(Q22003756)

spinocerebellar ataxia type 7

GOA release 2020-03-11

1 reference

M D Kaytor

1

M D

Kaytor

1 reference

7 February 2023

L A Duvick

2

L A

Duvick

1 reference

7 February 2023

P J Skinner

3

P J

Skinner

1 reference

7 February 2023

M D Koob

4

M D

Koob

1 reference

7 February 2023

L P Ranum

5

L P

Ranum

1 reference

7 February 2023

H T Orr

6

H T

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

Orr

1 reference

7 February 2023

language of work or name

English

0 references

publication date

September 1999

0 references

published in

Human Molecular Genetics

0 references

volume

8

0 references

page(s)

1657-64

0 references

issue

9

0 references

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

Intranuclear neuronal inclusions in Huntington's disease and dentatorubral and pallidoluysian atrophy: correlation between the density of inclusions and IT15 CAG triplet repeat length

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

Nonneural nuclear inclusions of androgen receptor protein in spinal and bulbar muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

Sequence requirements for nuclear location of simian virus 40 large-T antigen

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

A short amino acid sequence able to specify nuclear location

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

A novel macromolecular structure is a target of the promyelocyte-retinoic acid receptor oncoprotein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

Retinoic acid regulates aberrant nuclear localization of PML-RAR alpha in acute promyelocytic leukemia cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

Exit from mitosis is triggered by Tem1-dependent release of the protein phosphatase Cdc14 from nucleolar RENT complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

Cfi1 prevents premature exit from mitosis by anchoring Cdc14 phosphatase in the nucleolus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

C23 interacts with B23, a putative nucleolar-localization-signal-binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

The intranuclear location of a herpes simplex virus DNA-binding protein is determined by the status of viral DNA replication

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

inferred from DOI database lookup

7 January 2021

based on heuristic

The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657

inferred from DOI database lookup

7 January 2021

based on heuristic

Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1657