(Q36839043)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23406870%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

title

Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23406870%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

4

1 reference

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23 February 2020

Francesco Paonessa

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23406870%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Fabrizia Cesca

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23406870%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Marta Orlando

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23406870%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Flavia Valtorta

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23406870%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

10

Patrick Cossette

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23406870%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

author name string

Gabriele Lignani

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23406870%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Andrea Raimondi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23406870%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Enrico Ferrea

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23406870%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Tatiana Tkatch

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23406870%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Pietro Baldelli

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23406870%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Fabio Benfenati

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23406870%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

publication date

12 February 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23406870%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23406870%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

volume

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23406870%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

page(s)

2186-2199

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23406870%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23406870%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

23 February 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3652419/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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

1 reference

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Alterations of GABAergic signaling in autism spectrum disorders

29 September 2017

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Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

29 September 2017

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The synapsins: key actors of synapse function and plasticity.

29 September 2017

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A postsynaptic signaling pathway that may account for the cognitive defect due to IL1RAPL1 mutation.

29 September 2017

1 reference

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The highly conserved synapsin domain E mediates synapsin dimerization and phospholipid vesicle clustering

29 September 2017

1 reference

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Convulsing toward the pathophysiology of autism

29 September 2017

1 reference

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29 September 2017

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Synapsin IIa controls the reserve pool of glutamatergic synaptic vesicles

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

Neuroligins and neurexins link synaptic function to cognitive disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

Discharge of the readily releasable pool with action potentials at hippocampal synapses

29 September 2017

1 reference

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A guided tour into subcellular colocalization analysis in light microscopy

29 September 2017

1 reference

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Mice lacking Dlx1 show subtype-specific loss of interneurons, reduced inhibition and epilepsy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

Different presynaptic roles of synapsins at excitatory and inhibitory synapses.

29 September 2017

1 reference

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29 September 2017

1 reference

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Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy

29 September 2017

1 reference

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X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

Killing the messenger: new insights into nonsense-mediated mRNA decay

29 September 2017

1 reference

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A phospho-switch controls the dynamic association of synapsins with synaptic vesicles

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

Synapsins as regulators of neurotransmitter release

29 September 2017

1 reference

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Glutamate, GABA and epilepsy

29 September 2017

1 reference

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Synapsin I deficiency results in the structural change in the presynaptic terminals in the murine nervous system

29 September 2017

1 reference

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Short-term synaptic plasticity is altered in mice lacking synapsin I.

29 September 2017

1 reference

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Two components of transmitter release at a central synapse

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

Essential functions of synapsins I and II in synaptic vesicle regulation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

Impairment of synaptic vesicle clustering and of synaptic transmission, and increased seizure propensity, in synapsin I-deficient mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

Impairment of axonal development and of synaptogenesis in hippocampal neurons of synapsin I-deficient mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

The structure of the human synapsin I gene and protein

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

Synapsin selectively controls the mobility of resting pool vesicles at hippocampal terminals.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

Synaptic and extrasynaptic origin of the excitation/inhibition imbalance in the hippocampus of synapsin I/II/III knockout mice

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

Examining size-strength relationships at hippocampal synapses using an ultrastructural measurement of synaptic release probability

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

Opposite changes in glutamatergic and GABAergic transmission underlie the diffuse hyperexcitability of synapsin I-deficient cortical networks

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

Local dendritic activity sets release probability at hippocampal synapses.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

Synapsin II desynchronizes neurotransmitter release at inhibitory synapses by interacting with presynaptic calcium channels.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

Site-specific synapsin I phosphorylation participates in the expression of post-tetanic potentiation and its enhancement by BDNF.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

Cortico-hippocampal hyperexcitability in synapsin I/II/III knockout mice: age-dependency and response to the antiepileptic drug levetiracetam.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

Alterations in frontal lobe tracts and corpus callosum in young children with autism spectrum disorder.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

Synapsin-I- and synapsin-II-null mice display an increased age-dependent cognitive impairment.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

Optical postsynaptic measurement of vesicle release rates for hippocampal synapses undergoing asynchronous release during train stimulation.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

The kinetics of synaptic vesicle pool depletion at CNS synaptic terminals

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

Synapsin controls both reserve and releasable synaptic vesicle pools during neuronal activity and short-term plasticity in Aplysia.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

Released fraction and total size of a pool of immediately available transmitter quanta at a calyx synapse.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

Impairment of inhibitory synaptic transmission in mice lacking synapsin I.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652419

Lack of synapsin I reduces the readily releasable pool of synaptic vesicles at central inhibitory synapses

5 September 2018

1 reference

12 December 2020

[The behavioral disorders in epilepsy]

1 reference

12 December 2020

Synapsins contribute to the dynamic spatial organization of synaptic vesicles in an activity-dependent manner

1 reference

12 December 2020

Transduction of a gene expression cassette using advanced generation lentiviral vectors

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDT071

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23406870%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23406870%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23406870%20AND%20SRC:MED&resulttype=core&format=json