hnRNP M facilitates exon 7 inclusion of SMN2 pre-mRNA in spinal muscular atrophy by targeting an enhancer on exon 7.

@article{Cho2014hnRNPMF,
  title={hnRNP M facilitates exon 7 inclusion of SMN2 pre-mRNA in spinal muscular atrophy by targeting an enhancer on exon 7.},
  author={Sunghee Cho and Heegyum Moon and Tiing Jen Loh and Huyn Kyung Oh and Sungchan Cho and Hyon E Choy and Woo Keun Song and Jang-Soo Chun and Xuexiu Zheng and Haihong Shen},
  journal={Biochimica et biophysica acta},
  year={2014},
  volume={1839 4},
  pages={306-15}
}
Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease, which causes death of motor neurons in the anterior horn of the spinal cord. Genetic cause of SMA is the deletion or mutation of SMN1 gene, which encodes the SMN protein. Although SMA patients include SMN2 gene, a duplicate of SMN1 gene, predominant production of exon 7 skipped isoform from SMN2 pre-mRNA, fails to rescue SMA patients. Here we show that hnRNP M, a member of hnRNP protein family, when knocked down, promotes… CONTINUE READING
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Hrp59

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