Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. (Q41654108)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28288114%20AND%20SRC:MED&resulttype=core&format=json

5 April 2020

title

Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans (English)

1 reference

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5 April 2020

1 reference

GOA release 2020-03-11

Ataxin 1

1 reference

Capicua transcriptional repressor

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Qiumin Tan

2

1 reference

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5 April 2020

Maxime Rousseaux

3

1 reference

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5 April 2020

Szu-Ying Yeh

8

1 reference

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5 April 2020

Maria H Chahrour

15

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5 April 2020

Richard H. Finnell

16

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5 April 2020

Maria E Zurita-Jimenez

18

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5 April 2020

Kwame Anyane-Yeboa

20

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5 April 2020

Julien Thevenon

25

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5 April 2020

Harry T. Orr

32

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5 April 2020

Christian P Schaaf

36

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Huda Zoghbi

37

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5 April 2020

author name string

Hsiang-Chih Lu

1

1 reference

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5 April 2020

Wei Wang

4

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5 April 2020

Ji-Yoen Kim

5

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Ronald Richman

6

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5 April 2020

Ying-Wooi Wan

7

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Xiuyun Liu

10

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5 April 2020

Tao Lin

11

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Yoontae Lee

12

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John D Fryer

13

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5 April 2020

Jing Han

14

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Yunping Lei

17

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Priyanka Ahimaz

19

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Lionel Van Maldergem

21

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Daphne Lehalle

22

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Nolwenn Jean-Marcais

23

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Anne-Laure Mosca-Boidron

24

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Margot A Cousin

26

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Della E Bro

27

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Brendan C Lanpher

28

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Eric W Klee

29

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Nora Alexander

30

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Matthew N Bainbridge

31

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Roy V Sillitoe

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M Cecilia Ljungberg

34

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Jay M Patel

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Zhandong Liu

35

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language of work or name

English

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publication date

13 March 2017

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5 April 2020

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5 April 2020

volume

49

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issue

4

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5 April 2020

page(s)

527-536

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Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior

5 April 2020

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RAS-MAPK-MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1

6 June 2018

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6 June 2018

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6 June 2018

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Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability

6 June 2018

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6 June 2018

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6 June 2018

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Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

6 June 2018

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Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua

6 June 2018

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ATXN1 protein family and CIC regulate extracellular matrix remodeling and lung alveolarization

6 June 2018

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6 June 2018

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

6 June 2018

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Structural MRI of pediatric brain development: what have we learned and where are we going?

6 June 2018

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Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis

6 June 2018

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Cux1 and Cux2 regulate dendritic branching, spine morphology, and synapses of the upper layer neurons of the cortex

6 June 2018

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6 June 2018

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6 June 2018

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Longitudinal mapping of cortical thickness and clinical outcome in children and adolescents with attention-deficit/hyperactivity disorder

6 June 2018

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6 June 2018

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6 June 2018

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6 June 2018

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Cortical excitatory neurons and glia, but not GABAergic neurons, are produced in the Emx1-expressing lineage.

6 June 2018

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Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1.

6 June 2018

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6 June 2018

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6 June 2018

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Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

6 June 2018

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Structure, function, and plasticity of hippocampal dentate gyrus microcircuits

6 June 2018

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Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

18 August 2018

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18 August 2018

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Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes

18 August 2018

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ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology

18 August 2018

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Genetic targeting of principal neurons in neocortex and hippocampus of NEX-Cre mice

18 August 2018

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18 August 2018

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18 August 2018

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A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration.

18 August 2018

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SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat

18 August 2018

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Crossref

https://api.crossref.org/works/10.1038%2FNG.3808

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG.3808

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28288114%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

5 April 2020

0 references

1 reference

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5 April 2020

PubMed publication ID

28288114

1 reference