Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita (Q24671934)

transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author name string

S Brownlow

1

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R Webster

2

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R Croxen

3

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M Brydson

4

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B Neville

5

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J P Lin

6

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A Vincent

7

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J Newsom-Davis

8

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D Beeson

Journal of Clinical Investigation

9

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language of work or name

English

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publication date

July 2001

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published in

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volume

108

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issue

1

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page(s)

125-30

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209343

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209343

Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209343

Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209343

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209343

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209343

Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209343

Association of arthrogryposis multiplex congenita with maternal antibodies inhibiting fetal acetylcholine receptor function

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209343

Molecular dissection of subunit interfaces in the acetylcholine receptor. Identification of residues that determine agonist selectivity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209343

Arthrogryposis multiplex congenita due to congenital myasthenia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209343

Molecular distinction between fetal and adult forms of muscle acetylcholine receptor

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209343

d-Tubocurarine binding sites are located at alpha-gamma and alpha-delta subunit interfaces of the nicotinic acetylcholine receptor

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209343

Stable functional expression of the adult subtype of human muscle acetylcholine receptor following transfection of the human rhabdomyosarcoma cell line TE671 with cDNA encoding the epsilon subunit.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209343

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=209343

Burst kinetics of single calcium-activated potassium channels in cultured rat muscle

28 November 2018

1 reference

12 December 2020

cDNA and genomic clones encoding the human muscle acetylcholine receptor

1 reference

12 December 2020

Identification of a new component of the agonist binding site of the nicotinic alpha 7 homooligomeric receptor

1 reference

12 December 2020

Identification of amino acids contributing to high and low affinity d-tubocurarine sites in the Torpedo nicotinic acetylcholine receptor

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

Monoclonal antibodies raised against human acetylcholine receptor bind to all five subunits of the fetal isoform

1 reference

12 December 2020

Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen

1 reference

12 December 2020

Arthrogryposis multiplex congenita due to congenital myasthenic syndrome

1 reference

12 December 2020

Severe congenital myasthenic syndrome due to homozygosity of the 1293insG epsilon-acetylcholine receptor subunit mutation

1 reference

12 December 2020

Identifiers

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1339045

1339045

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1 reference

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