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Items: 3

1.
Assessment of ATP8B1 Deficiency in Pediatric Patients With Cholestasis Using Peripheral Blood Monocyte-Derived Macrophages
Hisamitsu Hayashi, Sotaro Naoi, Takao Togawa, Yu Hirose, Hiroki Kondou, Yasuhiro Hasegawa, Daiki Abukawa, Mika Sasaki, Koji Muroya, Satoshi Watanabe, Satoshi Nakano, Kei Minowa, Ayano Inui, Akinari Fukuda, Mureo Kasahara, Hironori Nagasaka, Kazuhiko Bessho, Mitsuyoshi Suzuki, Hiroyuki Kusuhara
EBioMedicine. 2018 Jan; 27: 187–199. Published online 2017 Oct 7. doi: 10.1016/j.ebiom.2017.10.007
PMCID:
PMC5828058
AbstractArticlePDF–2.0M
2.
ABCB4 missense mutations D243A, K435T, G535D, I490T, R545C, and S978P significantly impair the lipid floppase and likely predispose to secondary pathologies in the human population
Edward J. Andress, Michael Nicolaou, Farrell McGeoghan, Kenneth J. Linton
Cell Mol Life Sci. 2017 Jul; 74(13): 2513–2524. Published online 2017 Feb 20. doi: 10.1007/s00018-017-2472-6
PMCID:
PMC5487885
AbstractArticlePDF–2.6M
3.
ATP8B1 is essential for maintaining normal hearing
Janneke M. Stapelbroek, Theo A. Peters, Denis H. A. van Beurden, Jo H. A. J. Curfs, Anneke Joosten, Andy J. Beynon, Bibian M. van Leeuwen, Lieke M. van der Velden, Laura Bull, Ronald P. Oude Elferink, Bert A. van Zanten, Leo W. J. Klomp, Roderick H. J. Houwen
Proc Natl Acad Sci U S A. 2009 Jun 16; 106(24): 9709–9714. Published online 2009 May 28. doi: 10.1073/pnas.0807919106
PMCID:
PMC2700994
AbstractArticlePDF–1.3M

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