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[Molecular and cellular characterization ion of IKAP protein and the Elongator complex. Implications for familial dysautonomia].

Authors: P, Close; C, Creppe; I, Cornez; M A, Chariot; A, Chariot;

[Molecular and cellular characterization ion of IKAP protein and the Elongator complex. Implications for familial dysautonomia].

Abstract

Familial dysautonomia (FD), a severe neuro-developmental and neurodegenerative genetic disorder, is caused by mutations of IKBKAP encoding a subunit of Elongator. FD patients have decreased expression of IKAP in a tissue-specific manner and consequently impaired Elongator function. The biological roles of human IKAP/Elongator remained elusive for a while. However, recent data based on the generation of cellular loss of function models of IKAP through RNA interference strongly suggest a role for this protein in transcriptional elongation. Other data also provide evidence for a role of Elongator in tRNA modifications. Importantly, cells depleted for IKAP have defects in cell motility because of impaired transcriptional elongation of some genes coding for proteins involved in cell migration. Therefore, cell motility deficiency seen in IKAP depleted cells may underlie the neuropathology of FD patients.

Related Organizations
Keywords

RNA, Transfer, Cell Movement, Mutation, Dysautonomia, Familial, Gene Expression, Humans, RNA, RNA Interference, Transcriptional Elongation Factors, Carrier Proteins

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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.
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