Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development.
A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice.
Human Molecular Genetics
Workman, Eileen E; Saieva, Luciano L; Carrel, Tessa L TL; Crawford, Thomas O TO; Liu, Don D; Lutz, Cathleen C; Beattie, Christine E CE; Pellizzoni, Livio L; Burghes, Arthur H M AH
Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Carrel, Tessa L TL; McWhorter, Michelle L ML; Workman, Eileen E; Zhang, Honglai H; Wolstencroft, Elizabeth C EC; Lorson, Christian C; Bassell, Gary J GJ; Burghes, Arthur H M AH; Beattie, Christine E CE