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IKAP/hELP1 deficiency in the cerebrum of familial dysautonomia patients results in down
 

Summary: IKAP/hELP1 deficiency in the cerebrum of
familial dysautonomia patients results in down
regulation of genes involved in oligodendrocyte
differentiation and in myelination
David Cheishvili1
, Channa Maayan1
, Yoav Smith2
, Gil Ast3
and Aharon Razin4,*
1
Department of Pediatrics, Hadassah University Hospital, Mount Scopus, Jerusalem, Israel, 2
Genomic Data
Analysis Unit of the Hebrew University Medical School, 3
Department of Human Molecular Genetics, Tel Aviv
University Medical School, Ramat Aviv, Israel and 4
Department of Cellular Biochemistry and Human Genetics,
The Hebrew University Medical School, Jerusalem, Israel
Received May 2, 2007; Revised and Accepted June 19, 2007
The gene affected in the congenital neuropathy familial dysautonomia (FD) is IKBKAP that codes for the IKAP/
hELP1 protein. Several different functions have been suggested for this protein, but none of them have been

  

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

 

Collections: Biology and Medicine