ArticleThe Journal of clinical investigation1999
Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly.
Article in The Journal of clinical investigation, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 78 citations in OpenAlex.
- Congenital myasthenic syndrome type 2C in a neonate: Redefining the phenotype ofAnnals of the Child Neurology Society · 2023Article
- Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature.Journal of personalized medicine · 2023Review
- Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.Journal of medical genetics · 2021Article
- An Inside Job: Molecular Determinants for Postsynaptic Localization of Nicotinic Acetylcholine Receptors.Molecules (Basel, Switzerland) · 2021Review
- Effect of Inhibiting p38 on HuR Involving in β-AChR Post-transcriptional Mechanisms in Denervated Skeletal Muscle.Cellular and molecular neurobiology · 2019Article
- TruncatingNeurology. Genetics · 2018Article
- HuR Mediates Changes in the Stability of AChR β-Subunit mRNAs after Skeletal Muscle Denervation.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2015Article
- Defective presynaptic choline transport underlies hereditary motor neuropathy.American journal of human genetics · 2012Article
- Current status of the congenital myasthenic syndromes.Neuromuscular disorders : NMD · 2012Review
- Identification of neuromuscular junctions by correlative confocal and transmission electron microscopy.Journal of neuroscience methods · 2010Article
- Rapsyn interacts with the muscle acetylcholine receptor via alpha-helical domains in the alpha, beta, and epsilon subunit intracellular loops.Neuroscience · 2009Article
- hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome.Human molecular genetics · 2008Article
- A conserved Cys-loop receptor aspartate residue in the M3-M4 cytoplasmic loop is required for GABAA receptor assembly.The Journal of biological chemistry · 2008Article
- Functional contribution of alpha3L8' to the neuronal nicotinic alpha3 receptor.Journal of neuroscience research · 2008Article
- Association of the gene encoding the delta-subunit of the muscle acetylcholine receptor (CHRND) with acquired autoimmune myasthenia gravis.Genes and immunity · 2004Article
- Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.The Journal of clinical investigation · 2003Article
- Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.American journal of human genetics · 2002Article
- Congenital myasthenic syndromes: genetic defects of the neuromuscular junction.Current neurology and neuroscience reports · 2002Review
- Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.The Journal of clinical investigation · 2001Article
- Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions.Journal of neuromuscular diseasesReview
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
We describe a severe postsynaptic congenital myasthenic syndrome with marked endplate acetylcholine receptor (AChR) deficiency caused by 2 heteroallelic mutations in the beta subunit gene. One mutation causes skipping of exon 8, truncating the beta subunit before its M1 transmembrane domain, and abolishing surface expression of pentameric AChR. The other mutation, a 3-codon deletion (beta426delEQE) in the long cytoplasmic loop between the M3 and M4 domains, curtails but does not abolish expression. By coexpressing beta426delEQE with combinations of wild-type subunits in 293 HEK cells, we demonstrate that beta426delEQE impairs AChR assembly by disrupting a specific interaction between beta and delta subunits. Studies with related deletion and missense mutants indicate that secondary structure in this region of the beta subunit is crucial for interaction with the delta subunit. The findings imply that the mutated residues are positioned at the interface between beta and delta subunits and demonstrate contribution of this local region of the long cytoplasmic loop to AChR assembly.
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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.