Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls.
Spinal muscular atrophy is caused by a functional deletion of SMN1 on Chromosome 5, which leads to a progressive loss of motor function in affected patients. SMA patients have at least one copy of a similar gene, SMN2, which produces functional SMN protein, although in reduced quantities. The severi...
Main Authors: | Christian Czech, Wakana Tang, Teodorica Bugawan, Calvin Mano, Carsten Horn, Victor Alejandro Iglesias, Stefanie Fröhner, Phillip G Zaworski, Sergey Paushkin, Karen Chen, Thomas Kremer |
---|---|
Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2015-01-01
|
Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC4607439?pdf=render |
Similar Items
-
The Need for SMN-Independent Treatments of Spinal Muscular Atrophy (SMA) to Complement SMN-Enhancing Drugs
by: Niko Hensel, et al.
Published: (2020-02-01) -
Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study.
by: Thomas O Crawford, et al.
Published: (2012-01-01) -
Spinal muscular atrophy in Venezuela: quantitative analysis of SMN1 and SMN2 genes
by: Yuri Yépez, et al.
Published: (2020-06-01) -
Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy
by: Darija Šoltić, et al.
Published: (2020-03-01) -
Therapeutic strategies for spinal muscular atrophy: SMN and beyond
by: Bowerman, M, et al.
Published: (2017)