Article
Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study.
PloS one - 1 Jan 2012
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
Abstract excerpt
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 otherwise lethal phenotype by producing a small amount of full-length SMN protein. SMN2 copy number inversely...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.