Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome

American Journal of Human Genetics

Volumn 70, Issue 4, 2002, Pages 875-885

  Ohno, Kinji ^a   Engel, Andrew G ^a   Shen, Xin Ming ^a   Selcen, Duygu ^a   Brengman, Joan ^a   Harper, C Michel ^a   Tsujino, Akira ^a   Milone, Margherita ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINERGIC RECEPTOR; GENE PRODUCT; RAPSYN; RECEPTOR SUBUNIT;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CELL LINE; CONTROLLED STUDY; EATON LAMBERT SYNDROME; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; POSTSYNAPTIC MEMBRANE; PRESCHOOL CHILD; PRESYNAPTIC POTENTIAL; PRIORITY JOURNAL; RECEPTOR BINDING; SYNAPTIC POTENTIAL;

EID: 0036206747     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/339465     Document Type: Article

References (58)

1. Absence of α-syntrophin leads to structurally aberrant neuromuscular synapses deficient in utrophin
2. Heregulin-stimulated acetylcholine receptor gene expression in muscle: Requirement for MAP kinase and evidence for parallel inhibitory pathway independent electrical activity
3. Rapsyn is required for MuSK signaling and recruits synaptic components to a MuSK-containing scaffold
4. Rapsyn may function as a link between the acetylcholine receptor and the agrin-binding dystrophin-associated glycoprotein complex
5. Identification of the modular domains of rapsyn binding to nicotinic acetylcholine receptor (AChR) and to dystroglycan
6. Interactions of the rapsyn RING-H2 domain with dystroglycan
7. Neuromuscular junction disassembly and muscle fatigue in mice lacking neurotrophin-4
8. Cloning of the cDNA encoding human rapsyn and mapping the RAPSN gene locus to chromosome 11p11.2-p11.1
9. Alternatively spliced isoforms of nerve- and muscle-derived agrin: Their roles at the neuromuscular junction
10. Chick ciliary ganglion neurons contain transcripts coding for the acetylcholine receptor-associated protein at synapses (rapsyn)
11. Evidence for in situ and in vitro association between β-dystroglycan and the subsynaptic 43K rapsyn protein. Consequence for acetylcholine receptor clustering at the synapse
12. Mutation in the human acetylcholinesterase-associated gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency
13. The investigation of congenital myasthenic syndromes
14. The muscle biopsy
15. Quantitative morphological studies of muscle
16. Ultrastructural localization of the acetylcholine receptor in myasthenia gravis and in its experimental autoimmune model
17. Congenital myasthenic syndromes. I. Deficiency and short open-time of the acetylcholine receptor
18. End-plate acetylcholine receptor deficiency due to nonsense mutations in the ε subunit
19. Congenital myasthenic syndromes
20. Acetylcholinesterase of human erythrocytes and neuromuscular junctions: Homologies revealed by monoclonal antibodies
21. Identification of the mouse muscle 43,000-dalton acetylcholine receptor-associated protein (RAPsyn) by cDNA cloning
22. cDNAs for the postsynaptic 43-kDa protein of Torpedo electric organ encode two proteins with different carboxyl termini
23. Nonsense-mediated mRNA decay in health and disease
24. Expression of RNA transcripts for the postsynaptic 43 kDa protein in denervated rat skeletal muscle
25. The postsynaptic 43K protein clusters muscle nicotinic acetylcholine receptors in Xenopus oocytes
26. Defective neuromuscular synaptogenesis in agrin-deficient mutant mice
27. Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsyn-deficient mice
28. Agrin acts via MuSK receptor complex
29. Disruption of Trkb-mediated signaling induces disassembly of potsynaptic receptor clusters at neuromuscular junctions
30. Subtle neuromuscular defects in utrophin-deficient mice
31. An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs
32. A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671
33. Interaction of the 43 kd postsynaptic protein with all subunits of the muscle nicotinic acetylcholine receptor
34. The intracellular domain of the nicotinic acetylcholine receptor a subunit mediates its coclustering with rapsyn
35. Amplification of neuromuscular transmission by p̀ostjunctional folds
36. Slow-channel syndrome caused by enhanced activation, desensitization, and agonist binding affinity due to mutation in the M2 domain of the acetylcholine receptor alpha subunit
37. Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor ε subunit
38. Tripartite management of unfolded proteins in the endoplasmic reticulum
39. A novel mechanism for modulating synaptic gene expression: Differential localization of α-dystrobrevin transcripts in skeletal muscle
40. Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme
41. Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the ε subunit
42. Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor ε subunit gene: Identification and functional characterization of six new mutations
43. Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans
44. Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor ε subunit
45. A mutation in zebrafish rapsyn disrupts ACh receptor clustering and promotes synaptic depression
46. ACh-rich receptor membrane domains organized in fibroblasts by recombinant 43-kilodalton protein
47. Mutation causing congenital myasthenia reveals acetylcholine receptor β/δ subunit interaction essential for assembly
48. Role of rapsyn tetratrichopeptide repeat and coiled-coil domains in self-association and nicotinic acetylcholine receptor clustering
49. Mechanism of nicotinic acetylcholine receptor cluster formation by rapsyn
50. + current amplitude and excitability near and far from the end-plate
51. Maintenance of acetylcholine receptor number by neuregulins at the neuromuscular junction in vivo
52. The human medulloblastoma cell line TE671 expresses a muscle-like acetylcholine receptor. Cloning of the alpha-subunit cDNA
53. Induction of acetylcholine receptor gene expression by ARIA requires activation of mitogen-activated protein kinase
54. Mutation of the acetylcholine receptor a subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity
55. Src, Fyn, and Yes are not required for neuromuscular synapse formation but are necessary for stabilization of agrin-induced clusters of acetylcholine receptors
56. A synaptic isoform of NRAP interacts with the postsynaptic 43K protein rapsyn and links it to the cytoskeleton at the neuromuscular junction
57. Congenital myasthenic syndromes. II. A syndrome attributed to abnormal interaction of acetylcholine with its receptor
58. The contribution of the postsynaptic folds to the safety factor for neuromuscular transmission in rat fast- and slow-twitch fibers