July 26, 2006Molecular TherapyOpen Access

Specific inhibition of nonsense-mediated mRNA decay components, SMG-1 or Upf1, rescues the phenotype of ullrich disease fibroblasts

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Why the study?

Does siRNA-mediated knockdown of SMG-1 or Upf1 rescue the phenotype of Ullrich disease fibroblasts?

Structured PICO

Does siRNA-mediated knockdown of SMG-1 or Upf1 rescue the phenotype of Ullrich disease fibroblasts?

Population

Fibroblasts from a patient with Ullrich disease (autosomal recessive congenital muscular dystrophy) with a homozygous frameshift mutation and premature translation termination codon in the collagen VI alpha2 gene

Intervention

siRNA-mediated knockdown of SMG-1 or Upf1

Outcome

Up-regulation of mutant triple-helical collagen VI and formation of partially functional extracellular matrix (ECM)surrogate

Inhibition of nonsense-mediated mRNA decay via SMG-1 or Upf1 knockdown rescues the cellular phenotype in Ullrich disease fibroblasts, suggesting a potential therapeutic approach for genetic diseases exacerbated by NMD.

Discussion

No takes yet. Share an insight, caveat, or question.

Implication

Hypothesis-generating for NMD inhibition in Ullrich disease; leaves open in vivo efficacy and clinical translation.

Cite This Study

Usuki et al. (2006) studied this question.

synapsesocial.com/papers/6a7644f2963158a977bcb89e https://doi.org/10.1016/j.ymthe.2006.04.011

View Full Paper

Ask AI

Bookmark

Specific inhibition of nonsense-mediated mRNA decay components, SMG-1 or Upf1, rescues the phenotype of ullrich disease fibroblasts

Structured PICO

Discussion

Implication

Cite This Study

Specific inhibition of nonsense-mediated mRNA decay components, SMG-1 or Upf1, rescues the phenotype of ullrich disease fibroblasts

Structured PICO

Discussion

Implication

Cite This Study

Also Consider

Also Consider