Nature Communications (Apr 2021)
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice
- Kazushi Aoto,
- Mitsuhiro Kato,
- Tenpei Akita,
- Mitsuko Nakashima,
- Hiroki Mutoh,
- Noriyuki Akasaka,
- Jun Tohyama,
- Yoshiko Nomura,
- Kyoko Hoshino,
- Yasuhiko Ago,
- Ryuta Tanaka,
- Orna Epstein,
- Revital Ben-Haim,
- Eli Heyman,
- Takehiro Miyazaki,
- Hazrat Belal,
- Shuji Takabayashi,
- Chihiro Ohba,
- Atsushi Takata,
- Takeshi Mizuguchi,
- Satoko Miyatake,
- Noriko Miyake,
- Atsuo Fukuda,
- Naomichi Matsumoto,
- Hirotomo Saitsu
Affiliations
- Kazushi Aoto
- Department of Biochemistry, Hamamatsu University School of Medicine
- Mitsuhiro Kato
- Department of Pediatrics, Showa University School of Medicine
- Tenpei Akita
- Department of Neurophysiology, Hamamatsu University School of Medicine
- Mitsuko Nakashima
- Department of Biochemistry, Hamamatsu University School of Medicine
- Hiroki Mutoh
- Department of Biochemistry, Hamamatsu University School of Medicine
- Noriyuki Akasaka
- Department of Child Neurology, National Hospital Organization Nishiniigata Chuo Hospital
- Jun Tohyama
- Department of Child Neurology, National Hospital Organization Nishiniigata Chuo Hospital
- Yoshiko Nomura
- Segawa Neurological Clinic for Children
- Kyoko Hoshino
- Segawa Neurological Clinic for Children
- Yasuhiko Ago
- Department of Neonatology, Ibaraki Children’s Hospital
- Ryuta Tanaka
- Ibaraki Pediatric Education and Training Station, University of Tsukuba
- Orna Epstein
- Pediatric Neurology and Development Center, Shamir Medical Center, Tzrifin
- Revital Ben-Haim
- Pediatric Neurology and Development Center, Shamir Medical Center, Tzrifin
- Eli Heyman
- Pediatric Neurology and Development Center, Shamir Medical Center, Tzrifin
- Takehiro Miyazaki
- Department of Biochemistry, Hamamatsu University School of Medicine
- Hazrat Belal
- Department of Biochemistry, Hamamatsu University School of Medicine
- Shuji Takabayashi
- Laboratory Animal Facilities & Services, Preeminent Medical Photonics Education & Research Center, Hamamatsu University School of Medicine
- Chihiro Ohba
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Atsushi Takata
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Takeshi Mizuguchi
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Satoko Miyatake
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Noriko Miyake
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Atsuo Fukuda
- Department of Neurophysiology, Hamamatsu University School of Medicine
- Naomichi Matsumoto
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Hirotomo Saitsu
- Department of Biochemistry, Hamamatsu University School of Medicine
- DOI
- https://doi.org/10.1038/s41467-021-22389-5
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 17
Abstract
A member of the vacuolar H+-ATPase family, ATP6V0A1 is involved in lysosomal activity. Here, the authors report that ATP6V0A1 variants identified in individuals with developmental and epileptic encephalopathy are associated with impairment of lysosomal acidification, autophagy and mTORC1 signaling, suggesting an essential role of ATP6V0A1 in brain development.
