Rapsyn Mutations in Humans Cause Endplate Acetylcholine-Receptor Deficiency and Myasthenic Syndrome

An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs

1987 • 5,139 citations

Nonsense-mediated mRNA decayin health and disease

1999 • 974 citations

Tripartite Management of Unfolded Proteins in the Endoplasmic Reticulum

2000 • 917 citations

Defective Neuromuscular Synaptogenesis in Agrin-Deficient Mutant Mice

1996 • 915 citations

Agrin Acts via a MuSK Receptor Complex

1996 • 653 citations

Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsyn-deficient mice

1995 • 530 citations

Maintenance of Acetylcholine Receptor Number by Neuregulins at the Neuromuscular Junction in Vivo

1997 • 272 citations

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans

2001 • 265 citations

Mutation of the acetylcholine receptor α subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity

1995 • 263 citations

Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.

1995 • 252 citations

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme

1998 • 249 citations

Ultrastructural localization of the acetylcholine receptor in myasthenia gravis and in its experimental autoimmune model

1977 • 244 citations

Rapsyn Is Required for MuSK Signaling and Recruits Synaptic Components to a MuSK-Containing Scaffold

1997 • 243 citations

The postsynaptic 43k protein clusters muscle nicotinic acetylcholine receptors in xenopus oocytes

1990 • 237 citations

Alternatively Spliced Isoforms of Nerve- and Muscle-Derived Agrin

1999 • 236 citations

Congenital Myasthenic Syndrome Caused by Decreased Agonist Binding Affinity Due to a Mutation in the Acetylcholine Receptor ε Subunit

1996 • 234 citations

Absence of α-Syntrophin Leads to Structurally Aberrant Neuromuscular Synapses Deficient in Utrophin

2000 • 223 citations

Disruption of TrkB-Mediated Signaling Induces Disassembly of Postsynaptic Receptor Clusters at Neuromuscular Junctions

1999 • 221 citations

Subtle Neuromuscular Defects in Utrophin-deficient Mice

1997 • 216 citations

Rapsyn may function as a link between the acetylcholine receptor and the agrin-binding dystrophin-associated glycoprotein complex

1995 • 209 citations

ACh Receptor-Rich Membrane Domains Organized in Fibroblasts by Recombinant 43-Kilodalton Protein

1991 • 202 citations

A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671

1989 • 186 citations

Mutation in the Human Acetylcholinesterase-Associated Collagen Gene, COLQ, Is Responsible for Congenital Myasthenic Syndrome with End-Plate Acetylcholinesterase Deficiency (Type Ic)

1998 • 161 citations

The contribution of postsynaptic folds to the safety factor for neuromuscular transmission in rat fast‐ and slow‐twitch muscles.

1997 • 161 citations

Congenital Myasthenic Syndromes due to Heteroallelic Nonsense/Missense Mutations in the Acetylcholine Receptor Subunit Gene: Identification and Functional Characterization of Six New Mutations

1997 • 158 citations

Acetylcholinesterase of human erythrocytes and neuromuscular junctions: homologies revealed by monoclonal antibodies.

1982 • 154 citations

Mechanism of nicotinic acetylcholine receptor cluster formation by rapsyn

1998 • 153 citations

End‐plate acetylcholine receptor deficiency due to nonsense mutations in the ε subunit

1996 • 150 citations

Evidence for in Situ and in VitroAssociation between β-Dystroglycan and the Subsynaptic 43K Rapsyn Protein

1998 • 144 citations

Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit.

1997 • 135 citations

Heregulin-stimulated acetylcholine receptor gene expression in muscle: requirement for MAP kinase and evidence for a parallel inhibitory pathway independent of electrical activity

1997 • 130 citations

Role of Rapsyn Tetratricopeptide Repeat and Coiled-coil Domains in Self-association and Nicotinic Acetylcholine Receptor Clustering

2001 • 122 citations

Slow-Channel Myasthenic Syndrome Caused By Enhanced Activation, Desensitization, and Agonist Binding Affinity Attributable to Mutation in the M2 Domain of the Acetylcholine Receptor α Subunit

1997 • 122 citations

Mode Switching Kinetics Produced by a Naturally Occurring Mutation in the Cytoplasmic Loop of the Human Acetylcholine Receptor ε Subunit

1998 • 114 citations

The human medulloblastoma cell line TE671 expresses a muscle‐like acetylcholine receptor Cloning of the α‐subunit cDNA

1988 • 110 citations

Interaction of the 43 kd postsynaptic protein with all subunits of the muscle nicotinic acetylcholine receptor

1993 • 106 citations

Interactions of the Rapsyn RING-H2 Domain with Dystroglycan

2001 • 104 citations

Induction of Acetylcholine Receptor Gene Expression by ARIA Requires Activation of Mitogen-activated Protein Kinase

1996 • 103 citations

Src, Fyn, and Yes Are Not Required for Neuromuscular Synapse Formation But Are Necessary for Stabilization of Agrin-Induced Clusters of Acetylcholine Receptors

2001 • 101 citations

Neuromuscular Junction Disassembly and Muscle Fatigue in Mice Lacking Neurotrophin-4

2001 • 99 citations

Identification of the mouse muscle 43,000-dalton acetylcholine receptor-associated protein (RAPsyn) by cDNA cloning.

1988 • 98 citations

Myasthenia Gravis and Myasthenic Disorders

2012 • 95 citations

Mutation causing congenital myasthenia reveals acetylcholine receptor β/δ subunit interaction essential for assembly

1999 • 81 citations

Amplification of neuromuscular transmission by postjunctional folds

1994 • 74 citations

The muscle biopsy.

1968 • 71 citations

Congenital myasthenic syndromes: II. Syndrome attributed to abnormal interaction of acetylcholine with its receptor

1993 • 70 citations

Congenital myasthenic syndromes: I. Deficiency and short open‐time of the acetylcholine receptor

1993 • 70 citations

Congenital Myasthenic Syndromes

2005 • 61 citations

The Investigation of Congenital Myasthenic Syndromesa

1993 • 51 citations

cDNAs for the postsynaptic 43-kDa protein of Torpedo electric organ encode two proteins with different carboxyl termini.

1987 • 45 citations

Myasthenia Gravis and Myasthenic Disorders

2000 • 40 citations

Chick Ciliary Ganglion Neurons Contain Transcripts Coding for Acetylcholine Receptor-Associated Protein at Synapses (Rapsyn)

1997 • 34 citations

A Novel Mechanism for Modulating Synaptic Gene Expression: Differential Localization of α-Dystrobrevin Transcripts in Skeletal Muscle

2001 • 34 citations

The Intracellular Domain of the Nicotinic Acetylcholine Receptor α Subunit Mediates Its Coclustering with Rapsyn

1999 • 32 citations

Expression of RNA transcripts for the postsynaptic 43 kDa protein in innervated and denervated rat skeletal muscle

1989 • 29 citations

Effects of length changes on Na+ current amplitude and excitability near and far from the end-plate

1996 • 23 citations

Cloning of cDNA Encoding Human Rapsyn and Mapping of the RAPSN Gene Locus to Chromosome 11p11.2–p11.1

1996 • 18 citations