GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone–rod dystrophy but not for stationary night blindness

Mutations in the GUCY2D gene coding for the dimeric human retinal membrane guanylyl cyclase (RetGC) isozyme RetGC1 cause various forms of blindness, ranging from rod dysfunction to rod and cone degeneration. We tested how the mutations causing recessive congenital stationary night blindness (CSNB),...

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Detalles Bibliográficos
Autores principales: Peshenko, Igor V., Olshevskaya, Elena V., Dizhoor, Alexander M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2021
Materias:
Enzymology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7939455/
https://www.ncbi.nlm.nih.gov/pubmed/33109612
http://dx.doi.org/10.1074/jbc.RA120.015553

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7939455/
https://www.ncbi.nlm.nih.gov/pubmed/33109612
http://dx.doi.org/10.1074/jbc.RA120.015553

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