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

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

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,...

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Autores principales: 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
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/7bc108343b5a4de8a62d1fd709f2183f
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spelling oai:doaj.org-article:7bc108343b5a4de8a62d1fd709f2183f2021-12-02T14:21:15ZATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice10.1038/s41467-021-22389-52041-1723https://doaj.org/article/7bc108343b5a4de8a62d1fd709f2183f2021-04-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-22389-5https://doaj.org/toc/2041-1723A 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.Kazushi AotoMitsuhiro KatoTenpei AkitaMitsuko NakashimaHiroki MutohNoriyuki AkasakaJun TohyamaYoshiko NomuraKyoko HoshinoYasuhiko AgoRyuta TanakaOrna EpsteinRevital Ben-HaimEli HeymanTakehiro MiyazakiHazrat BelalShuji TakabayashiChihiro OhbaAtsushi TakataTakeshi MizuguchiSatoko MiyatakeNoriko MiyakeAtsuo FukudaNaomichi MatsumotoHirotomo SaitsuNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-17 (2021)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
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
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice
description 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.
format article
author 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
author_facet 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
author_sort Kazushi Aoto
title ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice
title_short ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice
title_full ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice
title_fullStr ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice
title_full_unstemmed ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice
title_sort atp6v0a1 encoding the a1-subunit of the v0 domain of vacuolar h+-atpases is essential for brain development in humans and mice
publisher Nature Portfolio
publishDate 2021
url https://doaj.org/article/7bc108343b5a4de8a62d1fd709f2183f
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