ArticleHuman molecular genetics2019
Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome.
Article in Human molecular genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06630650 (A Single Center Prospective Natural History and Outcome Measure Validation Study of Congenital Myasthenic Syndromes), which is not on this map. Cited by 29 papers, 2 of them syntheses that pooled it.
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.
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.
A Single Center Prospective Natural History and Outcome Measure Validation Study of Congenital Myasthenic Syndromes
Who cites it
29 citing papers in PubMed, 2 syntheses or guidelines pooled it, 44 citations in OpenAlex.
- Pharmacological Treatments for Congenital Myasthenic Syndromes Caused byCurrent neuropharmacology · 2023Pooled it
- Pharmacological Strategy for Congenital Myasthenic Syndrome with CHRNE Mutations: A Meta-Analysis of Case Reports.Current neuropharmacology · 2021Pooled it
- Adult-onset PLEC-related congenital myasthenic syndrome-myopathy overlap with upper limb predominant weakness.Neurogenetics · 2026Article
- Gene-specific response to muscle specific kinase agonist antibody in the treatment of congenital myasthenic syndromes.Brain communications · 2026Article
- Galactose treatment rescues neuromuscular junction transmission in glutamine-fructose-6-phosphate transaminase 1 (Gfpt1) deficient mice.Human molecular genetics · 2025Article
- Adrenergic Modulation of Acetylcholine Release at the Mouse Neuromuscular Junctions of Fast-Twitch Skeletal Muscle.Neurochemical research · 2025Review
- An α7 nicotinic and GABAThe Journal of physiology · 2025Article
- Sympathetic signals beneath the surface: fresh insights from skin and muscle.Frontiers in neuroscience · 2025Review
- Alx3 deficiency disrupts energy homeostasis, alters body composition, and impairs hypothalamic regulation of food intake.Cellular and molecular life sciences : CMLS · 2024Article
- Salbutamol repurposing ameliorates neuromuscular junction defects and muscle atrophy in Col6a1Clinical and translational medicine · 2024Article
- The Mechanism of α2 adrenoreceptor-dependent Modulation of Neurotransmitter Release at the Neuromuscular Junctions.Neurochemical research · 2024Article
- Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment.Journal of neurology · 2023Article
- Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease.International journal of molecular sciences · 2023Review
- A Pediatric Case ofChildren (Basel, Switzerland) · 2023Article
- TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.Nature communications · 2023Article
- Sympathetic neuropathology is revealed in muscles affected by amyotrophic lateral sclerosis.Frontiers in physiology · 2023Article
- "Calcium bombs" as harbingers of synaptic pathology and their mitigation by magnesium at murine neuromuscular junctions.Frontiers in molecular neuroscience · 2022Article
- Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings.Frontiers in neurology · 2022Article
- Adrenoceptors Modulate Cholinergic Synaptic Transmission at the Neuromuscular Junction.International journal of molecular sciences · 2021Review
- Mechanisms of Congenital Myasthenia Caused by Three Mutations in theFrontiers in pediatrics · 2021Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 4 countries.
Funding
Abstract
The β-adrenergic agonists salbutamol and ephedrine have proven to be effective as therapies for human disorders of the neuromuscular junction, in particular many subsets of congenital myasthenic syndromes. However, the mechanisms underlying this clinical benefit are unknown and improved understanding of the effect of adrenergic signalling on the neuromuscular junction is essential to facilitate the development of more targeted therapies. Here, we investigated the effect of salbutamol treatment on the neuromuscular junction in the ColQ deficient mouse, a model of end-plate acetylcholinesterase deficiency. ColQ-/- mice received 7 weeks of daily salbutamol injection, and the effect on muscle strength and neuromuscular junction morphology was analysed. We show that salbutamol leads to a gradual improvement in muscle strength in ColQ-/- mice. In addition, the neuromuscular junctions of salbutamol treated mice showed significant improvements in several postsynaptic morphological defects, including increased synaptic area, acetylcholine receptor area and density, and extent of postjunctional folds. These changes occurred without alterations in skeletal muscle fibre size or type. These findings suggest that β-adrenergic agonists lead to functional benefit in the ColQ-/- mouse and to long-term structural changes at the neuromuscular junction. These effects are primarily at the postsynaptic membrane and may lead to enhanced neuromuscular transmission.
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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.