The DOI matches its Crossref record; 23 of the 23 references it cites were found in a registry or an index.
The vitelliform macular dystrophy protein defines a new family of chloride channels
Open accessAbstract
Vitelliform macular dystrophy (VMD/Best disease; MIM*153700) is an early-onset autosomal dominant disorder in which accumulation of lipofuscin-like material within and beneath the retinal pigment epithelium is associated with a progressive loss of central vision. Bestrophin, the protein product of the VMD gene, has four predicted transmembrane domains. There are multiple bestrophin homologues in the human, Drosophila , and Caenorhabditis elegans genomes, but no function has previously been ascribed to these proteins, and they show no detectable homology to other proteins of known function. Using heterologous expression, we show here that human, Drosophila , and C. elegans bestrophins form oligomeric chloride channels, and that human bestrophin is sensitive to intracellular calcium. Each of 15 missense mutations asscociated with VMD greatly reduces or abolishes the membrane current. Four of these mutant bestrophins were coexpressed with the wild type and each dominantly inhibited the wild-type membrane current, consistent with the dominant nature of the disease. These experiments establish the existence of a new chloride channel family and VMD as a channelopathy.
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Cites
Identification of the gene responsible for Best macular dystrophy
Petrukhin, K., Koisti, M. J., Bakall, B., Li, W., Xie, G., Marknell, T., Sandgren, O., Forsman, K., Holmgren, G., Andreasson, S., et al. (1998) · Nature Genetics · doi:10.1038/915 · Cited by 689
[8] Substituted-cysteine accessibility method
Karlin, A., & Akabas, M. H. (1998) · Methods in Enzymology · doi:10.1016/s0076-6879(98)93011-7 · Cited by 585
ClC-5 Cl--channel disruption impairs endocytosis in a mouse model for Dent's disease
Piwon, N., Günther, W., Schwake, M., Bösl, M. R., & Jentsch, T. J. (2000) · Nature · doi:10.1038/35042597 · Cited by 551
CLONED POTASSIUM CHANNELS FROM EUKARYOTES AND PROKARYOTES
Jan, L. Y., & Jan, Y. N. (1997) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.20.1.91 · Cited by 503
Marmorstein, A. D., Marmorstein, L. Y., Rayborn, M., Wang, X., Hollyfield, J. G., & Petrukhin, K. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.220402097 · Cited by 457
Marquardt, A. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.9.1517 · Cited by 362
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Self-citationWang, S. S. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.20.2937 · Cited by 312
The 220-kDa Rim Protein of Retinal Rod Outer Segments Is a Member of the ABC Transporter Superfamily
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Cited by
Initial sequencing and comparative analysis of the mouse genome
Mouse Genome Sequencing Consortium (2002) · Nature · doi:10.1038/nature01262 · Cited by 7,187
The Retinal Pigment Epithelium in Visual Function
Strauss, O. (2005) · Physiological Reviews · doi:10.1152/physrev.00021.2004 · Cited by 2,828
RPE lipofuscin and its role in retinal pathobiology
Sparrow, J. R., & Boulton, M. (2005) · Experimental Eye Research · doi:10.1016/j.exer.2005.01.007 · Cited by 644
FUNDUS AUTOFLUORESCENCE IMAGING: Review and Perspectives
SCHMITZ-VALCKENBERG, S., HOLZ, F. G., BIRD, A. C., & SPAIDE, R. F. (2008) · Retina · doi:10.1097/iae.0b013e318164a907 · Cited by 537
Chloride channels as drug targets
Verkman, A. S., & Galietta, L. J. V. (2009) · Nature Reviews Drug Discovery · doi:10.1038/nrd2780 · Cited by 469
Metadata
- Authors
- Sun, H., Tsunenari, T., Yau, K.-W., & Nathans, J.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2002-03-19
- Volume
- 99
- Issue
- 6
- Pages
- 4008-4013
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W1974626059
- Cited by
- 472
- References
- 23
- FWCI
- 6.91
- Type
- journal article
- Language
- en
- Open access
- green
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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