Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly
about
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndromeAcetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenitaDefective presynaptic choline transport underlies hereditary motor neuropathy.Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.Identification of neuromuscular junctions by correlative confocal and transmission electron microscopy.Current status of the congenital myasthenic syndromes.Functional contribution of alpha3L8' to the neuronal nicotinic alpha3 receptor.hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndromeRapsyn interacts with the muscle acetylcholine receptor via alpha-helical domains in the alpha, beta, and epsilon subunit intracellular loops.Fine mapping of "mini-muscle," a recessive mutation causing reduced hindlimb muscle mass in miceNicotinic acetylcholine receptors in human genetic disease.Lysine scanning mutagenesis delineates structural model of the nicotinic receptor ligand binding domain.A conserved Cys-loop receptor aspartate residue in the M3-M4 cytoplasmic loop is required for GABAA receptor assembly.Association of the gene encoding the delta-subunit of the muscle acetylcholine receptor (CHRND) with acquired autoimmune myasthenia gravis.Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions.Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.
P2860
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P2860
Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly
description
1999 nî lūn-bûn
@nan
1999 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Mutation causing congenital my ...... raction essential for assembly
@ast
Mutation causing congenital my ...... raction essential for assembly
@en
Mutation causing congenital my ...... raction essential for assembly
@nl
type
label
Mutation causing congenital my ...... raction essential for assembly
@ast
Mutation causing congenital my ...... raction essential for assembly
@en
Mutation causing congenital my ...... raction essential for assembly
@nl
prefLabel
Mutation causing congenital my ...... raction essential for assembly
@ast
Mutation causing congenital my ...... raction essential for assembly
@en
Mutation causing congenital my ...... raction essential for assembly
@nl
P2093
P2860
P356
P1476
Mutation causing congenital my ...... raction essential for assembly
@en
P2093
J M Brengman
M C Patterson
N J Pruitt
P A Quiram
P2860
P304
P356
10.1172/JCI8179
P407
P577
1999-11-01T00:00:00Z