(Q38754629)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21786365%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

title

Functional consequences and structural interpretation of mutations of human choline acetyltransferase (English)

1 reference

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8 February 2020

9

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8 February 2020

author name string

Xin-Ming Shen

1

1 reference

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8 February 2020

Thomas O Crawford

2

1 reference

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8 February 2020

Joan Brengman

3

1 reference

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8 February 2020

Gyula Acsadi

4

1 reference

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8 February 2020

Susan Iannaconne

5

1 reference

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8 February 2020

Emin Karaca

6

1 reference

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8 February 2020

Chaouky Khoury

7

1 reference

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8 February 2020

Jean K Mah

8

1 reference

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8 February 2020

Zeljko Bajzer

10

1 reference

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8 February 2020

David Rodgers

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21786365%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Andrew G Engel

12

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8 February 2020

publication date

23 September 2011

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8 February 2020

1 reference

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8 February 2020

volume

32

1 reference

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8 February 2020

issue

11

1 reference

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8 February 2020

page(s)

1259-1267

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21786365%20AND%20SRC:MED&resulttype=core&format=json

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

8 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

Myasthenic syndrome caused by plectinopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

What have we learned from the congenital myasthenic syndromes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

Congenital myasthenic syndrome with episodic apnea

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

The therapy of congenital myasthenic syndromes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

Current understanding of congenital myasthenic syndromes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

Choline acetyltransferase structure reveals distribution of mutations that cause motor disorders.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

Myasthenic syndrome caused by mutation of the SCN4A sodium channel

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

Identification of pathogenic mutations in the human rapsyn gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

Functional characterization of phosphorylation of 69-kDa human choline acetyltransferase at serine 440 by protein kinase C.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

The spectrum of mutations causing end-plate acetylcholinesterase deficiency

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

Functional analysis of conserved histidines in choline acetyltransferase by site-directed mutagenesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

Dok-7 mutations underlie a neuromuscular junction synaptopathy

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

A rapid radiochemical method for the determination of choline acetyltransferase

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

Severe congenital myasthenia gravis of the presynaptic type with choline acetyltransferase mutation in a Chinese infant with respiratory failure

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

Surface-entropy reduction used in the crystallization of human choline acetyltransferase.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

MUSK, a new target for mutations causing congenital myasthenic syndrome

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3196808

Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes

31 August 2018

1 reference

12 December 2020

Synaptic vesicle abnormality in familial infantile myasthenia

1 reference

12 December 2020

Congenital myasthenic syndromes

1 reference

12 December 2020

Substrate binding and catalytic mechanism of human choline acetyltransferase

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.21560

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21786365%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21786365%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

PubMed publication ID

21786365

1 reference