SnapShot: Neuromuscular Junction | Zendy

Steven J. Burden | Zendy

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SnapShot: Neuromuscular Junction

Author(s) -

Steven J. Burden

Publication year - 2011

Publication title -

cell

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 26.304

H-Index - 776

eISSN - 1097-4172

pISSN - 0092-8674

DOI - 10.1016/j.cell.2011.02.037

Subject(s) - biology , snapshot (computer storage) , neuromuscular junction , neuroscience , computer science , operating system

Agrin MuSK Dok-7Rapsyn AChR AChE ChAT Nav1.4Auto-antibodiesto AChRsAuto-antibodiesto MuSKHypomorphic mutations in thesegenes impair postsynaptic differentiation. The number of AChRs at synapses is reduced, which compromises the reliability of synaptic transmission and leads to muscle weakness and fatigue. Mutations in these genes impairsynaptic transmission, leading tomuscle weakness and fatigue. ChAT encodes the enzyme forsynthesizing ACh, and Nav1.4encodes a voltage-activatedsodium channel expressed inskeletal muscle. Cause accelerated degradationof AChRs and structural disorganization of the synapse,leading to Myasthenia GravisCause structural disorganizationof the synapse, leading toMyasthenia Gravis.

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