De Novo Missense Variations of ATP8B2 Impair Its Phosphatidylcholine Flippase Activity

Author:

Takatsu Hiroyuki1,Nishimura Narumi1,Kosugi Yusuke12,Ogawa Haruo3,Nakayama Kazuhisa1,Colin Estelle4,Platzer Konrad5,Abou Jamra Rami5,Redler Silke6,Prouteau Clément4,Ziegler Alban4,Shin Hye-Won1ORCID

Affiliation:

1. Department of Physiological Chemistry, Graduate School of Pharmaceutical Sciences, Kyoto University, Kyoto, Japan

2. Division of Systems Virology, Department of Microbiology and Immunology, The Institute of Medical Science, The University of Tokyo, Tokyo, Japan

3. Department of Structural Biology, Graduate School of Pharmaceutical Sciences, Kyoto University, Kyoto, Japan

4. Department of Medical Genetics, Angers University Hospital, Angers, France

5. Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

6. Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany

Funder

JSPS KAKENHI

Takeda Science Foundation

Uehara Memorial Foundation

Mizutani Glycoscience Foundation

ONO Medical Research Foundation

Publisher

Informa UK Limited

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