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A novel cell immunoassay to measure survival of motor neurons protein in blood cells |
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| Authors: | Stephen J Kolb Amelie K Gubitz Robert F Olszewski Jr Elizabeth Ottinger Charlotte J Sumner Kenneth H Fischbeck Gideon Dreyfuss |
| Institution: | (1) Howard Hughes Medical Institute And Department of Biochemistry & Biophysics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104-6148, USA;(2) Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA |
| Abstract: | BackgroundThe motor neuron degenerative disease spinal muscular atrophy (SMA) is the leading genetic cause of infant mortality and is caused by mutations in the survival of motor neurons (SMN) gene that reduce the expression levels of the SMN protein. A major goal of current therapeutic approaches is to increase SMN levels in SMA patients. The purpose of this study was to develop a reliable assay to measure SMN protein levels from peripheral blood samples. |
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