(Q24310789)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

title

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

RE1-silencing transcription factor

25 December 2019

main subject

1 reference

GOA release 2020-03-11

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Marcus Nashelsky

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Jeffrey Axelrod

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Amos D. Korczyn

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Diane C Slusarski

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Samuel Berkovic

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Hatem El-shanti

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

author name string

Alexander G Bassuk

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Aimee Buhr

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Andrew R Buller

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Zaid Afawi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Masahito Shimojo

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Shingo Miyata

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Shan Chen

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Pedro Gonzalez-Alegre

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Hilary L Griesbach

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Shu Wu

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Eszter K Vladar

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Dragana Antic

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Polly J Ferguson

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Thomas Voit

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Matthew P Scott

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Christina Gurnett

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Azhar S Daoud

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Sara Kivity

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Miriam Y Neufeld

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Aziz Mazarib

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Rachel Straussberg

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Simri Walid

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Sebahattin Cirak

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

language of work or name

English

0 references

publication date

30 October 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

25 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

volume

83

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

page(s)

572-581

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

Prickle-1 negatively regulates Wnt/beta-catenin pathway by promoting Dishevelled ubiquitination/degradation in liver cancer

25 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

Characterization of the REST/NRSF-interacting LIM domain protein (RILP): localization and interaction with REST/NRSF

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

REST/NRSF-interacting LIM domain protein, a putative nuclear translocation receptor

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

Expression of planar cell polarity genes during development of the mouse CNS

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

Strabismus is asymmetrically localised and binds to Prickle and Dishevelled during Drosophila planar polarity patterning

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

Identification and characterization of human PRICKLE1 and PRICKLE2 genes as well as mouse Prickle1 and Prickle2 genes homologous to Drosophila tissue polarity gene prickle

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

A human genome diversity cell line panel

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

Evidence that the peptidylprolyl isomerase domain of the hsp90-binding immunophilin FKBP52 is involved in both dynein interaction and glucocorticoid receptor movement to the nucleus

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

Prickle mediates feedback amplification to generate asymmetric planar cell polarity signaling

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

Neuronal expression of zinc finger transcription factor REST/NRSF/XBR gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

A second canon. Functions and mechanisms of beta-catenin-independent Wnt signaling

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

The mood stabilizer valproate inhibits both inositol- and diacylglycerol-signaling pathways in Caenorhabditis elegans

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

Mouse Prickle1 and Prickle2 are expressed in postmitotic neurons and promote neurite outgrowth

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

Dimerization of Laforin is required for its optimal phosphatase activity, regulation of GSK3beta phosphorylation, and Wnt signaling

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

Mode of action: inhibition of histone deacetylase, altering WNT-dependent gene expression, and regulation of beta-catenin--developmental effects of valproic acid

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

Planar cell polarity signalling couples cell division and morphogenesis during neurulation.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

WNTs in the vertebrate nervous system: from patterning to neuronal connectivity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

Prickle 1 regulates cell movements during gastrulation and neuronal migration in zebrafish

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

Zebrafish prickle, a modulator of noncanonical Wnt/Fz signaling, regulates gastrulation movements.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

The mood-stabilizing agent valproate inhibits the activity of glycogen synthase kinase-3.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

Early embryonic expression patterns of the mouse Flamingo and Prickle orthologues.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

Effect of valproate derivatives on human brain myo-inositol-1-phosphate (MIP) synthase activity and amphetamine-induced rearing.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

The planar cell polarity protein Strabismus promotes Pins anterior localization during asymmetric division of sensory organ precursor cells in Drosophila.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668041

An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18976727

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

RE-1 silencer of transcription/neural restrictive silencer factor modulates ectodermal patterning during Xenopus development

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18976727

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The Effects of Central Nervous System-Active Valproic Acid Constitutional Isomers, Cyclopropyl Analogs, and Amide Derivatives on Neuronal Growth Cone Behavior

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18976727

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2008.10.003

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18976727%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

2 references