Abstract
Mutations in the BEST1 gene lead to a variety of retinal degenerations. In the eye, the BEST1 gene product bestrophin-1 is expressed in the retinal pigment epithelium (RPE). It is likely that retinal degenerations are caused by a change of the RPE function. Recent publications indicated that endogenously expressed bestrophin-1 function as a cytosolic Cl channel in Ca2+ stores of the endoplasmic reticulum influences intracellular Ca2+ signaling. Possible cytosolic function of BEST1 could help to understand discrepancies between the bestrophin-1 function in overexpression systems and in animal models as well as to develop new ways to understand BEST1-associated retinal degenerations.
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Strauß, O., Neussert, R., Müller, C., Milenkovic, V.M. (2012). A Potential Cytosolic Function of Bestrophin-1. In: LaVail, M., Ash, J., Anderson, R., Hollyfield, J., Grimm, C. (eds) Retinal Degenerative Diseases. Advances in Experimental Medicine and Biology, vol 723. Springer, Boston, MA. https://doi.org/10.1007/978-1-4614-0631-0_77
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DOI: https://doi.org/10.1007/978-1-4614-0631-0_77
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