Snowflake Vitreoretinal Degeneration (SVD) Mutation R162W Provides New Insights into Kir7.1 Ion Channel Structure and Function

@inproceedings{Pattnaik2013SnowflakeVD,
  title={Snowflake Vitreoretinal Degeneration (SVD) Mutation R162W Provides New Insights into Kir7.1 Ion Channel Structure and Function},
  author={Bikash R. Pattnaik and Sara A Tokarz and Matti P. Asuma and Tyler Schroeder and Anil Sharma and Julie C. Mitchell and Albert O. Edwards and De-Ann M Pillers},
  booktitle={PloS one},
  year={2013}
}
Snowflake Vitreoretinal Degeneration (SVD) is associated with the R162W mutation of the Kir7.1 inwardly-rectifying potassium channel. Kir7.1 is found at the apical membrane of Retinal Pigment Epithelial (RPE) cells, adjacent to the photoreceptor neurons. The SVD phenotype ranges from RPE degeneration to an abnormal b-wave to a liquid vitreous. We sought to determine how this mutation alters the structure and function of the human Kir7.1 channel. In this study, we expressed a Kir7.1 construct… CONTINUE READING

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