The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin (Q28190324)

GOA release 2020-03-11

1 reference

C Barbot

0 references

P Coutinho

0 references

M C Moreira

0 references

N Tachi

0 references

N Kozuka

0 references

E Uchida

0 references

T Gibson

0 references

P Mendonça

0 references

M Costa

0 references

J Barros

0 references

T Yanagisawa

0 references

M Watanabe

0 references

Y Ikeda

0 references

M Aoki

0 references

T Nagata

0 references

J Sequeiros

0 references

M Koenig

Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia

0 references

language of work or name

English

0 references

publication date

October 2001

0 references

0 references

0 references

0 references

189-93

0 references

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG1001-189

7 January 2021

Recessive ataxia with ocular apraxia: review of 22 Portuguese patients

1 reference

https://api.crossref.org/works/10.1038%2FNG1001-189

7 January 2021

Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1038%2FNG1001-189

7 January 2021

Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): a new disease.

1 reference

https://api.crossref.org/works/10.1038%2FNG1001-189

7 January 2021

Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): clinical and neuropathological features of a Japanese family.

1 reference

https://api.crossref.org/works/10.1038%2FNG1001-189

7 January 2021

Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FNG1001-189

7 January 2021

XRCC1 stimulates human polynucleotide kinase activity at damaged DNA termini and accelerates DNA single-strand break repair

1 reference

https://api.crossref.org/works/10.1038%2FNG1001-189

7 January 2021

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

1 reference

https://api.crossref.org/works/10.1038%2FNG1001-189

7 January 2021

Molecular cloning of the human gene, PNKP, encoding a polynucleotide kinase 3'-phosphatase and evidence for its role in repair of DNA strand breaks caused by oxidative damage

1 reference

https://api.crossref.org/works/10.1038%2FNG1001-189

7 January 2021

Molecular characterization of a human DNA kinase

1 reference

https://api.crossref.org/works/10.1038%2FNG1001-189

7 January 2021

The histidine triad superfamily of nucleotide-binding proteins

1 reference

https://api.crossref.org/works/10.1038%2FNG1001-189

7 January 2021

XRCC1 polypeptide interacts with DNA polymerase beta and possibly poly (ADP-ribose) polymerase, and DNA ligase III is a novel molecular 'nick-sensor' in vitro

1 reference

https://api.crossref.org/works/10.1038%2FNG1001-189

7 January 2021

DNA ligase III is recruited to DNA strand breaks by a zinc finger motif homologous to that of poly(ADP-ribose) polymerase. Identification of two functionally distinct DNA binding regions within DNA ligase III.

1 reference

https://api.crossref.org/works/10.1038%2FNG1001-189

7 January 2021

A model for the tertiary structure of the 28 residue DNA-binding motif ('zinc finger') common to many eukaryotic transcriptional regulatory proteins

1 reference

https://api.crossref.org/works/10.1038%2FNG1001-189

7 January 2021

Strange bedfellows in even stranger places: the role of ATM in meiotic cells, lymphocytes, tumors, and its functional links to p53.

1 reference

https://api.crossref.org/works/10.1038%2FNG1001-189

7 January 2021

DNA-PK, ATM and ATR as sensors of DNA damage: variations on a theme?

1 reference

https://api.crossref.org/works/10.1038%2FNG1001-189

7 January 2021

The many substrates and functions of ATM

1 reference

https://api.crossref.org/works/10.1038%2FNG1001-189

7 January 2021

ATM and ATR: networking cellular responses to DNA damage

1 reference

https://api.crossref.org/works/10.1038%2FNG1001-189

7 January 2021

SMART: a web-based tool for the study of genetically mobile domains

1 reference

https://api.crossref.org/works/10.1038%2FNG1001-189

7 January 2021

Identifiers

DOI

10.1038/NG1001-189

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

11586300

1 reference

Consolidated OpenCitations Corpus – April 2017