Ontology highlight
ABSTRACT:
SUBMITTER: Van Meerbeke JP
PROVIDER: S-EPMC3781637 | biostudies-literature | 2013 Oct
REPOSITORIES: biostudies-literature
Van Meerbeke James P JP Gibbs Rebecca M RM Plasterer Heather L HL Miao Wenyan W Feng Zhihua Z Lin Ming-Yi MY Rucki Agnieszka A AA Wee Claribel D CD Xia Bing B Sharma Shefali S Jacques Vincent V Li Darrick K DK Pellizzoni Livio L Rusche James R JR Ko Chien-Ping CP Sumner Charlotte J CJ
Human molecular genetics 20130531 20
Spinal muscular atrophy (SMA) is caused by mutations of the survival motor neuron 1 (SMN1) gene, retention of the survival motor neuron 2 (SMN2) gene and insufficient expression of full-length survival motor neuron (SMN) protein. Quinazolines increase SMN2 promoter activity and inhibit the ribonucleic acid scavenger enzyme DcpS. The quinazoline derivative RG3039 has advanced to early phase clinical trials. In preparation for efficacy studies in SMA patients, we investigated the effects of RG3039 ...[more]