Patients with congenital myasthenia associated with end-plate acetylcholinesterase deficiency show normal sequence, mRNA splicing, and assembly of catalytic subunits
about
Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzymeMutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic)Why so many forms of acetylcholinesterase?Cloning and expression of acetylcholinesterase from Electrophorus. Splicing pattern of the 3' exons in vivo and in transfected mammalian cells.Mutations causing muscle weakness.Soluble monomeric acetylcholinesterase from mouse: expression, purification, and crystallization in complex with fasciculin.C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapse.
P2860
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P2860
Patients with congenital myasthenia associated with end-plate acetylcholinesterase deficiency show normal sequence, mRNA splicing, and assembly of catalytic subunits
description
1995 nî lūn-bûn
@nan
1995 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Patients with congenital myast ...... assembly of catalytic subunits
@ast
Patients with congenital myast ...... assembly of catalytic subunits
@en
Patients with congenital myast ...... assembly of catalytic subunits
@nl
type
label
Patients with congenital myast ...... assembly of catalytic subunits
@ast
Patients with congenital myast ...... assembly of catalytic subunits
@en
Patients with congenital myast ...... assembly of catalytic subunits
@nl
prefLabel
Patients with congenital myast ...... assembly of catalytic subunits
@ast
Patients with congenital myast ...... assembly of catalytic subunits
@en
Patients with congenital myast ...... assembly of catalytic subunits
@nl
P2093
P2860
P356
P1476
Patients with congenital myast ...... assembly of catalytic subunits
@en
P2093
D K Getman
J Massoulié
P2860
P304
P356
10.1172/JCI117661
P407
P577
1995-01-01T00:00:00Z