Thanks for a great quarter, everyone! Even if you don’t fill in the poll, could you please take a moment and give any and all feedback you have for the course. Please comment below. Your feedback helps us to improve this course over the years.

Some things to think about:

How difficult was this course?
How did you like the website for this course?
What would you have added to the course?
What would you change for this course, if you could change anything?
Would you have liked some type of group project?
Did you like how the discussions were run?

Thanks again, and good luck in the rest of your undergraduate careers and beyond!

Note: There is a poll embedded within this post, please visit the site to participate in this post's poll.

Some random points I wanted to clarify, help out with for your studying for the final are below. Comment on this page with additional questions, or continue e-mailing me (though, if you comment below, other students may be able to answer your questions faster than I get to them!)

SCI:
The spinal cord pathways (corticobulbar, etc., etc.) will be on the final. I had not stressed their importance in the review session because that was the one lecture I missed. Please study the spinal cord pathways, as this information should be on the final.
NOGO is inhibitory to axon regeneration.
IN-5 is a experimentally-made antibody that inhibits NOGO signaling .
NOGO mutant mice lacking NOGO function had a smaller phenotype than researchers were expecting.
On the Eph4a connection to CPGs
The old standby Wikipedia comes to our rescue again for the mTOR pathway

Chanelopathies/Epilepsy:
Kindling is the experimental induction of seizure: I was mistaken in telling some of you that it was the start of a natural seizure.
Regarding the tottering mouse and KCNA1:this paper could help your studying.

Myelination Disorders:
Know the sphingolipid metabolic pathways (as well as why certain steps are important, or how they go wrong in the disease state(s)) mentioned in several of the slides.
YARS is the tyrosyl-tRNA synthetase gene (“Y” is the abbreviation for “tyrosine”)
GARS is the glycyl-tRNA synthetase gene (“G” is the abbreviation for “glycine”)
CMT1 v. CMT2?
Just for fun, here are all the CMT variants on one nice list!
You should be able to compare and contrast the various myelination diseases: Dr. Goulding went over enough information on each to do so.

Prions:
As clarified on one slide, PrPc=Prpsen, and PrPsc=PrPres.

Lissencephaly:
For all things Miller Dieker, OMIM is your best bet.

Down Syndrome:
DYRK1A phosphorylates NFAT. DSCR1 dephosphorylates NFAT. The active form of NFAT is its non-phosphorylated form, which is able to translocate into the nucleus. Both DYRK1A and DSCR1 are increased (trisomic, etc.) in DS individuals, though as stressed in the lecture, there are complex interrelations in dosages of transcription factors (hence the elevation of both of these genes does NOT cancel each other out).

Williams Syndrome:
LIM kinase is one of the genes deleted in Williams Syndrome. Therefore, targets of this kinase (kinases phosphorylate things) in Williams Syndrome will be generally less phosphorylated. If some of you have good notes on this (esp. RE: conflin/confilin), could you post below and fill in the gaps?
There are several GTF genes that are in the Williams Syndrome deleted region.

Here is the key to the practice final.  Soon to come: the review page with some clarifications of questions that came up during last week’s review sessions.  Also, I hope to today start e-mailing out section grades individually.

Here are the slides from lecture 19 on Williams Syndrome.

Here is the practice final. The key will be posted in a few days.

Here is an article on Williams Syndrome to read before tomorrow’s lecture on Williams Syndrome.

Here are the slides from Dan’s lecture 18 on Down Syndrome.

Here are the slides from Dr. Pfaff’s lecture 17 on Lissencephaly.

Here are the slides for Lecture 16, on Prion diseases.

Also, the room for the final is the same room as lectures:

Thursday, March 19th from 9:30am-11:00am in Warren Lecture Hall 2111

Dr. Pfaff has provided background reading for tomorrow’s lecture.

Background for Lissencephaly:

Prusiner: Mad Cow
Prusiner: Prion Diseases
Kerjan: Lissencephaly Review
Neuroscience Text: Chapter 22 starting at page 562. Please look at Box 22G, Figure 22.7, and Figure 22.12