Combinatorial Treatment Increases IKAP Levels in Human Cells Generated from Familial Dysautonomia Patients

Abstract excerpt

Familial Dysautonomia (FD) is an autosomal recessive congenital neuropathy that results from a point mutation at the 5’ splice site of intron 20 in the IKBKAP gene. This mutation decreases production of the IKAP protein, and treatments that increase the level of the full-length IKBKAP transcript are likely to be of therapeutic value. We previously found that phosphatidylserine (PS), an FDA-approved food suppleme...

Topics

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• Amino Acid Sequence
• Carrier Proteins
• Catecholamines
• Molecular Sequence Data
• Monoamine Oxidase
• Mutation
• RNA Splicing
• Transcriptional Elongation Factors

Identifiers and source

Literature Corpus work

5122cb27-cc3e-55f1-8ad3-d49cd5fec297

DOI

10.1101/524587