Ontology highlight
ABSTRACT:
SUBMITTER: Cho S
PROVIDER: S-EPMC4542050 | biostudies-literature | 2014 Jun
REPOSITORIES: biostudies-literature
Cho Sunghee S Moon Heegyum H Loh Tiing Jen TJ Oh Hyun Kyung HK Williams Darren Reese DR Liao D Joshua DJ Zhou Jianhua J Green Michael R MR Zheng Xuexiu X Shen Haihong H
Biochimica et biophysica acta 20140314 6
Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease and a leading cause of infant mortality. Deletions or mutations of SMN1 cause SMA, a gene that encodes a SMN protein. SMN is important for the assembly of Sm proteins onto UsnRNA to UsnRNP. SMN has also been suggested to direct axonal transport of β-actin mRNA in neurons. Humans contain a second SMN gene called SMN2 thus SMA patients produce some SMN but not with sufficient levels. The majority of SMN2 mRNA does not include ...[more]