Article
The molecular basis of familial dysautonomia: overview, new discoveries and implications for directed therapies.
Neuromolecular medicine - 1 Jan 2008
Rubin Berish Y, Anderson Sylvia L
Abstract excerpt
Familial dysautonomia (FD) is a sensory and autonomic neuropathy that affects the development and survival of sensory, sympathetic, and some parasympathetic neurons. It is autosomally inherited and occurs almost exclusively among individuals of Ashkenazi Jewish descent. The pathological and clinical manifestations of FD have been extensively studied and therapeutic modalities have, until recently, focused...
Topics
- Amino Acid Sequence
- Carrier Proteins
- Catecholamines
- Dysautonomia, Familial
- Humans
- Molecular Sequence Data
- Monoamine Oxidase
- Mutation
- RNA Splicing
- Transcriptional Elongation Factors