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Updated: Oct 2, 2025

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
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TDP-43の損失とALSリスクのSNPは,UNC13Aのミスプライシングと枯渇を誘導する

Anna-Leigh Brown1, Oscar G Wilkins1,2, Matthew J Keuss1

  • 1UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK.

Nature
|February 24, 2022
PubMed
まとめ

UNC13A遺伝子の変異は ALSやFTDのような神経変性疾患のリスクを高めます TDP-43タンパク質の枯渇は,UNC13Aエクソンの含有を引き起こし,タンパク質の損失と疾患の悪化につながります.

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