Structural and Functional Consequences of the SMA-Linked Missense Mutations of the Survival Motor Neuron Protein: A Brief Update
Reference57 articles.
1. Li W. How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein? PLoS One. 2017;12(6):e0178519
2. Burghes AHM. When is a deletion not a deletion? When it is converted. American Journal of Human Genetics. 1997;61(1):9-15
3. Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80(1):155-165
4. Lorson CL, Strasswimmer J, Yao JM, Baleja JD, Hahnen E, Wirth B, et al. SMN oligomerization defect correlates with spinal muscular atrophy severity. Nature Genetics. 1998;19(1):63-66
5. Hua Y, Vickers TA, Okunola HL, Bennett CF, Krainer AR. Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice. American Journal of Human Genetics. 2008;82(4):834-848