| 词条 | MuSK protein |
| 释义 |
| Name = muscle, skeletal, receptor tyrosine kinase | caption = | image = MuSKtkd.PNG | width = | HGNCid = 7525 | Symbol = MUSK | AltSymbols = | EntrezGene = 4593 | OMIM = 601296 | RefSeq = NM_005592 | UniProt = O15146 | PDB = | ECnumber = | Chromosome = 9 | Arm = q | Band = 31.3 | LocusSupplementaryData =-q32 }} MuSK (for Muscle-Specific Kinase) is a receptor tyrosine kinase required for the formation and maintenance of the neuromuscular junction. It is activated by a nerve-derived proteoglycan called agrin. MuSK signalingUpon activation by its ligand agrin, MuSK signals via the proteins called casein kinase 2 (CK2),[1] Dok-7[2] and rapsyn, to induce "clustering" of acetylcholine receptors (AChR). Both CK2 and Dok-7 are required for MuSK-induced formation of the neuromuscular junction, since mice lacking Dok-7 failed to form AChR clusters or neuromuscular synapses, and since downregulation of CK2 also impedes recruitment of AChR to the primary MuSK scaffold. In addition to the proteins mentioned, other proteins are then gathered, to form the endplate to the neuromuscular junction. The nerve terminates onto the endplate, forming the neuromuscular junction - a structure required to transmit nerve impulses to the muscle, and thus initiating muscle contraction. Role in diseaseAntibodies directed against this protein (Anti-MuSK autoantibodies) are found in those patients with myasthenia gravis not demonstrating antibodies to the acetylcholine receptor (sero-negative).[3] The disease still appears to result in an autoimmune loss of acetylcholine receptor activity,[4] but the phenotype of these patients appears to be different from those of many other myasthenic patients: more likely women, less eye involvement, more likely to have weakness of neck and oropharynx, and more likely to be African-American in ethnicity. References1. ^{{cite journal | vauthors = Cheusova T, Khan MA, Schubert SW, Gavin AC, Buchou T, Jacob G, Sticht H, Allende J, Boldyreff B, Brenner HR, Hashemolhosseini S | title = Casein kinase 2-dependent serine phosphorylation of MuSK regulates acetylcholine receptor aggregation at the neuromuscular junction | journal = Genes & Development | volume = 20 | issue = 13 | pages = 1800–16 | date = Jul 2006 | pmid = 16818610 | pmc = 1522076 | doi = 10.1101/gad.375206 }} {{Tyrosine kinases}}{{Enzymes}}{{Portal bar|Molecular and Cellular Biology|border=no}}2. ^{{cite journal | vauthors = Okada K, Inoue A, Okada M, Murata Y, Kakuta S, Jigami T, Kubo S, Shiraishi H, Eguchi K, Motomura M, Akiyama T, Iwakura Y, Higuchi O, Yamanashi Y | title = The muscle protein Dok-7 is essential for neuromuscular synaptogenesis | journal = Science | volume = 312 | issue = 5781 | pages = 1802–5 | date = Jun 2006 | pmid = 16794080 | doi = 10.1126/science.1127142 | url = http://www.sciencemag.org/cgi/content/abstract/312/5781/1802 }} 3. ^{{cite journal | vauthors = Hoch W, McConville J, Helms S, Newsom-Davis J, Melms A, Vincent A | title = Auto-antibodies to the receptor tyrosine kinase MuSK in patients with myasthenia gravis without acetylcholine receptor antibodies | journal = Nature Medicine | volume = 7 | issue = 3 | pages = 365–8 | date = Mar 2001 | pmid = 11231638 | doi = 10.1038/85520 }} 4. ^{{cite journal | vauthors = Barrett-Jolley R, Byrne N, Vincent A, Newsom-Davis J | title = Plasma from patients with seronegative myasthenia gravis inhibit nAChR responses in the TE671/RD cell line | journal = Pflügers Archiv | volume = 428 | issue = 5-6 | pages = 492–8 | date = Oct 1994 | pmid = 7838671 | doi = 10.1007/BF00374570 }} 3 : Tyrosine kinase receptors|Developmental neuroscience|Proteins |
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