Molecular mechanisms underlying the formation of neuromuscular junction

Brain and Nerve

Volumn 63, Issue 7, 2011, Pages 649-655

  Higuchi, Osamu ^a,b   Yamanashi, Yuji ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b Nagasaki Kawatana Medical Center   (Japan)

Author keywords

Acetylcholine receptor (AChR); Cyclin dependent kinase 5 (Cdk5); Dok 7; LDL receptor related protein 4 (Lrp4); Neuromuscular junction (NMJ)

Indexed keywords

ACETYLCHOLINE; AGRIN; CHOLINERGIC RECEPTOR; CYCLIN DEPENDENT KINASE 5; DOK 7 PROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 4; MUSCLE SPECIFIC RECEPTOR TYROSINE KINASE; PROTEIN TYROSINE KINASE; UNCLASSIFIED DRUG;

CONGENITAL MYASTHENIC SYNDROME; MOLECULAR GENETICS; MUSCLE; MYASTHENIA GRAVIS; NERVE ENDING; NEUROMUSCULAR SYNAPSE; NEUROMUSCULAR TRANSMISSION; NONHUMAN; REVIEW; SKELETAL MUSCLE; VERTEBRATE;

ANIMALS; CYCLIN-DEPENDENT KINASE 5; HUMANS; LDL-RECEPTOR RELATED PROTEINS; MUSCLE PROTEINS; MYASTHENIC SYNDROMES, CONGENITAL; NEUROMUSCULAR JUNCTION;

EID: 79960737889     PISSN: 18816096     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (29)

1. Sanes JR, Lichtman JW: Induction, assembly, maturation and maintenance of a postsynaptic apparatus. Nat Rev Neurosci 2: 791-805, 2001 (Pubitemid 33674061)
2. McMahan UJ: The agrin hypothesis. Cold Spring Harbor Symp Quant Biol 55: 407-418, 1990
3. Kummer TT, Misgeld T, Lichtman JW, Sanes JR: Nerve-independent formation of a topologically complex postsynaptic apparatus. J Cell Biol 164: 1077-1087, 2004
4. Glass DJ, Bowen DC, Stitt TN, Radziejewski C, Bruno J, et al: Agrin acts via a MuSK receptor complex. Cell 85: 513-523, 1996 (Pubitemid 26157190)
5. DeChiara TM, Bowen DC, Valenzuela DM, Simmons MV, Poueymirou WT, et al: The receptor tyrosine kinase MuSK is required for neuromuscular junction formation in vivo. Cell 85: 501-512, 1996 (Pubitemid 26157189)
6. Herbst R, Burden SJ: The juxtamembrane region of MuSK has a critical role in agrin-mediated signaling. EMBO J 19: 67-77, 2000 (Pubitemid 30009226)
7. Yaffe MB: Phosphotyrosine-binding domains in signal transduction. Nat Rev Mol Biol 3: 177-186, 2002
8. Herbst R, Avetisova E, Burden SJ: Restoration of synapse formation in Musk mutant mice expressing a Musk/Trk chimeric receptor. Development 129: 5449-5460, 2002
9. Okada K, Inoue A, Okada M, Murata Y, Kakuta S, et al: The muscle protein Dok-7 is essential for neuromuscular synaptogenesis. Science 312: 1802-1805, 2006
10. Mashima R, Hishida Y, Tezuka T, Yamanashi Y: The roles of Dok family adapters in immunoreceptor signaling. Immunol Rev 232: 273-285, 2009
11. Inoue A, Setoguchi K, Matsubara Y, Okada K, Sato N, et al: Dok-7 activates the muscle receptor kinase MuSK and shapes synapse formation. Sci Signal 2: ra7, 2009
12. Kummer TT, Misgeld T, Sanes JR: Assembly of the postsynaptic membrane at the neuromuscular junction: paradigm lost. Curr Opin Neurobiol 16: 74-82, 2006 (Pubitemid 43221856)
13. Beeson D, Higuchi O, Palace J, Cossins J, Spearman H, et al: Dok-7 mutations underlie a neuromuscular junction synaptopathy. Science 313: 1975-1978, 2006
14. Palace J, Lahsley D, Newsom-Davis J, Cossins J, Maxwell S, et al: Clinical features of the DOK7 neuromuscular junction synaptopathy. Brain 130: 1507-1515, 2007
15. Muller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, et al: Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain 130: 497-506, 2007
16. Anderson JA, Ng JJ, Bowe C, McDonald C, Richman DP, et al: Variable phenotypes associated with mutations in DOK7. Muscle Nerve 37: 448-456, 2008 (Pubitemid 351501970)
17. Selcen D, Milone M, Shen XM, Harper CM, Stans AA, et al: Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. Ann Neurol 64: 71-87, 2008
18. Vogt J, Morgan NV, Marton T, Maxwell S, Harrison BJ, et al: Germline mutation in DOK7 associated with fetal akinesia deformation sequence. J Med Genet 46: 338-340, 2009
19. Srour M, Bolduc V, Guergueltcheva V, Lochmüller H, Gendron D, et al: DOK7 mutations presenting as a proximal myopathy in French Canadians. Neuromuscul Disord 20: 453-457, 2010
20. Mihaylova V, Scola RH, Gervini B, Lorenzoni PJ, Kay CK, et al: Molecular characterisation of congenital myasthenic syndromes in Southern Brazil. J Neurol Neurosurg Psychiatry 81: 973-977, 2010
21. Ben Ammar A, Petit F, Alexandri N, Gaudon K, Bauché S, et al: Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. J Neurol 257: 754-766, 2010
22. Maselli RA, Arredondo J, Cagney O, Ng JJ, Anderson JA, et al: Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction. Hum Mol Genet 19: 2370-2379, 2010
23. Hamuro J, Higuchi O, Okada K, Ueno M, Iemura S, et al: Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7. J Biol Chem 283: 5518-5524, 2008
24. Weatherbee SD, Anderson KV, Niswander LA: LDL-receptor-related protein 4 is crucial for formation of the neuromuscular junction. Development 133: 4993-5000, 2006
25. Kim N, Stiegler AL, Cameron TO, Hallock PT, Gomez AM, et al: Lrp4 is a receptor for Agrin and forms a complex with MuSK. Cell 135: 334-342, 2008
26. Zhang B, Luo S, Wang Q, Suzuki T, Xiong WC, Mei L. LRP4 serves as a coreceptor of agrin. Neuron 60: 285-297, 2008
27. Higuchi O, Hamuro J, Motomura M, Yamanashi Y: Autoantibodies to low-density lipoprotein receptor-related protein 4 in myasthenia gravis. Ann Neurol 69: 418-422, 2011
28. Lin W, Dominguez B, Yang J, Aryal P, Brandon EP, et al: Neurotransmitter acetylcholine negatively regulates neuromuscular synapse formation by a Cdk5-dependent mechanism. Neuron 46: 569-579, 2005 (Pubitemid 40797382)
29. Misgeld T, Kummer TT, Lichtman JW, Sanes JR: Agrin promotes synaptic differentiation by counter-acting an inhibitory effect of neurotransmitter. Proc Natl Acad Sci U S A 102: 11088-11093, 2005 (Pubitemid 41105997)