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NRAP Reduction Rescues Sarcomere Defects In Nebulin-related Nemaline Myopathy.pdf

NRAP-Reduction.pdf
Preview of NRAP reduction rescues sarcomere defects in nebulin-related nemaline myopathy
🔗 Source: buildingstrength.org
📊 Size: 1.39 MB
📄 Pages: 11 pages
⬇️ Downloads: 114

Summary

Nemaline myopathy (NM) is a rare neuromuscular disorder caused by mutations in 12 genes, with recessive mutations in nebulin (NEB) being the most common cause. Researchers found that Nrap is upregulated in nebulin deficiency and contributes to disease pathology. Genetic ablation of nrap in nebulin-deficient zebrafish restored sarcomeric disorganization, reduced protein aggregates, and improved skeletal muscle function, suggesting that Nrap is a disease modifier and a potential therapeutic target for nebulin-related NM.

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Description

Nemaline myopathy (NM) is a rare neuromuscular disorder caused by mutations in 12 genes, with recessive mutations in nebulin (NEB) being the most common cause.

Technical Information

  • File Format: PDF
  • File Size: 1.39 MB
  • Pages: 11
  • Language: EN
  • Total Downloads: 114
  • Last Updated: 3 weeks ago

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