Candidate Proteins, Metabolites and Transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study

BACKGROUND: Spinal Muscular Atrophy (SMA) is a neurodegenerative motor neuron disorder resulting from a homozygous mutation of the survival of motor neuron 1 (SMN1) gene. The gene product, SMN protein, functions in RNA biosynthesis in all tissues. In humans, a nearly identical gene, SMN2, rescues an...

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Detalhes bibliográficos
Main Authors: Finkel, Richard S., Crawford, Thomas O., Swoboda, Kathryn J., Kaufmann, Petra, Juhasz, Peter, Li, Xiaohong, Guo, Yu, Li, Rebecca H., Trachtenberg, Felicia, Forrest, Suzanne J., Kobayashi, Dione T., Chen, Karen S., Joyce, Cynthia L., Plasterer, Thomas
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2012
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3338723/
https://ncbi.nlm.nih.gov/pubmed/22558154
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0035462
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