ReviewClinical autonomic research : official journal of the Clinical Autonomic Research Society2017
Animal and cellular models of familial dysautonomia.
Review in Clinical autonomic research : official journal of the Clinical Autonomic Research Society, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 21 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations.Respiratory medicine · 2018Pooled it
- Trial
- Modelling neurocardiac physiology and diseases using human pluripotent stem cells: current progress and future prospects.The Journal of physiology · 2025Review
- A Comprehensive NMR Analysis of Serum and Fecal Metabolites in Familial Dysautonomia Patients Reveals Significant Metabolic Perturbations.Metabolites · 2023Article
- Norepinephrine transporter defects lead to sympathetic hyperactivity in Familial Dysautonomia models.Nature communications · 2022Article
- Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA.American journal of human genetics · 2022Article
- Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia.eLife · 2022Article
- Genetic pain loss disorders.Nature reviews. Disease primers · 2022Review
- The sympathetic nervous system in development and disease.Nature reviews. Neuroscience · 2021Review
- Bone biomechanical properties and tissue-scale bone quality in a genetic mouse model of familial dysautonomia.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2021Article
- Human iPSC-Based Modeling of Central Nerve System Disorders for Drug Discovery.International journal of molecular sciences · 2021Review
- (H)Elping nerve growth factor: Elp1 inhibits TrkA's phosphatase to maintain retrograde signaling.The Journal of clinical investigation · 2020Article
- Elongator Subunit 3 (Elp3) Is Required for Zebrafish Trunk Development.International journal of molecular sciences · 2020Article
- Quantitative magnetic resonance evaluation of the trigeminal nerve in familial dysautonomia.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2019Article
- Chemoreflex failure and sleep-disordered breathing in familial dysautonomia: Implications for sudden death during sleep.Autonomic neuroscience : basic & clinical · 2019Review
- Combinatorial treatment increases IKAP levels in human cells generated from Familial Dysautonomia patients.PloS one · 2019Article
- Autonomic dysfunction in sleep disorders: introduction to the series.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2018Article
- Key issues in Rett syndrome: emotional, behavioural and autonomic dysregulation (EBAD) - a target for clinical trials.Orphanet journal of rare diseases · 2018Review
- Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice.Nucleic acids research · 2018Article
- [Syndromic Hirschsprung′s disease and its mode of inheritance].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Review
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Since Riley and Day first described the clinical phenotype of patients with familial dysautonomia (FD) over 60 years ago, the field has made considerable progress clinically, scientifically, and translationally in treating and understanding the etiology of FD. FD is classified as a hereditary sensory and autonomic neuropathy (HSAN type III) and is both a developmental and a progressive neurodegenerative condition that results from an autosomal recessive mutation in the gene IKBKAP, also known as ELP1. FD primarily impacts the peripheral nervous system but also manifests in central nervous system disruption, especially in the retina and optic nerve. While the disease is rare, the rapid progress being made in elucidating the molecular and cellular mechanisms mediating the demise of neurons in FD should provide insight into degenerative pathways common to many neurological disorders. Interestingly, the protein encoded by IKBKAP/ELP1, IKAP or ELP1, is a key scaffolding subunit of the six-subunit Elongator complex, and variants in other Elongator genes are associated with amyotrophic lateral sclerosis (ALS), intellectual disability, and Rolandic epilepsy. Here we review the recent model systems that are revealing the molecular and cellular pathophysiological mechanisms mediating FD. These powerful model systems can now be used to test targeted therapeutics for mitigating neuronal loss in FD and potentially other disorders.
Indexed as
Identifiers
What OpenQuestion holds
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.