Familial dysautonomia

Current Opinion in Genetics and Development

Volumn 12, Issue 3, 2002, Pages 307-311

  Slaugenhaupt, Susan A ^a   Gusella, James F ^b  

^a HARVARD MEDICAL SCHOOL   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; MESSENGER RNA; PROTEIN; PROTEIN IKAP; UNCLASSIFIED DRUG; CARRIER PROTEIN; IKBKAP PROTEIN, HUMAN;

DYSAUTONOMIA; EXON; GENOME; HUMAN; LYMPHOBLAST; MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; REVIEW; RNA SPLICING; ANIMAL; ANTIBODY SPECIFICITY; GENETICS; MACROMOLECULE;

ANIMALS; CARRIER PROTEINS; DYSAUTONOMIA, FAMILIAL; HUMANS; MACROMOLECULAR SUBSTANCES; ORGAN SPECIFICITY; RNA SPLICING;

EID: 0036591667     PISSN: 0959437X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0959-437X(02)00303-9     Document Type: Review

References (23)

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7. Precise genetic mapping and haplotype analysis of the familial dysautonomia gene region on human chromosome 9q31
8. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia
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13. Alternative splicing of pre-mRNA: Developmental consequences and mechanisms of regulation
14. IKAP is a scaffold protein of the IkB kinase complex
15. The IκB Kinase (IKK) complex tripartite and contains IKKγ but not IKAP as a regular component
16. Elongator, a multisubunit component of a novel RNA polymerase II holoenzyme for transcriptional elongation
17. RNA polymerase II elongator holoenzyme is composed of two discrete subcomplexes
18. A multiprotein complex that interacts with RNA polymerase II elongator
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20. Purification and characterization of the human Elongator complex
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23. Genomic organization and chromosomal localization of the mouse IKBKAP gene