ArticleAmerican journal of human genetics2001
Familial dysautonomia is caused by mutations of the IKAP gene.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 192 papers, 1 of them a synthesis that pooled it.
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Who cites it
192 citing papers in PubMed, 1 synthesis or guideline pooled it, 432 citations in OpenAlex.
- Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.Nature genetics · 2012Pooled it
- Tocotrienol Treatment in Familial Dysautonomia: Open-Label Pilot Study.Journal of molecular neuroscience : MN · 2016Trial
- Genetic factors underlying the risk of bortezomib induced peripheral neuropathy in multiple myeloma patients.Haematologica · 2011Trial
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- Elp3 uses a conserved molecular tunnel to transport acetate between distant active sites and catalyze tRNA wobble base modification.Nature communications · 2026Article
- An Orthogonal Way of Writing the Tubulin Code.Cytoskeleton (Hoboken, N.J.) · 2026Review
- Prime editing of the common Familial Dysautonomia-causing c.2204 + 6T > C splicing mutation.Orphanet journal of rare diseases · 2026Article
- Deletion of Elongator Protein 1 (Elp1) relieves heterochromatin defects in a Pol II mutant of Schizosaccharomyces pombe.Genetics · 2026Article
- tRNA modifications: greasing the wheels of translation and beyond.RNA biology · 2025Review
- Elp1 function in placode-derived neurons is critical for proper trigeminal ganglion development.Developmental dynamics : an official publication of the American Association of Anatomists · 2025Article
- tRNA binding to Kti12 is crucial for wobble uridine modification by Elongator.Nucleic acids research · 2025Article
- The role of structure in regulatory RNA elements.Bioscience reports · 2024Review
- Article
- The Relationship Between Scoliosis, Spinal Bone Density, and Truncal Muscle Strength in Familial Dysautonomia Patients.Calcified tissue international · 2024Article
- Alternative splicing of modulatory immune receptors in T lymphocytes: a newly identified and targetable mechanism for anticancer immunotherapy.Frontiers in immunology · 2024Review
- Sensorimotor control in the congenital absence of functional muscle spindles.Experimental physiology · 2024Review
- Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators.Scientific reports · 2023Article
- A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype.Journal of human genetics · 2023Article
- Cryo-EM structure of the fully assembled Elongator complex.Nucleic acids research · 2023Article
132 more citing papers are in PubMed but not listed here.
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The defective gene DYS, which is responsible for familial dysautonomia (FD) and has been mapped to a 0.5-cM region on chromosome 9q31, has eluded identification. We identified and characterized the RNAs encoded by this region of chromosome 9 in cell lines derived from individuals homozygous for the major FD haplotype, and we observed that the RNA encoding the IkappaB kinase complex-associated protein (IKAP) lacks exon 20 and, as a result of a frameshift, encodes a truncated protein. Sequence analysis reveals a T-->C transition in the donor splice site of intron 20. In individuals bearing a minor FD haplotype, a missense mutation in exon 19 disrupts a consensus serine/threonine kinase phosphorylation site. This mutation results in defective phosphorylation of IKAP. These mutations were observed to be present in a random sample of Ashkenazi Jewish individuals, at approximately the predicted carrier frequency of FD. These findings demonstrate that mutations in the gene encoding IKAP are responsible for FD.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.