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- Marisa Jackson
- Northwestern University
303 E. Chicago Ave.
- Ward Building, 7-011
- Chicago, IL 60611
- Email me through OpenWetWare
I'm an MSTP student in the Tourtellotte Lab at Northwestern University. I'm currently studying the role of IKAP in the development and maintenance of the sympathetic nervous system. IKAP is believed to be a part of the Elongator complex, which has been implicated in histone and, more recently, α-tubulin acetylation. A point mutation leading to the variable, premature truncation of this protein has been linked to familial dysautonomia, type 3 of the hereditary sensory and autonomic neuropathies (HSANs). This mutation is present in >99.5% of cases. While the causative mutation is present in all cells (and the protein is ubiquitously expressed), the abnormal splicing occurs preferentially within the nervous system. All 5 of the HSANs manifest with sensory deficits and varying degrees of autonomic dysfunction, familial dysautonomia being the most common. The disease is associated with a range of severe symptoms, including impaired pain/temperature sensation, postural hypotension, episodic vomiting and scoliosis.
- 2005, BA, Washington University in St. Louis
- Molecular biology
- Goldbeter A and Koshland DE Jr. . pmid:6947258.
- JACOB F and MONOD J. . pmid:13718526.
leave a comment about a paper here
- Mark Ptashne. A genetic switch. Cold Spring Harbor, N.Y.: Cold Spring Harbor Laboratory Press, 2004. isbn:0879697164.