Ibaraki Prefectural University of Health Sciences (JP)
- Children's Hospital of Philadelphia (US)
- University of Tsukuba (JP)
- Institute of Nephrology of the National Academy of Medical Sciences of Ukraine (UA)
- Max Planck Institute for Metabolism Research (DE)
- National Institute of Genomic Medicine (MX)
- Department of Embryology (US)
- Japanese Society of Physiological Anthropology (JP)
- Kobe Children's Hospital (JP)
- Integrative Medicine Institute (US)
- Comprehensive Cardiovascular (US)
- The Schwarzman Animal Medical Center (US)
- SHOWA Medical University Fujigaoka Hospital (JP)
- National Rehabilitation Center for Persons with Disabilities (JP)
- National Institute of Advanced Industrial Science and Technology (JP)
- The University of Tokyo (JP)
- University of Pennsylvania (US)
Publication Details
- Journal
- Journal of the American Society of Nephrology
- Published
- 2026-03-17
- DOI
- https://doi.org/10.1681/asn.0000001060
- Primary Topic
- Dermatological and Skeletal Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00