Article
Modeling the differential phenotypes of spinal muscular atrophy with high-yield generation of motor neurons from human induced pluripotent stem cells.
Oncotarget - 27 Jun 2017
Lin Xiang, Li Jin-Jing, Qian Wen-Jing, Zhang Qi-Jie, Wang Zhong-Feng, Lu Ying-Qian, Dong En-Lin, He Jin, Wang Ning, Ma Li-Xiang, Chen Wan-Jin
Abstract excerpt
Spinal muscular atrophy (SMA) is a devastating motor neuron disease caused by mutations of the survival motor neuron 1 (SMN1) gene. SMN2, a paralogous gene to SMN1, can partially compensate for the loss of SMN1. On the basis of age at onset, highest motor function and SMN2 copy numbers, childhood-onset SMA can be divided into three types (SMA I-III). An inverse correlation was observed between SMN2 copies and the...
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