Candidate Proteins, Metabolites and Transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study

@inproceedings{Finkel2012CandidatePM,
  title={Candidate Proteins, Metabolites and Transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study},
  author={Richard S. Finkel and Thomas O. Crawford and Kathryn J Swoboda and Petra Kaufmann and Peter Juhasz and Xiaohong Li and Y. A. Guo and Rebecca H. Li and Felicia L. Trachtenberg and Suzanne J. Forrest and Dione T. Kobayashi and Karen S. Chen and Cynthia L. Joyce and Thomas N Plasterer},
  booktitle={PloS one},
  year={2012}
}
BACKGROUND Spinal Muscular Atrophy (SMA) is a neurodegenerative motor neuron disorder resulting from a homozygous mutation of the survival of motor neuron 1 (SMN1) gene. The gene product, SMN protein, functions in RNA biosynthesis in all tissues. In humans, a nearly identical gene, SMN2, rescues an otherwise lethal phenotype by producing a small amount of full-length SMN protein. SMN2 copy number inversely correlates with disease severity. Identifying other novel biomarkers could inform… CONTINUE READING

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