Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling (Q35408613)

8 August 2017

title

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

1 reference

8 August 2017

Stewart G Boyd

1 reference

8 August 2017

Kate Baker

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Detelina Grozeva

0 references

Michael A Cousin

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Sarah L Gordon

1 reference

8 August 2017

Margriet van Kogelenberg

1 reference

8 August 2017

Nicola Y Roberts

1 reference

8 August 2017

Michael Pike

1 reference

8 August 2017

Edward Blair

1 reference

8 August 2017

Matthew E Hurles

1 reference

8 August 2017

W Kling Chong

1 reference

8 August 2017

Torsten Baldeweg

1 reference

8 August 2017

Manju A Kurian

1 reference

8 August 2017

F Lucy Raymond

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8 August 2017

language of work or name

English

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publication date

23 February 2015

1 reference

Journal of Clinical Investigation

8 August 2017

published in

1 reference

8 August 2017

volume

125

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8 August 2017

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8 August 2017

page(s)

1670-1678

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Temporal lobe impairment in West syndrome: event-related potential evidence

8 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Calcium sensitive ring-like oligomers formed by synaptotagmin

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Synaptotagmin-1 and synaptotagmin-7 trigger synchronous and asynchronous phases of neurotransmitter release

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Theoretical models of synaptic short term plasticity

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

X-linked intellectual disability-associated mutations in synaptophysin disrupt synaptobrevin II retrieval

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Compromised fidelity of endocytic synaptic vesicle protein sorting in the absence of stonin 2

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Molecular machines governing exocytosis of synaptic vesicles

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

An anatomically comprehensive atlas of the adult human brain transcriptome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Distinct neuronal coding schemes in memory revealed by selective erasure of fast synchronous synaptic transmission

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Uncoupling the roles of synaptotagmin I during endo- and exocytosis of synaptic vesicles.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Spatio-temporal transcriptome of the human brain

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Synaptic vesicle exocytosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Synaptophysin is required for synaptobrevin retrieval during synaptic vesicle endocytosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Synaptophysin regulates the kinetics of synaptic vesicle endocytosis in central neurons

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Presynaptic function in health and disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Membrane penetration by synaptotagmin is required for coupling calcium binding to vesicle fusion in vivo

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Synaptotagmin-mediated bending of the target membrane is a critical step in Ca(2+)-regulated fusion

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Detection of behavioral alterations and learning deficits in mice lacking synaptophysin.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Relative roles of different mechanisms of depression at the mouse endbulb of Held

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Multiple vesicle recycling pathways in central synapses and their impact on neurotransmission

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

How synaptotagmin promotes membrane fusion.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Distinct endocytic pathways control the rate and extent of synaptic vesicle protein recycling

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Stonin 2 is an AP-2-dependent endocytic sorting adaptor for synaptotagmin internalization and recycling

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

An improved cyan fluorescent protein variant useful for FRET

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

C2A activates a cryptic Ca(2+)-triggered membrane penetration activity within the C2B domain of synaptotagmin I.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

A Gene Map of the Human Genome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Functional properties of multiple synaptotagmins in brain

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Synaptotagmin I: a major Ca2+ sensor for transmitter release at a central synapse

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Defective recycling of synaptic vesicles in synaptotagmin mutants of Caenorhabditis elegans.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Discrete residues in the c(2)b domain of synaptotagmin I independently specify endocytic rate and synaptic vesicle size

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Electrophysiological markers of visuocortical development

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Synaptotagmin I is necessary for compensatory synaptic vesicle endocytosis in vivo

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Calcium accelerates endocytosis of vSNAREs at hippocampal synapses

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Real-time measurements of vesicle-SNARE recycling in synapses of the central nervous system.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396464

Synaptotagmin 1 is necessary for the Ca2+ dependence of clathrin-mediated endocytosis

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25705886

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Paired-pulse behavior of visually evoked potentials recorded in human visual cortex using patterned paired-pulse stimulation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25705886

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Choreo-ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25705886

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI79765

1 reference

8 August 2017

1 reference

8 August 2017

1 reference