Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder (Q30840162)

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2 April 2020

title

Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder (English)

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2 April 2020

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2 April 2020

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2 April 2020

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2 April 2020

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2 April 2020

Nils Brose

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2 April 2020

author name string

Nanda M Verhoeven-Duif

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2 April 2020

Francesco E Michelassi

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2 April 2020

Nathaniel Calloway

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2 April 2020

Peter M van Hasselt

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2 April 2020

Katarzyna Pienkowska

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2 April 2020

Gijs van Haaften

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2 April 2020

Mieke M van Haelst

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2 April 2020

Ron van Empelen

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2 April 2020

Inge Cuppen

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2 April 2020

Heleen C van Teeseling

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2 April 2020

Annemieke M V Evelein

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2 April 2020

Jacob A Vorstman

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2 April 2020

Olaf Jahn

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2 April 2020

Karen J Duran

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2 April 2020

Glen R Monroe

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2 April 2020

Timothy A Ryan

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2 April 2020

Jeremy S Dittman

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2 April 2020

Jeong-Seop Rhee

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2 April 2020

Gepke Visser

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2 April 2020

language of work or name

English

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publication date

13 February 2017

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Journal of Clinical Investigation

2 April 2020

published in

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2 April 2020

volume

127

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2 April 2020

issue

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2 April 2020

page(s)

1005-1018

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Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia

2 April 2020

cites work

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Functional synergy between the Munc13 C-terminal C1 and C2 domains

21 June 2018

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Phosphorylation of synaptotagmin-1 controls a post-priming step in PKC-dependent presynaptic plasticity

21 June 2018

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PRRT2 Is a Key Component of the Ca(2+)-Dependent Neurotransmitter Release Machinery.

21 June 2018

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The active-zone protein Munc13 controls the use-dependence of presynaptic voltage-gated calcium channels

21 June 2018

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Syntaxin opening by the MUN domain underlies the function of Munc13 in synaptic-vesicle priming

21 June 2018

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Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis

21 June 2018

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Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling

21 June 2018

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The morphological and molecular nature of synaptic vesicle priming at presynaptic active zones

21 June 2018

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Synaptic, transcriptional and chromatin genes disrupted in autism

21 June 2018

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Involvement of synaptic genes in the pathogenesis of autism spectrum disorders: the case of synapsins

21 June 2018

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21 June 2018

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21 June 2018

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Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis

21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

21 June 2018

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The membrane fusion enigma: SNAREs, Sec1/Munc18 proteins, and their accomplices--guilty as charged?

21 June 2018

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Nonconserved Ca(2+)/calmodulin binding sites in Munc13s differentially control synaptic short-term plasticity

21 June 2018

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Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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CAPS-1 and CAPS-2 are essential synaptic vesicle priming proteins.

21 June 2018

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Regulation of membrane fusion in synaptic excitation-secretion coupling: speed and accuracy matter

21 June 2018

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Munc13-1 C1 domain activation lowers the energy barrier for synaptic vesicle fusion.

21 June 2018

1 reference

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Structural basis for a Munc13-1 homodimer to Munc13-1/RIM heterodimer switch

21 June 2018

1 reference

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Augmenting neurotransmitter release by enhancing the apparent Ca2+ affinity of synaptotagmin 1

21 June 2018

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A human protein-protein interaction network: a resource for annotating the proteome

21 June 2018

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Aberrant morphology and residual transmitter release at the Munc13-deficient mouse neuromuscular synapse

21 June 2018

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SIFT: Predicting amino acid changes that affect protein function

21 June 2018

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Abnormal cerebellar signaling induces dystonia in mice.

