Identification of survival motor neuron as a transcriptional activator-binding protein.

@article{Strasswimmer1999IdentificationOS,
  title={Identification of survival motor neuron as a transcriptional activator-binding protein.},
  author={John M. Strasswimmer and Christian L. Lorson and David Breiding and Jason J-X Chen and Thanh Loan Le and Arthur H. M. Burghes and Elliot J Androphy},
  journal={Human molecular genetics},
  year={1999},
  volume={8 7},
  pages={1219-26}
}
Spinal muscular atrophy (SMA) is an inherited neuro-muscular disease characterized by specific degeneration of spinal cord anterior horn cells and subsequent muscle atrophy. Survival motor neuron ( SMN ), located on chromosome 5q13, is the SMA-determining gene. In the nucleus, SMN is present in large foci called gems, the function of which is not yet known, while cytoplasmic SMN has been implicated in snRNP biogenesis. In SMA patients, SMN protein levels and the number of gems generally… CONTINUE READING

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