New information on molecular biology of KRas protein

New information on molecular biology of KRas protein KRas is one of the usual suspects in cancer. It is a protein that is mutated in 30% of human tumors and has been implicated in the regulation of many cell signalling pathways. For this reason, it is one of the main focuses of attention of international […]

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6 Treatments down…

We had Hannah’s 6th Cerezyme treatment today.  It was a bit rougher than usual because it took two attempts at an IV.  After the first attempt, she was bleeding like crazy.  Of course, my first thought was “damn, her platelets must not be up yet…is it not working?”  She was very restless during the first […]

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The effects of pH and iminosugar pharmacological chaperones on lysosomal glycosidase structure and stability.

The effects of pH and iminosugar pharmacological chaperones on lysosomal glycosidase structure and stability. Lieberman RL, D’Aquino JA, Ringe D, Petsko GA. Human lysosomal enzymes acid-beta-glucosidase (GCase) and acid-alpha-galactosidase (alpha-Gal A) hydrolyze, respectively, the sphingolipids glucosyl- and globotriaosyl- ceramide, and mutations in these enzymes lead to the lipid metabolism disorders Gaucher and Fabry disease. We […]

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Take Action for Me: Please send this letter to your reps!

Remember back in January when I wrote THIS LETTER in support of the Ryan Dant bill?  Well, the HR number has changed, but the importance of this bill has not. Please, please, please just take a moment to send this letter off either via snail mail or email to your local congress and senators.  It […]

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Hannah’s Summary Update 4/19/09

Since I have so many visitors that want to follow Hannah’s journey with us but aren’t into the “blogging” thing since I do tend to post A LOT, I created an “update” page (you can also see it in red on the right as well as on the dropdown menu under “Meet Hannah”).  I’ll be […]

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Hannah’s ECI DAYC (Developmental Assessment of Young Children)

Here are the results for Hannah’s Developmental Assessment of Young Children Summary from Early Childhood Intervention done yesterday.  Basically, they “test” her on certain behaviors, abilities, etc., and they asked me a lot of questions on what she can/can’t do at this age.   Cognitive Age Equivalent – 8 months (at 4-month assessment, she was assessed at […]

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