Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability (Q34777891)

4 August 2017

title

Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability (English)

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disability affecting intellectual abilities

4 August 2017

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Xin-Ming Shen

1

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4 August 2017

Duygu Selcen

series ordinal

2

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4 August 2017

Joan Brengman

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3

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4 August 2017

Andrew G Engel

series ordinal

4

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4 August 2017

language of work or name

English

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publication date

7 November 2014

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4 August 2017

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4 August 2017

volume

83

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4 August 2017

issue

24

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4 August 2017

page(s)

2247-2255

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Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability

4 August 2017

cites work

1 reference

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Neurotransmitter release: the last millisecond in the life of a synaptic vesicle

7 July 2018

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Synaptotagmin interaction with SNAP-25 governs vesicle docking, priming, and fusion triggering.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277673

The SNARE proteins SNAP25 and synaptobrevin are involved in endocytosis at hippocampal synapses

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277673

Epileptiform activity and cognitive deficits in SNAP-25(+/-) mice are normalized by antiepileptic drugs

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277673

Current status of the congenital myasthenic syndromes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277673

Doc2 is a Ca2+ sensor required for asynchronous neurotransmitter release.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277673

A single amino acid mutation in SNAP-25 induces anxiety-related behavior in mouse

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277673

Resolving the function of distinct Munc18-1/SNARE protein interaction modes in a reconstituted membrane fusion assay

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277673

Regional and developmental brain expression patterns of SNAP25 splice variants

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277673

The functions of Munc18-1 in regulated exocytosis

7 July 2018

1 reference

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Activity-dependent phosphorylation of Ser187 is required for SNAP-25-negative modulation of neuronal voltage-gated calcium channels.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277673

Primary culture of bovine chromaffin cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277673

A dominant mutation in Snap25 causes impaired vesicle trafficking, sensorimotor gating, and ataxia in the blind-drunk mouse.

7 July 2018

1 reference

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SNAREs in opposing bilayers interact in a circular array to form conducting pores

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277673

Three-dimensional structure of the complexin/SNARE complex

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277673

A single amino acid near the C terminus of the synaptosomeassociated protein of 25 kDa (SNAP-25) is essential for exocytosis in chromaffin cells.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277673

Crystal structure of a SNARE complex involved in synaptic exocytosis at 2.4 A resolution

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277673

SNAREpins: minimal machinery for membrane fusion

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277673

Congenital myasthenic syndromes: II. Syndrome attributed to abnormal interaction of acetylcholine with its receptor

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277673

Differential expression of SNAP-25 protein isoforms during divergent vesicle fusion events of neural development.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277673

A simple method for displaying the hydropathic character of a protein

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277673

Nicotinic receptor-mediated catecholamine secretion from individual chromaffin cells. Chemical evidence for exocytosis

7 July 2018

1 reference

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Temporally resolved catecholamine spikes correspond to single vesicle release from individual chromaffin cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277673

Guanidine and neuromuscular transmission. II. Effect on transmitter release in response to repetitive nerve stimulation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277673

Arg206 of SNAP-25 is essential for neuroexocytosis at the Drosophila melanogaster neuromuscular junction

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277673

Evidence that putative ADHD low risk alleles at SNAP25 may increase the risk of schizophrenia.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277673

SNAP-25 reduction in the hippocampus of patients with schizophrenia.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277673

Release probability is regulated by the size of the readily releasable vesicle pool at excitatory synapses in hippocampus

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277673

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4277673

A Structural Change Occurs upon Binding of Syntaxin to SNAP-25

26 October 2018

1 reference

12 December 2020

A quantitative study of end-plate potentials in isolated human muscle

1 reference

12 December 2020

In vivo continuous electrochemical determination of dopamine release in rat neostriatum

1 reference

12 December 2020

N- to C-Terminal SNARE Complex Assembly Promotes Rapid Membrane Fusion

1 reference

12 December 2020

Differential Control of the Releasable Vesicle Pools by SNAP-25 Splice Variants and SNAP-23

1 reference

12 December 2020

Differential expression of SNAP-25 isoforms and SNAP-23 in the adrenal gland

1 reference

12 December 2020

Calcium drives fusion of SNARE-apposed bilayers

1 reference

12 December 2020

Differential expression of SNAP-25 family proteins in the mouse brain

1 reference

12 December 2020

10.1212/WNL.0000000000001079

Identifiers

DOI

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4 August 2017

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4 August 2017

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