Feb 6, Congenital Stationary Night Blindess. (Papers Due)

				Papers we will read for thursday, think about, and write about:

Paper #1 Not all mutations in Rhodopsin produce: Retinitis Pigmentosa.

Paper #2 What is NYX anyway? How would you figure out what this protein is doing mechanistically?

Does this make sense? An L-type calcium channel involved in stationary night blindness? What do L-type calcium channels do?

				Papers you might enjoy reading

The original paper from the Oprian Lab studying the mechanism of the G90D mutation in Rhodopsin. This is a fantastic paper, but set aside an afternoon if you want to really understand this one.

this is another NYX paper

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

Carsten M. Pusch1*, Christina Zeitz2*, Oliver Brandau3*, Katrin Pesch1, Helene Achatz3, Silke Feil2, Curt Scharfe3, Johannes Maurer1, Felix K. Jacobi4, Alfred Pinckers5, Sten Andreasson6, Alison Hardcastle7, Bernd Wissinger1, Wolfgang Berger2& Alfons Meindl3 *These authors contributed equally to this work.

Really interesting, creative idea here.... For those of you interested in Biochemistry, this is worth reading!

The NYX story, or nyctalopin, comes full circle with mouse model.