Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme (Q24320183)

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

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instance of

scholarly article

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title

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

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main subject

Collagen like tail subunit of asymmetric acetylcholinesterase

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stated in

GOA release 2020-03-11

author name string

K Ohno

series ordinal

1

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J Brengman

series ordinal

2

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A Tsujino

series ordinal

3

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A G Engel

series ordinal

4

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language of work or name

English

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publication date

4 August 1998

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published in

Proceedings of the National Academy of Sciences of the United States of America

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volume

95

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issue

16

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page(s)

9654-9

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cites work

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

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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

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Molecular and cellular biology of cholinesterases

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Gene structure of mammalian acetylcholinesterase. Alternative exons dictate tissue-specific expression

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19 March 2017

A new and rapid colorimetric determination of acetylcholinesterase activity

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Patients with congenital myasthenia associated with end-plate acetylcholinesterase deficiency show normal sequence, mRNA splicing, and assembly of catalytic subunits

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Collagens: molecular biology, diseases, and potentials for therapy

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Human growth hormone as a reporter gene in regulation studies employing transient gene expression

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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

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Asymmetric and globular forms of acetylcholinesterase in mammals and birds

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A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release

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The mammalian gene of acetylcholinesterase-associated collagen

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30 May 2018

Quaternary associations of acetylcholinesterase. II. The polyproline attachment domain of the collagen tail

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Congenital endplate acetylcholinesterase deficiency

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Pesticide induced muscle necrosis: mechanisms and prevention

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The binding of acetylcholine to receptors and its removal from the synaptic cleft

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Multiple messenger RNA species give rise to the structural diversity in acetylcholinesterase

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Single gene encodes glycophospholipid-anchored and asymmetric acetylcholinesterase forms: alternative coding exons contain inverted repeat sequences

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Endplates after esterase inactivationin vivo: correlation between esterase concentration, functional response and fine structure

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30 May 2018

Two heparin-binding domains are present on the collagenic tail of asymmetric acetylcholinesterase

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9689136

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The spectrum of congenital end-plate acetylcholinesterase deficiency

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9689136

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple forms of acetylcholinesterase and their distribution in endplate and non-endplate regions of rat diaphragm muscle

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9689136

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Folding of collagen IV

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9689136

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A study of the desensitization produced by acetylcholine at the motor end-plate

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9689136

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA fluorescent probes for diagnosis of velocardiofacial and related syndromes

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9689136

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the organophosphate-induced electromyographic response to repetitive nerve stimulation: paradoxical response to edrophonium and D-tubocurarine

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9689136

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quaternary associations of acetylcholinesterase. I. Oligomeric associations of T subunits with and without the amino-terminal domain of the collagen tail

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9689136

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cellular localization of the molecular forms of acetylcholinesterase in rat diaphragm

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/9689136

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1073/PNAS.95.16.9654

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2735303

ADS bibcode

1998PNAS...95.9654O

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OpenCitations bibliographic resource ID

2735303

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2735303

PMC publication ID

21394

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2735303

PubMed publication ID

9689136

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2735303

ResearchGate publication ID

13596358

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