(Q34837904)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12588888%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12588888%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

2

1 reference

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31 October 2019

author name string

Xin-Ming Shen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12588888%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

Akira Tsujino

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12588888%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

Joan M Brengman

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12588888%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

Monique Gingold

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12588888%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

Steven M Sine

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12588888%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

Andrew G Engel

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12588888%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

language of work or name

English

0 references

publication date

1 February 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12588888%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

number of pages

9

1 reference

Journal of Clinical Investigation

inferred from page(s)

published in

1 reference

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31 October 2019

volume

111

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12588888%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12588888%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

page(s)

497-505

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12588888%20AND%20SRC:MED&resulttype=core&format=json

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

31 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

Congenital myasthenic syndromes: genetic defects of the neuromuscular junction

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

LGICdb: the ligand-gated ion channel database

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

The temperature sensitivity of miniature endplate currents is mostly governed by channel gating: evidence from optimized recordings and Monte Carlo simulations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

Mutation in the M1 domain of the acetylcholine receptor alpha subunit decreases the rate of agonist dissociation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

Asymmetric contribution of the conserved disulfide loop to subunit oligomerization and assembly of the nicotinic acetylcholine receptor.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

A conserved disulfide loop facilitates conformational maturation in the subunits of the acetylcholine receptor

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

Estimating single-channel kinetic parameters from idealized patch-clamp data containing missed events

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

Miniature endplate current rise times less than 100 microseconds from improved dual recordings can be modeled with passive acetylcholine diffusion from a synaptic vesicle

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

Congenital endplate acetylcholinesterase deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

Patch-clamp analysis of the properties of acetylcholine receptor channels at the normal human endplate

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

Expression of functional acetylcholine receptor from cloned cDNAs

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

Evidence that the acetylcholine binding site is not formed by the sequence alpha 127-143 of the acetylcholine receptor

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

The human medulloblastoma cell line TE671 expresses a muscle-like acetylcholine receptor. Cloning of the alpha-subunit cDNA

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

Mutational analysis of muscle nicotinic acetylcholine receptor subunit assembly

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

Assembly of mutant subunits of the nicotinic acetylcholine receptor lacking the conserved disulfide loop structure

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

Neurobiology. Snails, synapses and smokers

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

Congenital myasthenic syndromes: I. Deficiency and short open-time of the acetylcholine receptor.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

Structural basis of the different gating kinetics of fetal and adult acetylcholine receptors

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151927

Location of functional regions of acetylcholine receptor α-subunit by site-directed mutagenesis

26 October 2018

1 reference

12 December 2020

The role of the cystine loop in acetylcholine receptor assembly

1 reference

12 December 2020

Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit

1 reference

12 December 2020

A quantitative study of end-plate potentials in isolated human muscle

1 reference

12 December 2020

Ultrastructural localization of the acetylcholine receptor in myasthenia gravis and in its experimental autoimmune model

1 reference

12 December 2020

Single acetylcholine-activated channels show burst-kinetics in presence of desensitizing concentrations of agonist

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI16997

1 reference

PubMed publication ID

4 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12588888%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12588888%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

PubMed publication ID

12588888

1 reference