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Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration (2005)

Yang,
Z.,
Alvarez,
B.V.,
Chakarova,
C.,
Jiang,
L.,
Karan,
G.,
Frederick,
J.M.,
Zhao,
Y.,
Sauve,
Y.,
Li,
X.,
Zrenner,
E.,
Wissinger,
B.,
Hollander,
A.I.,
Katz,
B.,
Baehr,
W.,
Cremers,
F.P.,
Casey,
J.R.,
Bhattacharya,
S.S.,
Zhang,
K.

Abstract

Retina and retinal pigment epithelium (RPE) belong to the metabolically most active tissues in the human body. Efficient removal of acid load from retina and RPE is a critical function mediated by the choriocapillaris. However, the mechanism by which pH homeostasis is maintained is largely unknown. Here, we show that a functional complex of carbonic anhydrase 4 (CA4) and Na+/bicarbonate co-transporter 1 (NBC1) is specifically expressed in the choriocapillaris and that missense mutations in CA4 linked to autosomal dominant rod-cone dystrophy disrupt NBC1-mediated

Publication details

Download	http://www.ucl.ac.uk/research/publications/?action=search&pubid=109583
Repository	UCL Research Publications Index (MyOPIA) (United Kingdom)
Keywords	Carbonic Anhydrase IV, Epithelium, Female, genetics, Humans, Hydrogen-Ion Concentration, Male, metabolism, Mutation, MUTATIONS, Pedigree, photoreceptor, Photoreceptors, Research Support,Non-U.S.Gov't, Research Support,U.S.Gov't,P.H.S., Retina, retinal pigment epithelium, Sodium-Bicarbonate Symporters
Type	JOUR
Relation	255-265, 2, 14