ReviewThe American journal of pathology2016
Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.
Review in The American journal of pathology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 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
22 citing papers in PubMed, 32 citations in OpenAlex.
- Hormonal Imbalance as a Prognostic Factor of Physical Development of Children with Intellectual Disability.Children (Basel, Switzerland) · 2024Article
- Osteoporosis under psychological stress: mechanisms and therapeutics.Life medicine · 2024Review
- Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.Scientific reports · 2024Article
- Current understanding of the molecular mechanisms of chemotherapy-induced peripheral neuropathy.Frontiers in molecular neuroscience · 2024Review
- Human TrkAR649W mutation impairs nociception, sweating and cognitive abilities: a mouse model of HSAN IV.Human molecular genetics · 2023Article
- 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
- 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
- Elongator promotes neuritogenesisFrontiers in cell and developmental biology · 2022Article
- The sympathetic nervous system in development and disease.Nature reviews. Neuroscience · 2021Review
- Retrograde nerve growth factor signaling abnormalities and the pathogenesis of familial dysautonomia.Neural regeneration research · 2021Article
- Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing.Neurology. Genetics · 2021Article
- Development of the Autonomic Nervous System: Clinical Implications.Seminars in neurology · 2020Review
- Retrograde nerve growth factor signaling abnormalities in familial dysautonomia.The Journal of clinical investigation · 2020Article
- (H)Elping nerve growth factor: Elp1 inhibits TrkA's phosphatase to maintain retrograde signaling.The Journal of clinical investigation · 2020Article
- Chemotherapy-Induced Peripheral Neuropathy and Changes in Cytoskeleton.International journal of molecular sciences · 2019Review
- ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.American journal of human genetics · 2019Article
- Retina-specific loss ofDisease models & mechanisms · 2018Article
- Animal and cellular models of familial dysautonomia.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2017Review
- The familial dysautonomia disease geneDisease models & mechanisms · 2017Article
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1 author at 1 institution in 1 country.
Funding
Abstract
Peripheral neuropathies are highly prevalent and are most often associated with chronic disease, side effects from chemotherapy, or toxic-metabolic abnormalities. Neuropathies are less commonly caused by genetic mutations, but studies of the normal function of mutated proteins have identified particular vulnerabilities that often implicate mitochondrial dynamics and axon transport mechanisms. Hereditary sensory and autonomic neuropathies are a group of phenotypically related diseases caused by monogenic mutations that primarily affect sympathetic and sensory neurons. Here, I review evidence to indicate that many genetic neuropathies are caused by abnormalities in axon transport. Moreover, in hereditary sensory and autonomic neuropathies. There may be specific convergence on gene mutations that disrupt nerve growth factor signaling, upon which sympathetic and sensory neurons critically depend.
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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.