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      The tuberous sclerosis complex.

      1 ,
      Annals of the New York Academy of Sciences
      Wiley

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          Abstract

          Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that results from mutations in the TSC1 or TSC2 genes and is associated with hamartoma formation in multiple organ systems. The neurological manifestations of TSC are particularly challenging and include infantile spasms, intractable epilepsy, cognitive disabilities, and autism. Progress over the past 15 years has demonstrated that the TSC1 or TSC2 encoded proteins modulate cell function via the mTOR signaling cascade and serve as keystones in regulating cell growth and proliferation. The mTOR pathway provides an intersection for an intricate network of protein cascades that respond to cellular nutrition, energy levels, and growth-factor stimulation. In the brain, TSC1 and TSC2 have been implicated in cell body size, dendritic arborization, axonal outgrowth and targeting, neuronal migration, cortical lamination, and spine formation. Antagonism of the mTOR pathway with rapamycin and related compounds may provide new therapeutic options for TSC patients.

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          Author and article information

          Journal
          Ann N Y Acad Sci
          Annals of the New York Academy of Sciences
          Wiley
          1749-6632
          0077-8923
          Jan 2010
          : 1184
          Affiliations
          [1 ] Departments of Neurology and Neuroscience, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
          Article
          NYAS5117 NIHMS206091
          10.1111/j.1749-6632.2009.05117.x
          2892799
          20146692
          edbf06b0-84b2-4434-a44e-b064291fbb2c
          History

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