LAUSR

About LAUSR
Donate
Contact Us

Follow us:

You are not signed in:

Sign Up!


   Articles with "smn protein" as a keyword



Photo from wikipedia

SMN regulation in SMA and in response to stress: new paradigms and therapeutic possibilities

Sign Up to like & get
recommendations! Published in 2017 at "Human Genetics"

DOI: 10.1007/s00439-017-1835-2

Abstract: Low levels of the survival of motor neuron (SMN) protein cause the neurodegenerative disease spinal muscular atrophy (SMA). SMA is a pediatric disease characterized by spinal motor neuron degeneration. SMA exhibits several levels of severity… read more here.

Keywords: response; smn protein; smn; disease ... See more keywords
Photo by alinnnaaaa from unsplash

Augmenting the SMN Protein to Treat Infantile Spinal Muscular Atrophy

Sign Up to like & get
recommendations! Published in 2018 at "Neuron"

DOI: 10.1016/j.neuron.2018.02.009

Abstract: Spinal muscular atrophy (SMA) is a common and oft-fatal pediatric neuromuscular disorder caused by insufficient SMN protein. Now, two clinical trials (Mendell et al., 2017; Finkel et al., 2017) demonstrate that restoring the protein is therapeutic, offering… read more here.

Keywords: smn protein; spinal muscular; muscular atrophy; augmenting smn ... See more keywords
Photo by nci from unsplash

Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue.

Sign Up to like & get
recommendations! Published in 2021 at "Nature medicine"

DOI: 10.1038/s41591-021-01483-7

Abstract: Spinal muscular atrophy type 1 (SMA1) is a debilitating neurodegenerative disease resulting from survival motor neuron 1 gene (SMN1) deletion/mutation. Onasemnogene abeparvovec (formerly AVXS-101) is a gene therapy that restores SMN production via one-time systemic… read more here.

Keywords: abeparvovec dna; administration; biodistribution; smn protein ... See more keywords
Photo from wikipedia

SMN protein is required throughout life to prevent spinal muscular atrophy disease progression.

Sign Up to like & get
recommendations! Published in 2021 at "Human molecular genetics"

DOI: 10.1093/hmg/ddab220

Abstract: Spinal muscular atrophy (SMA) is caused by the loss of the survival motor neuron 1 (SMN1) gene function. The related SMN2 gene partially compensates but produces insufficient levels of SMN protein due to alternative splicing… read more here.

Keywords: protein; smn protein; spinal muscular; mice ... See more keywords
Photo by nci from unsplash

Discrepancy in redetermination of SMN2 copy numbers in children with SMA

Sign Up to like & get
recommendations! Published in 2019 at "Neurology"

DOI: 10.1212/wnl.0000000000007836

Abstract: Spinal muscular atrophy (SMA) is a rare autosomal recessive inherited neuromuscular disease with an incidence of about 1:6,000 to 1:10,000 in newborns. The clinical spectrum of severity is broad and ranges from early and severe… read more here.

Keywords: discrepancy redetermination; smn protein; copy; smn2 copy ... See more keywords
Photo from wikipedia

Nusinersen: antisense oligonucleotide to increase SMN protein production in spinal muscular atrophy.

Sign Up to like & get
recommendations! Published in 2017 at "Drugs of today"

DOI: 10.1358/dot.2017.53.6.2652413

Abstract: Patients with spinal muscular atrophy (SMA) have an autosomal recessive disease that limits their ability to produce survival motor neuron (SMN) protein in the CNS resulting in progressive wasting of voluntary muscles. Detailed studies over… read more here.

Keywords: smn protein; spinal muscular; increase; muscular atrophy ... See more keywords