ArticlePloS one2010
Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells.
Article in PloS one, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 41 citations in OpenAlex.
- Tocotrienol Treatment in Familial Dysautonomia: Open-Label Pilot Study.Journal of molecular neuroscience : MN · 2016Trial
- Genipin rescues developmental and degenerative defects in familial dysautonomia models and accelerates axon regeneration.Science translational medicine · 2024Article
- Hereditary Sensory and Autonomic Neuropathies: Adding More to the Classification.Current neurology and neuroscience reports · 2019Review
- Combinatorial treatment increases IKAP levels in human cells generated from Familial Dysautonomia patients.PloS one · 2019Article
- Retina-specific loss ofDisease models & mechanisms · 2018Article
- Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.Human molecular genetics · 2018Article
- Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice.Nucleic acids research · 2018Article
- Modulation of aberrant splicing in human RNA diseases by chemical compounds.Human genetics · 2017Review
- RBM24 promotes U1 snRNP recognition of the mutated 5' splice site in theRNA (New York, N.Y.) · 2017Article
- Phosphatidylserine improves axonal transport by inhibition of HDAC and has potential in treatment of neurodegenerative diseases.Neural regeneration research · 2017Review
- Review
- Phosphatidylserine Ameliorates Neurodegenerative Symptoms and Enhances Axonal Transport in a Mouse Model of Familial Dysautonomia.PLoS genetics · 2016Article
- Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia.Human molecular genetics · 2016Article
- Rectifier of aberrant mRNA splicing recovers tRNA modification in familial dysautonomia.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
- Current treatments in familial dysautonomia.Expert opinion on pharmacotherapy · 2014Review
- A rating scale for the functional assessment of patients with familial dysautonomia (Riley Day syndrome).The Journal of pediatrics · 2012Article
- IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia.Human molecular genetics · 2012Article
- mRNA transcript diversity creates new opportunities for pharmacological intervention.Molecular pharmacology · 2012Review
- Article
- Mechanisms of disease in hereditary sensory and autonomic neuropathies.Nature reviews. Neurology · 2012Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial Dysautonomia (FD) is an autosomal recessive congenital neuropathy that results from abnormal development and progressive degeneration of the sensory and autonomic nervous system. The mutation observed in almost all FD patients is a point mutation at position 6 of intron 20 of the IKBKAP gene; this gene encodes the IκB kinase complex-associated protein (IKAP). The mutation results in a tissue-specific splicing defect: Exon 20 is skipped, leading to reduced IKAP protein expression. Here we show that phosphatidylserine (PS), an FDA-approved food supplement, increased IKAP mRNA levels in cells derived from FD patients. Long-term treatment with PS led to a significant increase in IKAP protein levels in these cells. A conjugate of PS and an omega-3 fatty acid also increased IKAP mRNA levels. Furthermore, PS treatment released FD cells from cell cycle arrest and up-regulated a significant number of genes involved in cell cycle regulation. Our results suggest that PS has potential for use as a therapeutic agent for FD. Understanding its mechanism of action may reveal the mechanism underlying the FD disease.
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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.