(Q47619364)

4 February 2018

title

PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum. (English)

1 reference

4 February 2018

Synaptosomal-associated protein 25

main subject

1 reference

GOA release 2020-03-11

Syntaxin 1A (brain)

1 reference

Proline-rich transmembrane protein 2

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

Dan Li

9

0 references

author name string

Guo-He Tan

1

1 reference

4 February 2018

Yuan-Yuan Liu

2

1 reference

4 February 2018

Lu Wang

3

1 reference

4 February 2018

Kui Li

4

1 reference

4 February 2018

Ze-Qiang Zhang

5

1 reference

4 February 2018

Hong-Fu Li

6

1 reference

4 February 2018

Zhong-Fei Yang

7

1 reference

4 February 2018

Yang Li

8

1 reference

4 February 2018

Ming-Yue Wu

10

1 reference

4 February 2018

Chun-Lei Yu

11

1 reference

4 February 2018

Juan-Juan Long

12

1 reference

4 February 2018

Ren-Chao Chen

13

1 reference

4 February 2018

Li-Xi Li

14

1 reference

4 February 2018

Lu-Ping Yin

15

1 reference

4 February 2018

Ji-Wei Liu

16

1 reference

4 February 2018

Xue-Wen Cheng

17

1 reference

4 February 2018

Qi Shen

18

1 reference

4 February 2018

You-Sheng Shu

19

1 reference

4 February 2018

Kenji Sakimura

20

1 reference

4 February 2018

Lu-Jian Liao

21

1 reference

4 February 2018

Zhi-Ying Wu

22

1 reference

4 February 2018

Zhi-Qi Xiong

23

1 reference

4 February 2018

publication date

20 October 2017

1 reference

4 February 2018

published in

Cell Research

1 reference

4 February 2018

volume

28

1 reference

4 February 2018

page(s)

90-110

1 reference

4 February 2018

issue

1

1 reference

4 February 2018

Creative Commons Attribution 4.0 International

copyright license

start time

20 October 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1038/cr.2017.128

0 references

cites work

The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

The evolving spectrum of PRRT2-associated paroxysmal diseases

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

Synaptic Consolidation Normalizes AMPAR Quantal Size following MAGUK Loss

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

Role of Synchronous Activation of Cerebellar Purkinje Cell Ensembles in Multi-joint Movement Control.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

PRRT2 truncated mutations lead to nonsense-mediated mRNA decay in Paroxysmal Kinesigenic Dyskinesia

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

Cerebellar modules operate at different frequencies

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

T-type channel blockade impairs long-term potentiation at the parallel fiber-Purkinje cell synapse and cerebellar learning

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

Point mutation in syntaxin-1A causes abnormal vesicle recycling, behaviors, and short term plasticity

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

One-step generation of mice carrying reporter and conditional alleles by CRISPR/Cas-mediated genome engineering

22 May 2018

1 reference

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βCaMKII in lateral habenula mediates core symptoms of depression

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

PRRT2 mutations and paroxysmal disorders.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

High-resolution proteomics unravel architecture and molecular diversity of native AMPA receptor complexes

22 May 2018

1 reference

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A toolbox of Cre-dependent optogenetic transgenic mice for light-induced activation and silencing

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

Cav2.1 in cerebellar Purkinje cells regulates competitive excitatory synaptic wiring, cell survival, and cerebellar biochemical compartmentalization.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

22 May 2018

Paroxysmal dyskinesias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

Spatiotemporal firing patterns in the cerebellum.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

The neural substrates of rapid-onset Dystonia-Parkinsonism

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

Presynaptic plasticity at cerebellar parallel fiber terminals

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

Episodic neurological channelopathies

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

A low fluence Q-switched Nd:YAG laser modifies the 3D structure of melanocyte and ultrastructure of melanosome by subcellular-selective photothermolysis

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

Hyperactive putamen in patients with paroxysmal kinesigenic choreoathetosis: a resting-state functional magnetic resonance imaging study

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

Paroxysmal dyskinesias in mice

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

The diagnosis of dystonia

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

MeCP2 behaves as an elongated monomer that does not stably associate with the Sin3a chromatin remodeling complex

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

Kindling and status epilepticus models of epilepsy: rewiring the brain

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

Ataxia and paroxysmal dyskinesia in mice lacking axonally transported FGF14.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

A CamKIIalpha iCre BAC allows brain-specific gene inactivation.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

Soluble dominant-negative receptor uncovers essential roles for fibroblast growth factors in multi-organ induction and patterning

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

Effects of norepinephrine on spontaneous firing activity of cerebellar Purkinje cells in vivo in mice.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

Endothelial cell-anchored tissue factor pathway inhibitor regulates tumor metastasis to the lung in mice.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

Thalamic involvement in paroxysmal kinesigenic dyskinesia: a combined structural and diffusion tensor MRI analysis.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

Accurate protein complex retrieval by affinity enrichment mass spectrometry (AE-MS) rather than affinity purification mass spectrometry (AP-MS).

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

PRRT2 c.649dupC mutation derived from de novo in paroxysmal kinesigenic dyskinesia.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

PRRT2 mutation in Japanese children with benign infantile epilepsy.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

PRRT2 mutations are the major cause of benign familial infantile seizures.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

Neuregulin 1 represses limbic epileptogenesis through ErbB4 in parvalbumin-expressing interneurons.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

Target-dependent use of co-released inhibitory transmitters at central synapses.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

Channelopathy: hypothesis of a common pathophysiologic mechanism in different forms of paroxysmal dyskinesia.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

Triggers of paroxysmal dyskinesia in the calcium channel mouse mutant tottering

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

Cocaine-induced persistent dyskinesias

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5752836

Two faces of the same coin: benign familial infantile seizures and paroxysmal kinesigenic dyskinesia caused by PRRT2 mutations

14 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FCR.2017.128

inferred from DOI database lookup

7 January 2021

based on heuristic

Episodic movement disorders as channelopathies

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FCR.2017.128

inferred from DOI database lookup

7 January 2021

based on heuristic

Alteration of ictal and interictal perfusion in patients with paroxysmal kinesigenic dyskinesia

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FCR.2017.128

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/CR.2017.128

1 reference

4 February 2018

PMCID

5752836

1 reference

4 February 2018

PubMed ID

29056747

1 reference

4 February 2018