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ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice

التفاصيل البيبلوغرافية
العنوان: ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice
المؤلفون: 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
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)
بيانات النشر: Nature Portfolio, 2021.
سنة النشر: 2021
المجموعة: LCC:Science
مصطلحات موضوعية: Science
الوصف: 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.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2041-1723
Relation: https://doaj.org/toc/2041-1723
DOI: 10.1038/s41467-021-22389-5
URL الوصول: https://doaj.org/article/7bc108343b5a4de8a62d1fd709f2183f
رقم الأكسشن: edsdoj.7bc108343b5a4de8a62d1fd709f2183f
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:20411723
DOI:10.1038/s41467-021-22389-5