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

Summary: IKAP/Elp1 involvement in cytoskeleton regulation
and implication for familial dysautonomia
David Cheishvili1,3, Channa Maayan3, Rachel Cohen-Kupiec2, Sharon Lefler2, Miguel Weil2,
Gil Ast4 and Aharon Razin1,
1
Department of Developmental Biology and Cancer Research, Institute of Medical Research Israel-Canada,
The Hebrew University Hadassah Medical School, Jerusalem, Israel, 2
Department of Cell Research and Immunology,
Tel-Aviv University, Ramat-Aviv, Israel, 3
Department of Pediatrics, Israeli Familial Dysautonomia Center, Hadassah
University Hospital Mount Scopus, Jerusalem, Israel and 4
Department of Human Molecular Genetics, Tel-Aviv
University Medical School, Ramat Aviv, Israel
Received November 29, 2010; Revised January 12, 2011; Accepted January 24, 2011
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 complex. Subsequently,
IKAP/Elp1 was shown to play various functions in the cytoplasm. Here, we describe experiments performed
with IKAP/Elp1 downregulated cell lines and FD-derived cells and tissues. Immunostaining of the cytoskele-
ton component a-tubulin in IKAP/Elp1 downregulated cells revealed disorganization of the microtubules

  

Source: Ast, Gil - Department of Molecular Genetics and Biochemistry, Tel Aviv University

 

Collections: Biology and Medicine