(Q36532526)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18398509%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

title

Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18398509%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

0 references

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18398509%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

author name string

Xin-Ming Shen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18398509%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Taku Fukuda

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18398509%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Steven M Sine

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18398509%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Andrew G Engel

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18398509%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

language of work or name

English

0 references

publication date

1 May 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18398509%20AND%20SRC:MED&resulttype=core&format=json

Journal of Clinical Investigation

5 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18398509%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

volume

118

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18398509%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18398509%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

page(s)

1867-1876

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18398509%20AND%20SRC:MED&resulttype=core&format=json

Gating of nicotinic ACh receptors; new insights into structural transitions triggered by agonist binding that induce channel opening

5 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

Dok-7 mutations underlie a neuromuscular junction synaptopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

Recent advances in Cys-loop receptor structure and function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

Current understanding of congenital myasthenic syndromes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

Refined structure of the nicotinic acetylcholine receptor at 4A resolution

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

Myasthenic syndrome caused by mutation of the SCN4A sodium channel

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

Sleuthing molecular targets for neurological diseases at the neuromuscular junction

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

Double-mutant cycles: a powerful tool for analyzing protein structure and function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

Acetylcholinesterase of human erythrocytes and neuromuscular junctions: homologies revealed by monoclonal antibodies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

Data transformations for improved display and fitting of single-channel dwell time histograms

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

Fast events in single-channel currents activated by acetylcholine and its analogues at the frog muscle end-plate

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

Functional architecture of the nicotinic acetylcholine receptor: from electric organ to brain

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

Determinants responsible for assembly of the nicotinic acetylcholine receptor

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

Additivity of mutational effects in proteins

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

Amplification of neuromuscular transmission by postjunctional folds.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

An intersubunit trigger of channel gating in the muscle nicotinic receptor.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

MUSK, a new target for mutations causing congenital myasthenic syndrome

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

Maximum likelihood estimation of aggregated Markov processes.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2289798

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

21 September 2018

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

Strategy for analysing the co-operativity of intramolecular interactions in peptides and proteins

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI34527

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18398509%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18398509%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

PubMed publication ID

18398509

1 reference