Article
Brief report: phenotypic rescue of induced pluripotent stem cell-derived motoneurons of a spinal muscular atrophy patient.
Stem cells (Dayton, Ohio) - 1 Dec 2011
Chang Tammy, Zheng Weiyan, Tsark Walter, Bates Steven, Huang He, Lin Ren-Jang, Yee Jiing-Kuan
Abstract excerpt
Spinal muscular atrophy (SMA) is one of the most common autosomal recessive disorders in humans and is a common genetic cause of infant mortality. The disease is caused by loss of the survival of motoneuron (SMN) protein, resulting in the degeneration of alpha motoneurons in spinal cord and muscular atrophy in the limbs and trunk. One function of SMN involves RNA splicing. It is unclear why a deficiency in a...
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