Complete Exon–Intron Structure of the Retina-Specific ATP Binding Transporter Gene (ABCR) Allows the Identification of Novel Mutations Underlying Stargardt Disease

Genomics ◽  
1998 ◽  
Vol 48 (1) ◽  
pp. 139-142 ◽  
Author(s):  
S. Gerber ◽  
J.M. Rozet ◽  
T.J.R. van de Pol ◽  
C.B. Hoyng ◽  
A. Munnich ◽  
...  
Keyword(s):  
Atp Binding ◽  
Transporter Gene ◽  
Novel Mutations ◽  
Stargardt Disease ◽  
Intron Structure

scholarly journals Genotype/Phenotype Analysis of a Photoreceptor-Specific ATP-Binding Cassette Transporter Gene, ABCR, in Stargardt Disease

1999 ◽  
Vol 64 (2) ◽  
pp. 422-434 ◽  
Author(s):  
Richard Alan Lewis ◽  
Noah F. Shroyer ◽  
Nanda Singh ◽  
Rando Allikmets ◽  
Amy Hutchinson ◽  
...  
Keyword(s):  
Atp Binding ◽  
Transporter Gene ◽  
Stargardt Disease ◽  
Atp Binding Cassette Transporter ◽  
Phenotype Analysis ◽  
Atp Binding Cassette

Stargardt Disease with Preserved Central Vision: identification of a putative novel mutation in ATP-binding cassette transporter gene

2011 ◽  
Vol 89 (3) ◽  
pp. e297-e298 ◽  
Author(s):  
Kaoru Fujinami ◽  
Masakazu Akahori ◽  
Masaki Fukui ◽  
Kazushige Tsunoda ◽  
Takeshi Iwata ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Atp Binding ◽  
Transporter Gene ◽  
Central Vision ◽  
Stargardt Disease ◽  
Atp Binding Cassette Transporter ◽  
Atp Binding Cassette

scholarly journals Novel mutations in the gene encoding ATP-binding cassette 1 in four Tangier disease kindreds

2000 ◽  
Vol 41 (3) ◽  
pp. 433-441
Author(s):  
Margaret E. Brousseau ◽  
Ernst J. Schaefer ◽  
Josee Dupuis ◽  
Brenda Eustace ◽  
Paul Van Eerdewegh ◽  
...  
Keyword(s):  
Atp Binding ◽  
Tangier Disease ◽  
Novel Mutations ◽  
Gene Encoding ◽  
Atp Binding Cassette

scholarly journals Role of ATP-Binding-Cassette Transporter Genes in High-Frequency Acquisition of Resistance to Azole Antifungals in Candida glabrata

2001 ◽  
Vol 45 (4) ◽  
pp. 1174-1183 ◽  
Author(s):  
Dominique Sanglard ◽  
Francoise Ischer ◽  
Jacques Bille
Keyword(s):  
Abc Transporter ◽  
High Frequency ◽  
Candida Glabrata ◽  
Antifungal Agents ◽  
Clinical Isolates ◽  
Azole Resistance ◽  
Atp Binding ◽  
Transporter Gene ◽  
Atp Binding Cassette

ABSTRACT Candida glabrata has been often isolated from AIDS patients with oropharyngeal candidiasis treated with azole antifungal agents, especially fluconazole. We recently showed that the ATP-binding-cassette (ABC) transporter gene CgCDR1 was upregulated in C. glabrata clinical isolates resistant to azole antifungal agents (D. Sanglard, F. Ischer, D. Calabrese, P. A. Majcherczyk, and J. Bille, Antimicrob. Agents Chemother. 43:2753–2765, 1999). Deletion of CgCDR1 in C. glabrata rendered the null mutant hypersusceptible to azole derivatives and showed the importance of this gene in mediating azole resistance. We observed that wild-type C. glabrata exposed to fluconazole in a medium containing the drug at 50 μg/ml developed resistance to this agent and other azoles at a surprisingly high frequency (2 × 10−4 to 4 × 10−4). We show here that this high-frequency azole resistance (HFAR) acquired in vitro was due, at least in part, to the upregulation ofCgCDR1. The CgCDR1 deletion mutant DSY1041 could still develop HFAR but in a medium containing fluconazole at 5 μg/ml. In the HFAR strain derived from DSY1041, a distinct ABC transporter gene similar to CgCDR1, calledCgCDR2, was upregulated. This gene was slightly expressed in clinical isolates but was upregulated in strains with the HFAR phenotype. Deletion of both CgCDR1 and CgCDR2suppressed the development of HFAR in a medium containing fluconazole at 5 μg/ml, showing that both genes are important mediators of resistance to azole derivatives in C. glabrata. We also show here that the HFAR phenomenon was linked to the loss of mitochondria in C. glabrata. Mitochondrial loss could be obtained by treatment with ethidium bromide and resulted in acquisition of resistance to azole derivatives without previous exposure to these agents. Azole resistance obtained in vitro by HFAR or by agents stimulating mitochondrial loss was at least linked to the upregulation of both CgCDR1 and CgCDR2.

Expression of the ATP-Binding Cassette Transporter Gene ABCG1 (ABC8) in Tangier Disease

2001 ◽  
Vol 283 (4) ◽  
pp. 821-830 ◽  
Author(s):  
Stefan Lorkowski ◽  
Mario Kratz ◽  
Claudia Wenner ◽  
Roland Schmidt ◽  
Benedikt Weitkamp ◽  
...  
Keyword(s):  
Atp Binding ◽  
Transporter Gene ◽  
Tangier Disease ◽  
Atp Binding Cassette Transporter ◽  
Atp Binding Cassette
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