21 June 2018

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Total arrest of spontaneous and evoked synaptic transmission but normal synaptogenesis in the absence of Munc13-mediated vesicle priming

21 June 2018

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Short-term depression at thalamocortical synapses contributes to rapid adaptation of cortical sensory responses in vivo

21 June 2018

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Differential control of vesicle priming and short-term plasticity by Munc13 isoforms

21 June 2018

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RIM1alpha forms a protein scaffold for regulating neurotransmitter release at the active zone

21 June 2018

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Beta phorbol ester- and diacylglycerol-induced augmentation of transmitter release is mediated by Munc13s and not by PKCs

21 June 2018

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An open form of syntaxin bypasses the requirement for UNC-13 in vesicle priming

21 June 2018

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Functional interaction of the active zone proteins Munc13-1 and RIM1 in synaptic vesicle priming

21 June 2018

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The role of short-term synaptic dynamics in motor control

21 June 2018

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The cerebellum-specific Munc13 isoform Munc13-3 regulates cerebellar synaptic transmission and motor learning in mice

21 June 2018

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Munc13-1 acts as a priming factor for large dense-core vesicles in bovine chromaffin cells

21 June 2018

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Definition of Munc13-homology-domains and characterization of a novel ubiquitously expressed Munc13 isoform

21 June 2018

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Munc13-1 is essential for fusion competence of glutamatergic synaptic vesicles

21 June 2018

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Synaptic depression creates a switch that controls the frequency of an oscillatory circuit

21 June 2018

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Differential expression of two novel Munc13 proteins in rat brain

21 June 2018

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Munc13-1 is a presynaptic phorbol ester receptor that enhances neurotransmitter release

21 June 2018

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Direct interaction of the rat unc-13 homologue Munc13-1 with the N terminus of syntaxin

21 June 2018

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Definition of the readily releasable pool of vesicles at hippocampal synapses

21 June 2018

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In vivo gene delivery and stable transduction of nondividing cells by a lentiviral vector

21 June 2018

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Mammalian homologues of Caenorhabditis elegans unc-13 gene define novel family of C2-domain proteins

21 June 2018

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The genetics of Caenorhabditis elegans

21 June 2018

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Excitatory and inhibitory autaptic currents in isolated hippocampal neurons maintained in cell culture

21 June 2018

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Rare UNC13B variations and risk of schizophrenia: Whole-exome sequencing in a multiplex family and follow-up resequencing and a case-control study

21 June 2018

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The Impact of Visual Perceptual Abilities on the Performance on the Wechsler Nonverbal Scale of Ability (WNV)

25 November 2018

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Dynamic control of synaptic vesicle replenishment and short-term plasticity by Ca(2+)-calmodulin-Munc13-1 signaling

25 November 2018

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Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330740

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330740

Distinct domains of complexin I differentially regulate neurotransmitter release

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330740

Analysis of synaptic transmission in Caenorhabditis elegans using an aldicarb-sensitivity assay.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330740

Interdependence of PKC-dependent and PKC-independent pathways for presynaptic plasticity

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330740

How can drug discovery for psychiatric disorders be improved?

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330740

Identification of the minimal protein domain required for priming activity of Munc13-1.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330740

A minimal domain responsible for Munc13 activity

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330740

Transient depression of excitatory synapses on interneurons contributes to epileptiform bursts during gamma oscillations in the mouse hippocampal slice

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330740

The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330740

Calmodulin and Munc13 Form a Ca2+ Sensor/Effector Complex that Controls Short-Term Synaptic Plasticity

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330740

Limit on the role of activity in controlling the release-ready supply of synaptic vesicles.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330740

Synaptic depression and cortical gain control

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5330740

STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome—Result of Japanese cohort study

25 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28192369

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Analysis of neurotransmitter release mechanisms by photolysis of caged Ca²⁺ in an autaptic neuron culture system

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28192369

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Phorbol esters modulate spontaneous and Ca2+-evoked transmitter release via acting on both Munc13 and protein kinase C

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28192369

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI90259

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28192369%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28192369%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

PubMed publication ID

28192369

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28192369%20AND%20SRC:MED&resulttype=core&format=json