Ontology highlight
ABSTRACT:
SUBMITTER: Stapelbroek JM
PROVIDER: S-EPMC2700994 | biostudies-literature | 2009 Jun
REPOSITORIES: biostudies-literature
Stapelbroek Janneke M JM Peters Theo A TA van Beurden Denis H A DH Curfs Jo H A J JH Joosten Anneke A Beynon Andy J AJ van Leeuwen Bibian M BM van der Velden Lieke M LM Bull Laura L Oude Elferink Ronald P RP van Zanten Bert A BA Klomp Leo W J LW Houwen Roderick H J RH
Proceedings of the National Academy of Sciences of the United States of America 20090528 24
ATP8B1 deficiency is caused by autosomal recessive mutations in ATP8B1, which encodes the putative phospatidylserine flippase ATP8B1 (formerly called FIC1). ATP8B1 deficiency is primarily characterized by cholestasis, but extrahepatic symptoms are also found. Because patients sometimes report reduced hearing capability, we investigated the role of ATP8B1 in auditory function. Here we show that ATP8B1/Atp8b1 deficiency, both in patients and in Atp8b1(G308V/G308V) mutant mice, causes hearing loss, ...[more]