(Q44307899)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12575948%20AND%20SRC:MED&resulttype=core&format=json

18 December 2019

title

SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity (English)

1 reference

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18 December 2019

9

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18 December 2019

Huda Zoghbi

10

1 reference

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18 December 2019

author name string

Seung Yun Yoo

1

1 reference

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18 December 2019

Mark E Pennesi

2

1 reference

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18 December 2019

Edwin J Weeber

3

1 reference

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18 December 2019

Bisong Xu

4

1 reference

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18 December 2019

Richard Atkinson

5

1 reference

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18 December 2019

Shiming Chen

6

1 reference

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18 December 2019

Dawna L Armstrong

7

1 reference

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18 December 2019

Samuel M Wu

8

1 reference

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18 December 2019

language of work or name

English

0 references

publication date

1 February 2003

1 reference

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18 December 2019

1 reference

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18 December 2019

volume

37

1 reference

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18 December 2019

page(s)

383-401

1 reference

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18 December 2019

issue

3

1 reference

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Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype

18 December 2019

cites work

1 reference

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7 January 2021

Distribution of ataxin-7 in normal human brain and retina

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7 January 2021

Familial infantile cerebellar atrophy associated with retinal degeneration

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7 January 2021

Rods and cones in the mouse retina. I. Structural analysis using light and electron microscopy

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7 January 2021

Ret 4, a positive acting rhodopsin regulatory element identified using a bovine retina in vitro transcription system

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7 January 2021

Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes

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7 January 2021

Olivopontocerebellar atrophy in children: a report of seven cases in two families

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7 January 2021

Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice.

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7 January 2021

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

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7 January 2021

Olivopontocerebellar atrophy with visual disturbances. An ophthalmologic investigation into four generations

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7 January 2021

Light damage in the rat retina: glial fibrillary acidic protein accumulates in Müller cells in correlation with photoreceptor damage

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7 January 2021

Identification of genes that modify ataxin-1-induced neurodegeneration.

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7 January 2021

Retinopathy and attenuated circadian entrainment in Crx-deficient mice.

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7 January 2021

Polyglutamine-expanded ataxin-7 promotes non-cell-autonomous purkinje cell degeneration and displays proteolytic cleavage in ataxic transgenic mice.

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7 January 2021

Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1.

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7 January 2021

Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease

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7 January 2021

Cerebellar-macular abiotrophy.

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7 January 2021

Retinopathy induced in mice by targeted disruption of the rhodopsin gene

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7 January 2021

Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation

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7 January 2021

Sisters homozygous for the spinocerebellar ataxia type 6 (SCA6)/CACNA1A gene associated with different clinical phenotypes

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7 January 2021

Unique features of the CAG repeats in Machado-Joseph disease

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7 January 2021

Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7

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7 January 2021

G-protein cascades: gain and kinetics

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7 January 2021

Homozygous inheritance of the Machado-Joseph disease gene

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7 January 2021

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

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7 January 2021

Neurological abnormalities in a knock-in mouse model of Huntington's disease

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7 January 2021

Expression analysis of ataxin-7 mRNA and protein in human brain: evidence for a widespread distribution and focal protein accumulation

1 reference

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7 January 2021

UV- and midwave-sensitive cone-driven retinal responses of the mouse: a possible phenotype for coexpression of cone photopigments

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7 January 2021

Mice lacking G-protein receptor kinase 1 have profoundly slowed recovery of cone-driven retinal responses

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7 January 2021

Identification and localization of ataxin-7 in brain and retina of a patient with cerebellar ataxia type II using anti-peptide antibody.

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7 January 2021

Vertebrate photoreceptor cell development and disease.

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7 January 2021

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

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7 January 2021

Pathways to photoreceptor cell death in inherited retinal degenerations

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7 January 2021

A photoreceptor-specific cadherin is essential for the structural integrity of the outer segment and for photoreceptor survival

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7 January 2021

Transient activation of cyclic AMP-dependent protein kinase during hippocampal long-term potentiation.

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7 January 2021

Olivopontocerebellar degeneration. Clinicopathologic correlation of the associated retinopathy

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7 January 2021

Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy?

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7 January 2021

A reliable two-dimensional gel electrophoresis procedure for separating neural proteins.

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7 January 2021

Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures

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7 January 2021

Homozygosity for Machado-Joseph disease gene enhances phenotypic severity

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7 January 2021

Cloning and expression analysis of the murine homolog of the spinocerebellar ataxia type 7 (SCA7) gene

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7 January 2021

Toward a molecular explanation for long-term potentiation.

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7 January 2021

Olivopontocerebellar atrophy with retinal degeneration. An electroretinographic and histopathologic investigation

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7 January 2021

Olivopontocerebellar atrophy with retinal degeneration. A clinical and ocular histopathologic study

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7 January 2021

Impaired synaptic plasticity in mice carrying the Huntington's disease mutation

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7 January 2021

Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotype

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7 January 2021

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

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7 January 2021

Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice

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7 January 2021

SCA7 mouse models show selective stabilization of mutant ataxin-7 and similar cellular responses in different neuronal cell types

1 reference

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7 January 2021

Mouse and fly models of neurodegeneration

1 reference

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7 January 2021

Glutamine repeats and neurodegeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0896-6273%2802%2901190-X

7 January 2021

Short-term synaptic plasticity

1 reference

https://api.crossref.org/works/10.1016%2FS0896-6273%2802%2901190-X

7 January 2021

10.1016/S0896-6273(02)01190-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12575948%20AND%20SRC:MED&resulttype=core&format=json

18 December 2019

1 reference