IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia

Deficiency in the IKAP/Elp1 protein leads to the recessive sensory autosomal congenital neuropathy which is called familial dysautonomia (FD). This protein was originally identified as a role player in transcriptional elongation being a subunit of the RNAPII transcriptional Elongator multi-protein c...

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Veröffentlicht in:	Human molecular genetics 2011-04, Vol.20 (8), p.1585-1594
Hauptverfasser:	CHEISHVILI, David, MAAYAN, Channa, COHEN-KUPIEC, Rachel, LEFLER, Sharon, WEIL, Miguel, AST, Gil, RAZIN, Aharon
Format:	Artikel
Sprache:	eng
Schlagworte:	Acetylation Biological and medical sciences Carrier Proteins - genetics Case-Control Studies Cell Adhesion Cell Line, Tumor Cell Shape Cell structures and functions Cerebrum - metabolism Child Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction Cytoskeleton, cytoplasm. Intracellular movements Dysautonomia, Familial - metabolism Dysautonomia, Familial - pathology Female Fibroblasts - cytology Fibroblasts - metabolism Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Histone Acetyltransferases - metabolism Humans Male Medical sciences Membrane Proteins - genetics Membrane Proteins - metabolism Microtubules - metabolism Middle Aged Molecular and cellular biology Nerve Tissue Proteins - metabolism Nervous system (semeiology, syndromes) Neurites - metabolism Neurology Repressor Proteins - metabolism RNA Interference Tubulin - metabolism Up-Regulation
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