Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans (Q24612220)

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3 November 2019

title

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

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3 November 2019

1

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Fenella J. Kirkham

9

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3 November 2019

author name string

A Tsujino

2

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J M Brengman

3

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C M Harper

4

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3 November 2019

Z Bajzer

5

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B Udd

6

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R Beyring

7

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S Robb

8

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A G Engel

10

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language of work or name

English

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publication date

1 February 2001

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

3 November 2019

published in

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volume

98

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issue

4

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page(s)

2017-2022

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Molecular cloning of a human, hemicholinium-3-sensitive choline transporter

3 November 2019

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Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?

7 April 2017

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Functional identification of a vesicular acetylcholine transporter and its expression from a "cholinergic" gene locus

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

7 April 2017

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Choline acetyltransferase-deficient mutants of the nematode Caenorhabditis elegans

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cDNA cloning and complete sequence of porcine choline acetyltransferase: in vitro translation of the corresponding RNA yields an active protein

7 April 2017

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Human choline acetyltransferase (CHAT): partial gene sequence and potential control regions

7 April 2017

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Human choline acetyltransferase gene: localization of alternative first exons

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Re-evaluation of the kinetic mechanism of the choline acetyltransferase reaction

7 April 2017

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Identification and characterization of the high-affinity choline transporter

7 April 2017

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7 April 2017

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Kinesin-II is required for axonal transport of choline acetyltransferase in Drosophila.

27 September 2017

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Nuclear localization of the 82-kDa form of human choline acetyltransferase.

27 September 2017

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Redesign of choline acetyltransferase specificity by protein engineering

27 September 2017

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Upstream sequencing and functional characterization of the human cholinergic gene locus

27 September 2017

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Human choline acetyltransferase mRNAs with different 5'-region produce a 69-kDa major translation product

27 September 2017

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

27 September 2017

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Arthrogryposis multiplex congenita due to congenital myasthenia

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

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Cloning of the rat gene encoding choline acetyltransferase, a cholinergic neuron-specific marker

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A complementary DNA for human choline acetyltransferase induces two forms of enzyme with different molecular weights in cultured cells

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27 September 2017

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Choline acetyltransferase and acetylcholine levels in Drosophila melanogaster: a study using two temperature-sensitive mutants.

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Complementary DNAs for choline acetyltransferase from spinal cords of rat and mouse: nucleotide sequences, expression in mammalian cells, and in situ hybridization

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

21 January 2018

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Vesicular neurotransmitter transport and the presynaptic regulation of quantal size

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Familial infantile myasthenia: confusion in terminology

28 November 2018

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12 December 2020

Familial infantile myasthenia gravis: a cause of sudden death in young children

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12 December 2020

Familial Infantile Myasthenia

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12 December 2020

Familial infantile myasthenia gravis: a preventable cause of sudden death

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12 December 2020

Familial infantile myasthenia gravis. Report of three cases with follow-up until adult life

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12 December 2020

Synaptic vesicle abnormality in familial infantile myasthenia

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12 December 2020

Congenital myasthenic syndromes

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12 December 2020

Complete sequence of a cDNA encoding an active rat choline acetyltransferase: a tool to investigate the plasticity of cholinergic phenotype expression

1 reference

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12 December 2020

Familial infantile myasthenia: a neuromuscular cause of respiratory failure

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12 December 2020

Identification of an active site arginine in rat choline acetyltransferase by alanine scanning mutagenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/11172068

12 December 2020

A sputtered gold microelectrode in combination with a multibarrelled micropipette: a low impedance extracellular recording electrode with the facility of iontophoresis

1 reference

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7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1073/PNAS.98.4.2017

2 references

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3 November 2019

ADS bibcode

2001PNAS...98.2017O

0 references

1 reference

2 references

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3 November 2019

PubMed publication ID

11172068

2 references