Article
Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy.
Human molecular genetics - 1 Feb 2010
Butchbach Matthew E R, Singh Jasbir, Thorsteinsdóttir Margrét, Saieva Luciano, Slominski Elzbieta, Thurmond John, Andrésson Thorkell, Zhang Jun, Edwards Jonathan D, Simard Louise R, Pellizzoni Livio, Jarecki Jill, Burghes Arthur H M, Gurney Mark E
Abstract excerpt
Proximal spinal muscular atrophy (SMA), one of the most common genetic causes of infant death, results from the selective loss of motor neurons in the spinal cord. SMA is a consequence of low levels of survival motor neuron (SMN) protein. In humans, the SMN gene is duplicated; SMA results from the loss of SMN1 but SMN2 remains intact. SMA severity is related to the copy number of SMN2. Compounds which increase...
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