Article
Prph2 disease mutations lead to structural and functional defects in the RPE.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 May 2022
Tebbe Lars, Sakthivel Haarthi, Makia Mustafa S, Kakakhel Mashal, Conley Shannon M, Al-Ubaidi Muayyad R, Naash Muna I
Abstract excerpt
Prph2 is a photoreceptor-specific tetraspanin with an essential role in the structure and function of photoreceptor outer segments. PRPH2 mutations cause a multitude of retinal diseases characterized by the degeneration of photoreceptors as well as defects in neighboring tissues such as the RPE. While extensive research has analyzed photoreceptors, less attention has been paid to these secondary defects. Here, we...
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