Assessment of Adenosine Triphosphatase Phospholipid Transporting 8B1 (ATP8B1) Function in Patients With Cholestasis With ATP8B1 Deficiency by Using Peripheral Blood Monocyte-Derived Macrophages.
Mizutani A, Sabu Y, Naoi S, Ito S, Nakano S, Minowa K, Mizuochi T, Ito K, Abukawa D, Kaji S, Sasaki M, Muroya K, Azuma Y, Watanabe S, Oya Y, Inomata Y, Fukuda A, Kasahara M, Inui A, Takikawa H, Kusuhara H, Bessho K, Suzuki M, Togawa T, Hayashi H.
Deficiency of uncoupler-stimulated adenosine triphosphatase activity in tightly coupled hepatoma mitochondria.
Pedersen PL, Eska T, Morris HP, Catterall WA.
Proc Natl Acad Sci U S A. 1971 May;68(5):1079-82. doi: 10.1073/pnas.68.5.1079.
PMID:4325001
A novel missense variant in ATP11C is associated with reduced red blood cell phosphatidylserine flippase activity and mild hereditary hemolytic anemia.
van Dijk MJ, van Oirschot BA, Harrison AN, Recktenwald SM, Qiao M, Stommen A, Cloos AS, Vanderroost J, Terrasi R, Dey K, Bos J, Rab MAE, Bogdanova A, Minetti G, Muccioli GG, Tyteca D, Egée S, Kaestner L, Molday RS, van Beers EJ, van Wijk R.