Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
SUBMITTER: El ChM-CM-)rif Ibrahim
PROVIDER: E-GEOD-27915 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Human mutation 20120117 3
Familial dysautonomia (FD) is a rare inherited neurodegenerative disorder. The most common mutation is a c.2204+6T>C transition in the 5' splice site (5'ss) of IKBKAP intron 20, which causes a tissue-specific skipping of exon 20, resulting in lower synthesis of IKAP/hELP1 protein. To better understand the specificity of neuron loss in FD, we modeled the molecular mechanisms of IKBKAP mRNA splicing by studying human olfactory ecto-mesenchymal stem cells (hOE-MSCs) derived from FD patient nasal bi ...[more]