ArticlePLoS genetics2016
Phosphatidylserine Ameliorates Neurodegenerative Symptoms and Enhances Axonal Transport in a Mouse Model of Familial Dysautonomia.
Article in PLoS genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 42 citations in OpenAlex.
- 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
- Article
- Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.Scientific reports · 2024Article
- Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia.American journal of human genetics · 2023Article
- Loss of the m6A methyltransferase METTL3 in monocyte-derived macrophages ameliorates Alzheimer's disease pathology in mice.PLoS biology · 2023Article
- Norepinephrine transporter defects lead to sympathetic hyperactivity in Familial Dysautonomia models.Nature communications · 2022Article
- Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia.eLife · 2022Article
- Elp1 is required for development of visceral sensory peripheral and central circuitry.Disease models & mechanisms · 2022Article
- ATP-citrate lyase promotes axonal transport across species.Nature communications · 2021Article
- Identification of key molecular biomarkers involved in reactive and neurodegenerative processes present in inherited congenital hydrocephalus.Fluids and barriers of the CNS · 2021Article
- Development of the Autonomic Nervous System: Clinical Implications.Seminars in neurology · 2020Review
- (H)Elping nerve growth factor: Elp1 inhibits TrkA's phosphatase to maintain retrograde signaling.The Journal of clinical investigation · 2020Article
- Retrograde nerve growth factor signaling abnormalities in familial dysautonomia.The Journal of clinical investigation · 2020Article
- Phosphatidylserine is critical for vesicle fission during clathrin-mediated endocytosis.Journal of neurochemistry · 2020Article
- Emerging roles of histone modifications and HDACs in RNA splicing.Nucleic acids research · 2019Review
- ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.American journal of human genetics · 2019Article
- Combinatorial treatment increases IKAP levels in human cells generated from Familial Dysautonomia patients.PloS one · 2019Article
- Phosphatidylserine Externalization Results from and Causes Neurite Degeneration in Drosophila.Cell reports · 2018Article
- Elongator mutation in mice induces neurodegeneration and ataxia-like behavior.Nature communications · 2018Article
- Retina-specific loss ofDisease models & mechanisms · 2018Article
Corrections and comments
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Authors and funding
13 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial Dysautonomia (FD) is a neurodegenerative disease in which aberrant tissue-specific splicing of IKBKAP exon 20 leads to reduction of IKAP protein levels in neuronal tissues. Here we generated a conditional knockout (CKO) mouse in which exon 20 of IKBKAP is deleted in the nervous system. The CKO FD mice exhibit developmental delays, sensory abnormalities, and less organized dorsal root ganglia (DRGs) with attenuated axons compared to wild-type mice. Furthermore, the CKO FD DRGs show elevated HDAC6 levels, reduced acetylated α-tubulin, unstable microtubules, and impairment of axonal retrograde transport of nerve growth factor (NGF). These abnormalities in DRG properties underlie neuronal degeneration and FD symptoms. Phosphatidylserine treatment decreased HDAC6 levels and thus increased acetylation of α-tubulin. Further PS treatment resulted in recovery of axonal outgrowth and enhanced retrograde axonal transport by decreasing histone deacetylase 6 (HDAC6) levels and thus increasing acetylation of α-tubulin levels. Thus, we have identified the molecular pathway that leads to neurodegeneration in FD and have demonstrated that phosphatidylserine treatment has the potential to slow progression of neurodegeneration.
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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.