A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylc...
A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylcholine flipping in plasma membranes
About this item
Full title
Author / Creator
Segawa, Katsumori , Kikuchi, Atsuo , Noji, Tomoyasu , Sugiura, Yuki , Hiraga, Keita , Suzuki, Chigure , Haginoya, Kazuhiro , Kobayashi, Yasuko , Matsunaga, Mitsuhiro , Ochiai, Yuki , Yamada, Kyoko , Nishimura, Takuo , Iwasawa, Shinya , Shoji, Wataru , Sugihara, Fuminori , Nishino, Kohei , Kosako, Hidetaka , Ikawa, Masahito , Uchiyama, Yasuo , Suematsu, Makoto , Ishikita, Hiroshi , Kure, Shigeo and Nagata, Shigekazu
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
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 carry...
Alternative Titles
Full title
A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylcholine flipping in plasma membranes
Authors, Artists and Contributors
Author / Creator
Kikuchi, Atsuo
Noji, Tomoyasu
Sugiura, Yuki
Hiraga, Keita
Suzuki, Chigure
Haginoya, Kazuhiro
Kobayashi, Yasuko
Matsunaga, Mitsuhiro
Ochiai, Yuki
Yamada, Kyoko
Nishimura, Takuo
Iwasawa, Shinya
Shoji, Wataru
Sugihara, Fuminori
Nishino, Kohei
Kosako, Hidetaka
Ikawa, Masahito
Uchiyama, Yasuo
Suematsu, Makoto
Ishikita, Hiroshi
Kure, Shigeo
Nagata, Shigekazu
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8439608
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8439608
Other Identifiers
ISSN
1558-8238,0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI148005
