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Article . 2014 . Peer-reviewed
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Article . 2014
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A neuron autonomous role for the familial dysautonomia geneELP1in sympathetic and sensory target tissue innervation

Authors: Marisa Z, Jackson; Katherine A, Gruner; Charles, Qin; Warren G, Tourtellotte;

A neuron autonomous role for the familial dysautonomia geneELP1in sympathetic and sensory target tissue innervation

Abstract

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 migration, differentiation and survival of migratory neural crest (NC) progenitors that give rise to sympathetic and sensory neurons. Loss of Elp1 in NC progenitors did not impair their migration, proliferation or survival, but there was a significant impact on post-migratory sensory and sympathetic neuron survival and target tissue innervation. Ablation of Elp1 in post-migratory sympathetic neurons caused highly abnormal target tissue innervation that was correlated with abnormal neurite outgrowth/branching and abnormal cellular distribution of soluble tyrosinated α-tubulin in Elp1-deficient primary sympathetic and sensory neurons. These results indicate that neuron loss and physiologic impairment in FD is not a consequence of abnormal neuron progenitor migration, differentiation or survival. Rather, loss of Elp1 leads to neuron death as a consequence of failed target tissue innervation associated with impairments in cytoskeletal regulation.

Keywords

Mice, Knockout, Neurons, Cell Survival, Neurogenesis, Stem Cells, Intracellular Signaling Peptides and Proteins, Apoptosis, Cell Differentiation, Mice, Cell Movement, Neural Crest, Dysautonomia, Familial, Animals, Humans, Point Mutation, Ganglia, Carrier Proteins, Alleles, Crosses, Genetic, Cell Proliferation

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
72
Top 10%
Top 10%
Top 10%
bronze