Article
A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation.
Development (Cambridge, England) - 1 Jun 2014
Jackson Marisa Z, Gruner Katherine A, Qin Charles, Tourtellotte Warren G
Abstract excerpt
Familial dysautonomia (FD) is characterized by severe and progressive sympathetic and sensory neuron loss caused by a highly conserved germline point mutation of the human ELP1/IKBKAP gene. Elp1 is a subunit of the hetero-hexameric transcriptional elongator complex, but how it functions in disease-vulnerable neurons is unknown. Conditional knockout mice were generated to characterize the role of Elp1 in...
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