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Tocotrienols reverse IKAP and monoamine oxidase deficiencies in familial dysautonomia
Biochemical and Biophysical Research Communications, 2005Familial dysautonomia (FD), a recessive neurodegenerative disease, is caused by mutations in the IKBKAP gene that result in the production of nonfunctional IKAP protein. Manifestations of FD include autonomic crises characterized by hypertension, tachycardia, diaphoresis, and vomiting. Elevated plasma levels of norepinephrine (NE) and dopamine observed
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EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia
Biochemical and Biophysical Research Communications, 2003Familial dysautonomia (FD) is an autosomal recessive neurodegenerative disorder. The most prevalent causative mutation is a T-->C transition in a donor splice site of the IKBKAP transcript, resulting in aberrant splicing and a truncated protein. The mutation's position and leaky nature suggested that its impact might be moderated by altering the level ...
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