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Proteins Deep Inside The Nucleus Hold Clues For Two Diseases

Date:
September 19, 1998
Source:
University Of Pennsylvania Medical Center
Summary:
For the past decade the lab of Gideon Dreyfuss, PhD, the Isaac Norris professor of biochemistry and biophysics at Penn and a Howard Hughes Medical Institute investigator, has centered on the mechanisms of how the genetic code is translated, via messenger RNA (mRNA), to correctly construct proteins that orchestrate the human body. This very basic work has turned out to have profound clinical implications for understanding two genetic conditions -- fragile X syndrome, the most common cause of hereditary mental retardation; and spinal muscular atrophy (SMA), the leading genetic cause of infant death.

For the past decade the lab of Gideon Dreyfuss, PhD, the Isaac Norris professor of biochemistry and biophysics at Penn and a Howard Hughes Medical Institute investigator, has centered on the mechanisms of how the genetic code is translated, via messenger RNA (mRNA), to correctly construct proteins that orchestrate the human body. This very basic work has turned out to have profound clinical implications for understanding two genetic conditions -- fragile X syndrome, the most common cause of hereditary mental retardation; and spinal muscular atrophy (SMA), the leading genetic cause of infant death. Specifically, the Penn group has focused on a group of 20 RNA-binding proteins called hnRNPs, which are important in the formation of mRNA.


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The above story is based on materials provided by University Of Pennsylvania Medical Center. Note: Materials may be edited for content and length.


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University Of Pennsylvania Medical Center. "Proteins Deep Inside The Nucleus Hold Clues For Two Diseases." ScienceDaily. ScienceDaily, 19 September 1998. <www.sciencedaily.com/releases/1998/09/980919123804.htm>.
University Of Pennsylvania Medical Center. (1998, September 19). Proteins Deep Inside The Nucleus Hold Clues For Two Diseases. ScienceDaily. Retrieved April 16, 2014 from www.sciencedaily.com/releases/1998/09/980919123804.htm
University Of Pennsylvania Medical Center. "Proteins Deep Inside The Nucleus Hold Clues For Two Diseases." ScienceDaily. www.sciencedaily.com/releases/1998/09/980919123804.htm (accessed April 16, 2014).

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