(Q41337599)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

title

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Anna C Jansen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Kathelijn Keymolen

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Arvid Suls

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Rudi Balling

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Sarah Weckhuysen

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

14

Katherine L Helbig

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

7

Tania Djémié

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

19

Peter De Jonghe

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1

Katia Hardies

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

20

Christel Depienne

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

10

Tine Deconinck

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

author name string

Yiying Cai

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Claude Jardel

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Mian Cao

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Caroline Hachon Le Camus

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Vikas Bhambhani

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Catherine Long

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Samin A Sajan

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

AR working group of the EuroEPINOMICS RES Consortium

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Ingo Helbig

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Pietro De Camilli

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

language of work or name

English

0 references

publication date

19 July 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

volume

139

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

issue

Pt 9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

page(s)

2420-2430

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

Synaptojanin cooperates in vivo with endophilin through an unexpected mechanism

19 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

VaRank: a simple and powerful tool for ranking genetic variants

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Zebrafish Cacna1fa is required for cone photoreceptor function and synaptic ribbon formation

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Spatiotemporal control of endocytosis by phosphatidylinositol-3,4-bisphosphate

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Role of dynamin, synaptojanin, and endophilin in podocyte foot processes

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Synaptic vesicle endocytosis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Fast and accurate short read alignment with Burrows-Wheeler transform

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Mutations in phosphoinositide metabolizing enzymes and human disease

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Differential requirements for clathrin in receptor-mediated endocytosis and maintenance of synaptic vesicle pools

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

The dual phosphatase activity of synaptojanin1 is required for both efficient synaptic vesicle endocytosis and reavailability at nerve terminals

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

PLINK: a tool set for whole-genome association and population-based linkage analyses

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Two synaptojanin 1 isoforms are recruited to clathrin-coated pits at different stages

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Phosphoinositides in cell regulation and membrane dynamics

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Mechanism of endophilin N-BAR domain-mediated membrane curvature

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

The synaptic vesicle cycle

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Synaptojanin is recruited by endophilin to promote synaptic vesicle uncoating

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Nonsense-mediated mRNA decay in mammalian cells involves decapping, deadenylating, and exonucleolytic activities

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Delayed reentry of recycling vesicles into the fusion-competent synaptic vesicle pool in synaptojanin 1 knockout mice

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Generation of high curvature membranes mediated by direct endophilin bilayer interactions

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Fission and uncoating of synaptic clathrin-coated vesicles are perturbed by disruption of interactions with the SH3 domain of endophilin.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Mutations in synaptojanin disrupt synaptic vesicle recycling

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Sequential steps in clathrin-mediated synaptic vesicle endocytosis.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

The SH3 domains of endophilin and amphiphysin bind to the proline-rich region of synaptojanin 1 at distinct sites that display an unconventional binding specificity

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Essential role of phosphoinositide metabolism in synaptic vesicle recycling

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

SAC1-like domains of yeast SAC1, INP52, and INP53 and of human synaptojanin encode polyphosphoinositide phosphatases

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Synaptojanin 1: localization on coated endocytic intermediates in nerve terminals and interaction of its 170 kDa isoform with Eps15

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

The SH3p4/Sh3p8/SH3p13 protein family: binding partners for synaptojanin and dynamin via a Grb2-like Src homology 3 domain

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

A presynaptic inositol-5-phosphatase

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Tubular membrane invaginations coated by dynamin rings are induced by GTP-gamma S in nerve terminals

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Identification of the major synaptojanin-binding proteins in brain

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Tissue-specific alternative splicing generates two synaptojanin isoforms with differential membrane binding properties

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology.

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

The zebrafish nrc mutant reveals a role for the polyphosphoinositide phosphatase synaptojanin 1 in cone photoreceptor ribbon anchoring.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

Synaptojanin 1 contributes to maintaining the stability of GABAergic transmission in primary cultures of cortical neurons.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995362

A sensitive assay for phosphoinositide phosphatases

19 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27435091

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Direct interaction of the 170 kDa isoform of synaptojanin 1 with clathrin and with the clathrin adaptor AP-2

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27435091

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BRAIN/AWW180

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

release_qwjme5e3ifad3dbloizg2jbooq

19 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/qwjme5e3ifad3dbloizg2jbooq

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27435091%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference