Article
[Molecular and cellular characterization ion of IKAP protein and the Elongator complex. Implications for familial dysautonomia].
Bulletin et memoires de l'Academie royale de medecine de Belgique - 1 Jan 2007
Close P, Creppe C, Cornez I, Chariot M A, Chariot A
Abstract excerpt
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...
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