The role of survival motor neuron protein (SMN) in protein homeostasis
Author:
Funder
MND Scotland
SMA Trust
SMA Europe
Publisher
Springer Science and Business Media LLC
Subject
Cell Biology,Cellular and Molecular Neuroscience,Pharmacology,Molecular Biology,Molecular Medicine
Link
http://link.springer.com/article/10.1007/s00018-018-2849-1/fulltext.html
Reference212 articles.
1. Lefebvre S et al (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80:155–165
2. Schrank B, Götz R, Gunnersen JM, Ure JM, Toyka KV, Smith AG, Sendtner M (1997) Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos. Proc Natl Acad Sci USA 94:9920–9925
3. Groen EJN, Talbot K, Gillingwater TH (2018) Advances in therapy for spinal muscular atrophy: promises and challenges. Nat Rev Neurol 14:214–224
4. Rochette CF, Gilbert N, Simard LR (2001) SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens. Hum Genet 108:255–266
5. Lorson CL, Hahnen E, Androphy EJ, Wirth B (1999) A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci USA 96:6307–6311
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