Ontology highlight
ABSTRACT:
SUBMITTER: Segawa K
PROVIDER: S-EPMC8439608 | biostudies-literature | 2021 Sep
REPOSITORIES: biostudies-literature
Segawa Katsumori K Kikuchi Atsuo A Noji Tomoyasu T Sugiura Yuki Y Hiraga Keita K Suzuki Chigure C Haginoya Kazuhiro K Kobayashi Yasuko Y Matsunaga Mitsuhiro M Ochiai Yuki Y Yamada Kyoko K Nishimura Takuo T Iwasawa Shinya S Shoji Wataru W Sugihara Fuminori F Nishino Kohei K Kosako Hidetaka H Ikawa Masahito M Uchiyama Yasuo Y Suematsu Makoto M Ishikita Hiroshi H Kure Shigeo S Nagata Shigekazu S
The Journal of clinical investigation 20210901 18
ATP11A translocates phosphatidylserine (PtdSer), but not phosphatidylcholine (PtdCho), from the outer to the inner leaflet of plasma membranes, thereby maintaining the asymmetric distribution of PtdSer. Here, we detected a de novo heterozygous point mutation of ATP11A in a patient with developmental delays and neurological deterioration. Mice carrying the corresponding mutation died perinatally of neurological disorders. This mutation caused an amino acid substitution (Q84E) in the first transme ...[more]