Distinct phenotypes of mutant mice lacking agrin, MuSK, or rapsyn

Gautam, Medha; DeChiara, Thomas M.; Glass, David J.; Yancopouloš, George D.; Sanes, Joshua R.

doi:10.1016/s0165-3806(99)00013-9

Cited by 89 publications

(69 citation statements)

References 35 publications

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“…Agrn Agrin Null allele: embryonic lethal; reduced number, size, and density of postsynaptic acetylcholine receptor aggregates in muscles; abnormal intramuscular nerve branching and presynaptic differentiation (Gautam et al 1996(Gautam et al ,1999; smaller brains (Serpinskaya et al 1999); abnormal development of interneuronal synapses (Gingras et al 2007); increased resistance to excitotoxic injury (Hilgenberg et al 2002); reduced number of cortical presynaptic and postsynaptic specializations (Ksiazek et al 2007). Floxed allele: Inactivation in podocytes does not affect glomerular charge selectivity or glomerular architecture (Harvey et al 2007).…”

Section: Prg1mentioning

confidence: 99%

Heparan Sulfate Proteoglycans

Sarrazin¹,

Lamanna²,

Esko

2011

Cold Spring Harbor Perspectives in Biology

1,223

1,238

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Section: Prg1mentioning

confidence: 99%

Heparan Sulfate Proteoglycans

Sarrazin¹,

Lamanna²,

Esko

2011

Cold Spring Harbor Perspectives in Biology

1,223

1,238

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“…As development proceeds, muscle specific receptor tyrosine kinase (MuSK) and rapsyn (receptor-associated protein of the synapse) are essential for clustering and localization of nAChRs at the developing NMJ (Apel et al, 1997;Lin et al, 2001;Sanes et al, 1998). The 43-kDa peripheral membrane protein rapsyn was isolated by virtue of its tight association with the AChR (Colledge and Froehner, 1998;Gautam et al, 1999). Studies using rapsyn fragments and mutations, expressed in HEK293T cells along with muscle nAChRs, have established that the rapsyn coiled-coiled domain is necessary for nAChR clustering (Bartoli et al, 2001;Ramarao et al, 2001).…”

Section: Introductionmentioning

confidence: 99%

Muscle-like nicotinic receptor accessory molecules in sensory hair cells of the inner ear

Osman

Schrader

Hawkes

et al. 2008

Molecular and Cellular Neuroscience

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Nothing is known about the regulation of nicotinic acetylcholine receptors (nAChRs) in hair cells of the inner ear. MuSK, rapsyn and RIC-3 are accessory molecules associated with muscle and brain nAChR function. We demonstrate that these accessory molecules are expressed in the inner ear raising the possibility of a muscle-like mechanism for clustering and assembly of nAChRs in hair cells. We focused our investigations on rapsyn and RIC-3. Rapsyn interacts with the cytoplasmic loop of nAChR α9 subunits but not nAChR α10 subunits. Although rapsyn and RIC-3 increase nAChR α9 expression, rapsyn plays a greater role in receptor clustering while RIC-3 is important for acetylcholine-induced calcium responses. Our data suggest that RIC-3 facilitates receptor function, while rapsyn enhances receptor clustering at the cell surface.

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“…Most genetic studies on the role of MuSK have focused on selected groups of rodent muscle, mainly the diaphragm, which display focal innervation patterns (9,20). MuSK homologs have been identified in several nonmammalian vertebrates in which nonfocal innervation is more prevalent (21)(22)(23)(24), but there are no genetic studies addressing whether the MuSK pathway is involved in the formation of nonfocal patterns of innervation.…”

mentioning

confidence: 99%

Differential requirement for MuSK and dystroglycan in generating patterns of neuromuscular innervation

Lefebvre

Jing

Becaficco

et al. 2007

Proc. Natl. Acad. Sci. U.S.A.

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Vertebrates display diverse patterns of neuromuscular innervation, but little is known about how such diversity is generated. In mammals, neuromuscular junctions form predominantly at equatorial locations, giving rise to a focal innervation pattern along a central endplate band. In addition, vertebrate striated muscles exhibit two nonfocal neuromuscular patterns, myoseptal and distributed innervation. Although agrin-MuSK-rapsyn signaling is essential for the focal innervation pattern, it is unknown whether the same genetic program also controls synaptogenesis at nonfocal innervation sites. Here we show that one of three transcripts generated by the zebrafish unplugged locus, unplugged FL, encodes the zebrafish MuSK ortholog. We demonstrate that UnpFL/ MuSK is critical for the assembly of focal synapses in zebrafish and that it cooperates with dystroglycan in the formation of nonfocal myoseptal and distributed synapses. Our results provide the first genetic evidence that neuromuscular synapse formation can occur in the absence of MuSK and that the combinatorial function of UnpFL/MuSK and dystroglycan generates diverse patterns of vertebrate neuromuscular innervation.muscle-specific kinase ͉ neuromuscular junction ͉ synaptogenesis

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Distinct phenotypes of mutant mice lacking agrin, MuSK, or rapsyn

Cited by 89 publications

References 35 publications

Heparan Sulfate Proteoglycans

Heparan Sulfate Proteoglycans

Muscle-like nicotinic receptor accessory molecules in sensory hair cells of the inner ear

Differential requirement for MuSK and dystroglycan in generating patterns of neuromuscular innervation

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