Now showing items 1-5 of 5

    • Conserved Genes Act as Modifiers of Invertebrate SMN Loss of Function Defects 

      Dimitriadi, Maria; Sleigh, James N.; Chang, Howard C.; Kalloo, Geetika; Harris, Jevede; Barsby, Tom; Walsh, Melissa B.; Satterlee, John S.; Li, Chris; Hart, Anne C.; Walker, Amy K.; Sen, Anindya Kumar; Van Vactor, David L.; Artavanis-Tsakonas, Spiro (Public Library of Science, 2010)
      Spinal Muscular Atrophy (SMA) is caused by diminished function of the Survival of Motor Neuron (SMN) protein, but the molecular pathways critical for SMA pathology remain elusive. We have used genetic approaches in ...
    • Genetic Circuitry of Survival Motor Neuron, the Gene Underlying Spinal Muscular Atrophy 

      Sen, Anindya; Dimlich, Douglas; Guruharsha, K. G.; Kankel, Mark William; Hori, Kazuya; Yokokura, Takakazu; Brachat, Sophie; Richardson, Delwood; Loureiro, Joseph; Sivasankaran, Rajeev; Curtis, Daniel; Davidow, Lance Steven; Rubin, Lee; Hart, Anne C.; Van Vactor, David L.; Artavanis-Tsakonas, Spyros (Proceedings of the National Academy of Sciences, 2013)
      The clinical severity of the neurodegenerative disorder spinal muscular atrophy (SMA) is dependent on the levels of functional Survival Motor Neuron (SMN) protein. Consequently, current strategies for developing treatments ...
    • Modeling Spinal Muscular Atrophy in Drosophila 

      Chang, Howard Chia-Hao; Yokokura, Takakazu; Mukherjee, Ashim; Kankel, Mark W.; Sridhar, Vasanthi; Hart, Anne C.; Dimlich, Douglas; Sen, Anindya Kumar; Fulga, Tudor Alexandru; Van Vactor, David L.; Artavanis-Tsakonas, Spiro (Public Library of Science, 2008)
      Spinal Muscular Atrophy (SMA), a recessive hereditary neurodegenerative disease in humans, has been linked to mutations in the survival motor neuron (SMN) gene. SMA patients display early onset lethality coupled with motor ...
    • Regulation of ligand-independent notch signal through intracellular trafficking 

      Hori, Kazuya; Sen, Anindya Kumar; Kirchhausen, Tomas Leopold; Artavanis-Tsakonas, Spyros (Landes Bioscience, 2012)
      Notch signaling is an evolutionarily conserved mechanism that defines a key cell fate control mechanism in metazoans. Notch signaling relies on the surface interaction between the Notch receptor and membrane bound ligands ...
    • Synergy Between the ESCRT-III Complex and Deltex Defines a Ligand-Independent Notch Signal 

      Hori, Kazuya; Sen, Anindya Kumar; Kirchhausen, Tomas Leopold; Artavanis-Tsakonas, Spyros (The Rockefeller University Press, 2011)
      The Notch signaling pathway defines a conserved mechanism that regulates cell fate decisions in metazoans. Signaling is modulated by a broad and multifaceted genetic circuitry, including members of the endocytic machinery. ...