Survival Motor Neuron Affects Plastin 3 Protein Levels Leading to Motor Defects
نویسندگان
چکیده
منابع مشابه
Survival motor neuron affects plastin 3 protein levels leading to motor defects.
The actin-binding protein plastin 3 (PLS3) has been identified as a modifier of the human motoneuron disease spinal muscular atrophy (SMA). SMA is caused by decreased levels of the survival motor neuron protein (SMN) and in its most severe form causes death in infants and young children. To understand the mechanism of PLS3 in SMA, we have analyzed pls3 RNA and protein in zebrafish smn mutants. ...
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The SMN (survival motor neuron) gene plays an important role in ontogenesis and its dysfunction leads to immatu-rity of skeletal muscles and motor neurons in the spinal cord. As a result of SMN mutations the affected cells die and clinical symptoms of spinal muscular atrophy (SMA) develop. Physiologically, SMN together with gemins is part of a multiprotein complex of particular importance to mo...
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ژورنال
عنوان ژورنال: Journal of Neuroscience
سال: 2012
ISSN: 0270-6474,1529-2401
DOI: 10.1523/jneurosci.5808-11.2012