Defective presynaptic choline transport underlies hereditary motor neuropathy. (Q34310899)

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17 February 2020

case report

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title

Defective presynaptic choline transport underlies hereditary motor neuropathy (English)

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Mary M Reilly

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17 February 2020

author name string

Katy E S Barwick

1

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17 February 2020

Jane Wright

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17 February 2020

Saeed Al-Turki

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Meriel M McEntagart

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Ajith Nair

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Ali Al-Memar

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Hamid Modarres

8

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Katherine J Dick

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Alicia M Ruggiero

11

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Randy D Blakely

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Matt E Hurles

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Andrew H Crosby

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language of work or name

English

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publication date

8 November 2012

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American Journal of Human Genetics

17 February 2020

published in

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volume

91

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issue

6

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17 February 2020

page(s)

1103-1107

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The distal hereditary motor neuropathies.

17 February 2020

cites work

1 reference

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Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes

6 July 2018

1 reference

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Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome

6 July 2018

1 reference

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Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission

6 July 2018

1 reference

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Dok-7 mutations underlie a neuromuscular junction synaptopathy

6 July 2018

1 reference

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The high-affinity choline transporter: a critical protein for sustaining cholinergic signaling as revealed in studies of genetically altered mice.

6 July 2018

1 reference

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Molecular architecture of the neuromuscular junction

6 July 2018

1 reference

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Constitutive high-affinity choline transporter endocytosis is determined by a carboxyl-terminal tail dileucine motif

6 July 2018

1 reference

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6 July 2018

Synaptic vesicle pools

1 reference

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Lethal impairment of cholinergic neurotransmission in hemicholinium-3-sensitive choline transporter knockout mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

The choline transporter resurfaces: new roles for synaptic vesicles?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

Aberrant patterning of neuromuscular synapses in choline acetyltransferase-deficient mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

An electric lobe suppressor for a yeast choline transport mutation belongs to a new family of transporter-like proteins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

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

6 July 2018

1 reference

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Protein kinase C activation regulates human serotonin transporters in HEK-293 cells via altered cell surface expression

6 July 2018

1 reference

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Hereditary spastic paraplegias

6 July 2018

1 reference

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Distal spinal muscular atrophy with vocal cord paralysis

6 July 2018

1 reference

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An activity-dependent retrograde signal induces the expression of the high-affinity choline transporter in cholinergic neurons

6 July 2018

1 reference

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Congenital myasthenic syndromes in childhood: diagnostic and management challenges

28 October 2018

1 reference

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Deficits in acetylcholine homeostasis, receptors and behaviors in choline transporter heterozygous mice

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

Ultrastructural localization of high-affinity choline transporter in the rat neuromuscular junction: enrichment on synaptic vesicles

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

Vesicular Localization and Activity-Dependent Trafficking of Presynaptic Choline Transporters

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516609

Refinement of the locus for distal hereditary motor neuronopathy VII (dHMN-VII) and exclusion of candidate genes

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23141292

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2012.09.019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141292 AND SRC:MED&resulttype=core&format=json

17 February 2020

1 reference

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17 February 2020

PubMed publication ID

23141292

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141292 AND SRC:MED&resulttype=core&format=json