Biochemical Defects in Retina-specific Human ATP Binding Cassette Transporter Nucleotide Binding Domain 1 Mutants Associated with Macular Degeneration

The retina-specific human ABC transporter (ABCR) functions in the retinal transport system and has been implicated in several inherited visual diseases, including Stargardt disease, fundus flavimaculatus, cone-rod dystrophy, and age-related macular degeneration. We have previously described a genera...

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Veröffentlicht in:	The Journal of biological chemistry 2002-06, Vol.277 (24), p.21759-21767
Hauptverfasser:	Suárez, Tatiana, Biswas, Subhasis B, Biswas, Esther E
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenosine Triphosphatases - chemistry Adenosine Triphosphate - metabolism Amino Acid Sequence Anisotropy Arginine - chemistry ATP-Binding Cassette Transporters - chemistry ATP-Binding Cassette Transporters - metabolism Cloning, Molecular Databases as Topic Dose-Response Relationship, Drug Electrophoresis, Polyacrylamide Gel Escherichia coli - metabolism fluorescence anisotropy Glycine - chemistry Humans Hydrolysis Kinetics macular degeneration Macular Degeneration - metabolism Models, Molecular Molecular Sequence Data Mutagenesis, Site-Directed Mutation NBD1 protein Phenotype Proline - chemistry Protein Binding Protein Structure, Tertiary Pyrophosphatases - chemistry Recombinant Proteins - chemistry Recombinant Proteins - metabolism Retina - metabolism ribonucleotidase Sequence Homology, Amino Acid Spectrometry, Fluorescence Thermodynamics Time Factors
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