Acetylcholine receptor epsilon-subunit deletion causes muscle weakness and atrophy in juvenile and adult mice
about
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunitRole of Myosin Va in the plasticity of the vertebrate neuromuscular junction in vivoNovel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndromeCongenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutationsAChRs Are Essential for the Targeting of Rapsyn to the Postsynaptic Membrane of NMJs in Living MiceEssential roles of the acetylcholine receptor gamma-subunit in neuromuscular synaptic patterning.Agrin regulates CLASP2-mediated capture of microtubules at the neuromuscular junction synaptic membrane.Degeneration of neuromuscular junction in age and dystrophy.Spontaneous muscle action potentials fail to develop without fetal-type acetylcholine receptors.Differences in pharmacodynamic responses to rocuronium in normal or injured orbicularis oris are associated with expression of acetylcholine receptor subunitsAcetylcholine negatively regulates development of the neuromuscular junction through distinct cellular mechanisms.Time lapse in vivo visualization of developmental stabilization of synaptic receptors at neuromuscular junctionsEarly postnatal death and motor disorders in mice congenitally deficient in calnexin expression.Functional differences between neurotransmitter binding sites of muscle acetylcholine receptors.Neuregulin/ErbB regulate neuromuscular junction development by phosphorylation of α-dystrobrevinTargeting of the ETS factor GABPalpha disrupts neuromuscular junction synaptic function.Structural correlates of affinity in fetal versus adult endplate nicotinic receptorsMuscle and neuronal nicotinic acetylcholine receptors. Structure, function and pathogenicity.Defective Acetylcholine Receptor Subunit Switch Precedes Atrophy of Slow-Twitch Skeletal Muscle Fibers Lacking ERK1/2 Kinases in Soleus Muscle.Stem cell-derived neurotrophic support for the neuromuscular junction in spinal muscular atrophy.Novel role for cyclin-dependent kinase 2 in neuregulin-induced acetylcholine receptor epsilon subunit expression in differentiated myotubes.Acetylcholine receptor channel subtype directs the innervation pattern of skeletal muscle.Disparate dysfunction of skeletal muscles located near and distant from burn site in the rat.Slow myosin heavy chain expression in the absence of muscle activity.Changes in acetylcholine receptor function induce shifts in muscle fiber type composition.Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor.Congenital myasthenic syndrome caused by novel loss-of-function mutations in the human AChR epsilon subunit gene.Congenital myasthenic syndromes. New insights from molecular genetic and patch-clamp studies.Neuromuscular junctions (NMJs): ultrastructural analysis and nicotinic acetylcholine receptor (nAChR) subunit mRNA expression in offspring subjected to protein restriction throughout pregnancy.MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).Different functions of fetal and adult AChR subtypes for the formation and maintenance of neuromuscular synapses revealed in epsilon-subunit-deficient mice.Animal Models of the Neuromuscular Junction, Vitally Informative for Understanding Function and the Molecular Mechanisms of Congenital Myasthenic Syndromes.Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause
P2860
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P2860
Acetylcholine receptor epsilon-subunit deletion causes muscle weakness and atrophy in juvenile and adult mice
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
1996年论文
@zh
1996年论文
@zh-cn
name
Acetylcholine receptor epsilon ...... phy in juvenile and adult mice
@ast
Acetylcholine receptor epsilon ...... phy in juvenile and adult mice
@en
type
label
Acetylcholine receptor epsilon ...... phy in juvenile and adult mice
@ast
Acetylcholine receptor epsilon ...... phy in juvenile and adult mice
@en
prefLabel
Acetylcholine receptor epsilon ...... phy in juvenile and adult mice
@ast
Acetylcholine receptor epsilon ...... phy in juvenile and adult mice
@en
P2093
P2860
P356
P1476
Acetylcholine receptor epsilon ...... phy in juvenile and adult mice
@en
P2093
A Villarroel
C Berberich
H R Brenner
V Witzemann
P2860
P304
13286-13291
P356
10.1073/PNAS.93.23.13286
P407
P577
1996-11-01T00:00:00Z