ReviewNeuromolecular medicine2008
The molecular basis of familial dysautonomia: overview, new discoveries and implications for directed therapies.
Review in Neuromolecular medicine, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 43 citations in OpenAlex.
- Modelling neurocardiac physiology and diseases using human pluripotent stem cells: current progress and future prospects.The Journal of physiology · 2025Review
- Modifications of the human tRNA anticodon loop and their associations with genetic diseases.Cellular and molecular life sciences : CMLS · 2021Review
- Article
- Genomics of Cardiovascular Measures of Autonomic Tone.Journal of cardiovascular pharmacology · 2018Review
- Cardiac Autonomic Neuropathy Predicts All-Cause and Cardiovascular Mortality in Patients With End-Stage Renal Failure: A 5-Year Prospective Study.Kidney international reports · 2017Article
- Review
- Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.The American journal of pathology · 2016Review
- Selective retinal ganglion cell loss in familial dysautonomia.Journal of neurology · 2014Article
- Cyclic vomiting associated with excessive dopamine in Riley-day syndrome.Journal of clinical gastroenterology · 2013Article
- IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia.Human molecular genetics · 2012Article
- Neural crest contribution to lingual mesenchyme, epithelium and developing taste papillae and taste buds.Developmental biology · 2012Article
- Crystal structure and RNA binding properties of the RNA recognition motif (RRM) and AlkB domains in human AlkB homolog 8 (ABH8), an enzyme catalyzing tRNA hypermodification.The Journal of biological chemistry · 2012Article
- Induced pluripotent stem cells to model and treat neurogenetic disorders.Neural plasticity · 2012Review
- Regulation of the mutually exclusive exons 8a and 8 in the CaV1.2 calcium channel transcript by polypyrimidine tract-binding protein.The Journal of biological chemistry · 2011Article
- Article
- Patient-specific pluripotent stem cells in neurological diseases.Stem cells international · 2011Article
- Article
- Mammalian ALKBH8 possesses tRNA methyltransferase activity required for the biogenesis of multiple wobble uridine modifications implicated in translational decoding.Molecular and cellular biology · 2010Article
- The pathobiology of splicing.The Journal of pathology · 2010Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 primarily on addressing the symptoms experienced by those with this fatal disorder. The primary FD-causing mutation is an intronic nucleotide substitution that alters the splicing of the IKBKAP-derived transcript. Recent efforts have resulted in the development of new therapeutic modalities that facilitate the increased production of the correctly spliced transcript and mitigate the symptoms of those with FD. Furthermore, the recent demonstration of the reduced presence of monoamine oxidase A in cells and tissues of individuals with FD has provided new insight into the cause of hypertensive crises experienced by these patients.
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Registered trials
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.