Hofmann et al., Proc Natl Acad Sci U S A 2000
(Muscular Atrophy, Spinal) :
Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)
Brichta et al., Hum Mol Genet 2003
(Muscular Atrophy, Spinal) :
Importantly, this up-regulation of SMN could be most likely attributed to increased levels of Htra2-beta 1 which facilitates the correct splicing of SMN2 RNA as well as to an SMN gene transcription activation