(Q35120131)

6 August 2017

1 reference

title

Sleuthing molecular targets for neurological diseases at the neuromuscular junction (English)

1 reference

6 August 2017

neuromuscular junction

1 reference

2

Kinji Ohno

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12728262

30 December 2023

author name string

Andrew G. Engel

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12728262

30 December 2023

Steven M. Sine

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12728262

30 December 2023

language of work or name

English

0 references

publication date

1 May 2003

1 reference

full work available at URL

6 August 2017

http://www.nature.com/articles/nrn1101.pdf

file format

Portable Document Format

1 reference

https://api.crossref.org/works/10.1038/NRN1101

http://www.nature.com/articles/nrn1101

30 December 2023

1 reference

https://api.crossref.org/works/10.1038/NRN1101

Nature Reviews Neuroscience

30 December 2023

published in

1 reference

6 August 2017

4

1 reference

6 August 2017

5

1 reference

6 August 2017

339-352

1 reference

https://scigraph.springernature.com/pub.10.1038/nrn1101

6 August 2017

0 references

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Treatment of slow-channel congenital myasthenic syndrome with fluoxetine

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Crystal structure of an ACh-binding protein reveals the ligand-binding domain of nicotinic receptors

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The nicotinic receptor ligand binding domain

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Congenital myasthenic syndromes: II. Syndrome attributed to abnormal interaction of acetylcholine with its receptor

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Some effects of nerve stimulation andhemicholinium on quantal transmitter release at the mammalian neuromuscular junction

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Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.

31 March 2020

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31 March 2020

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31 March 2020

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Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome

31 March 2020

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Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita

31 March 2020

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Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating.

31 March 2020

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From ab initio quantum mechanics to molecular neurobiology: a cation-pi binding site in the nicotinic receptor

31 March 2020

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Lysine scanning mutagenesis delineates structural model of the nicotinic receptor ligand binding domain

31 March 2020

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End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit

31 March 2020

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Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations

31 March 2020

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Acetylcholine receptor epsilon-subunit deletion causes muscle weakness and atrophy in juvenile and adult mice

31 March 2020

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End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations

31 March 2020

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Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor.

31 March 2020

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A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin

31 March 2020

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Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene

31 March 2020

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Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome

31 March 2020

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Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation

31 March 2020

1 reference

Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR.

31 March 2020

1 reference

A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome

31 March 2020

1 reference

Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor epsilon subunit gene

31 March 2020

1 reference

Identification of an element crucial for the sub-synaptic expression of the acetylcholine receptor epsilon-subunit gene.

31 March 2020

1 reference

Implication of a multisubunit Ets-related transcription factor in synaptic expression of the nicotinic acetylcholine receptor

31 March 2020

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Synapse-specific and neuregulin-induced transcription require an ets site that binds GABPalpha/GABPbeta

31 March 2020

1 reference

Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly

31 March 2020

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Congenital myasthenic syndromes: gene mutations

31 March 2020

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The postsynaptic 43k protein clusters muscle nicotinic acetylcholine receptors in xenopus oocytes

31 March 2020

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Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsyn-deficient mice.

31 March 2020

1 reference

Neuromuscular synaptogenesis: clustering of acetylcholine receptors revisited

31 March 2020

1 reference

The myristoylated protein rapsyn is cotargeted with the nicotinic acetylcholine receptor to the postsynaptic membrane via the exocytic pathway

31 March 2020

1 reference

Rapsyn escorts the nicotinic acetylcholine receptor along the exocytic pathway via association with lipid rafts

31 March 2020

1 reference

Interaction of the 43 kd postsynaptic protein with all subunits of the muscle nicotinic acetylcholine receptor

31 March 2020

1 reference

The intracellular domain of the nicotinic acetylcholine receptor alpha subunit mediates its coclustering with rapsyn

31 March 2020

1 reference

Evidence for in situ and in vitro association between beta-dystroglycan and the subsynaptic 43K rapsyn protein. Consequence for acetylcholine receptor clustering at the synapse

31 March 2020

1 reference

Mechanism of nicotinic acetylcholine receptor cluster formation by rapsyn

31 March 2020

1 reference

Role of rapsyn tetratricopeptide repeat and coiled-coil domains in self-association and nicotinic acetylcholine receptor clustering

31 March 2020

1 reference

Interactions of the rapsyn RING-H2 domain with dystroglycan

31 March 2020

1 reference

Skeletal muscle determination and differentiation: story of a core regulatory network and its context

31 March 2020

1 reference

Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome

31 March 2020

1 reference

E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome

31 March 2020

1 reference

Defective neuromuscular synaptogenesis in agrin-deficient mutant mice

31 March 2020

1 reference

Alternatively spliced isoforms of nerve- and muscle-derived agrin: their roles at the neuromuscular junction

31 March 2020

1 reference

Agrin acts via a MuSK receptor complex

31 March 2020

1 reference

Rapsyn is required for MuSK signaling and recruits synaptic components to a MuSK-containing scaffold

31 March 2020

1 reference

Src, Fyn, and Yes are not required for neuromuscular synapse formation but are necessary for stabilization of agrin-induced clusters of acetylcholine receptors.

31 March 2020

1 reference

Maintenance of acetylcholine receptor number by neuregulins at the neuromuscular junction in vivo

31 March 2020

1 reference

Induction of acetylcholine receptor gene expression by ARIA requires activation of mitogen-activated protein kinase

31 March 2020

1 reference

Heregulin-stimulated acetylcholine receptor gene expression in muscle: requirement for MAP kinase and evidence for a parallel inhibitory pathway independent of electrical activity

31 March 2020

1 reference

Neuromuscular junction disassembly and muscle fatigue in mice lacking neurotrophin-4.

31 March 2020

1 reference

Disruption of Trkb-mediated signaling induces disassembly of postsynaptic receptor clusters at neuromuscular junctions

31 March 2020

1 reference

A novel mechanism for modulating synaptic gene expression: differential localization of alpha-dystrobrevin transcripts in skeletal muscle

31 March 2020

1 reference

Subtle neuromuscular defects in utrophin-deficient mice

31 March 2020

1 reference

Absence of alpha-syntrophin leads to structurally aberrant neuromuscular synapses deficient in utrophin

31 March 2020

1 reference

Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes

31 March 2020

1 reference

Emerging structure of the nicotinic acetylcholine receptors

31 March 2020

1 reference

Activation of the nicotinic acetylcholine receptor involves a switch in conformation of the alpha subunits.

31 March 2020

1 reference

Primary structure of a collagenic tail peptide of Torpedo acetylcholinesterase: co-expression with catalytic subunit induces the production of collagen-tailed forms in transfected cells

31 March 2020

series ordinal

26

1 reference

https://api.crossref.org/works/10.1038/NRN1101

https://api.fatcat.wiki/v0/release/nm52snmjinbirb5uj2bnuu6cve

30 December 2023

Identifiers

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30 July 2022

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Dimensions Publication ID

1050470377

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Fatcat ID

release_nm52snmjinbirb5uj2bnuu6cve

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/nm52snmjinbirb5uj2bnuu6cve

mapped directly with Wikidata item

30 July 2022

based on heuristic

1 reference

https://api.fatcat.wiki/v0/release/nm52snmjinbirb5uj2bnuu6cve