Spinocerebellar Ataxia with Axonal Neuropathy (Q37778035)

23 August 2017

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title

Spinocerebellar ataxia with axonal neuropathy (English)

1 reference

23 August 2017

main subject

spinocerebellar ataxia

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4

Mustafa A. M. Salih

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20687496

17 June 2024

6

Cornelius F. Boerkoel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20687496

17 June 2024

author name string

Cheryl Walton

1

1 reference

23 August 2017

Heidrun Interthal

2

1 reference

23 August 2017

Ryuki Hirano

3

1 reference

23 August 2017

Hiroshi Takashima

5

1 reference

23 August 2017

language of work or name

English

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publication date

1 January 2010

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full work available at URL

23 August 2017

2010

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http://link.springer.com/content/pdf/10.1007/978-1-4419-6448-9_7

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Advances in Experimental Medicine and Biology

17 June 2024

published in

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23 August 2017

volume

685

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23 August 2017

page(s)

75-83

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Nucleotide excision repair and human syndromes

23 August 2017

cites work

1

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

The role of double-strand break repair — insights from human genetics

17 June 2024

2

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Mechanisms of disease: DNA repair defects and neurological disease

17 June 2024

4

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

The contribution of the DNA damage response to neuronal viability

17 June 2024

5

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Accumulation of oxidatively generated DNA damage in the brain: a mechanism of neurotoxicity

17 June 2024

6

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

DNA repair, genome stability, and aging

17 June 2024

7

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Changes in DNA repair during aging.

17 June 2024

8

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Mitochondrial and nuclear DNA-repair capacity of various brain regions in mouse is altered in an age-dependent manner.

17 June 2024

9

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

17 June 2024

10

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Gene regulation and DNA damage in the ageing human brain

17 June 2024

11

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

The aging brain: accumulation of DNA damage or neuron loss?

17 June 2024

12

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

DNA strand breaks, neurodegeneration and aging in the brain

17 June 2024

13

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

17 June 2024

14

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

The tyrosyl-DNA phosphodiesterase Tdp1 is a member of the phospholipase D superfamily

17 June 2024

15

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

SCAN1 mutant Tdp1 accumulates the enzyme--DNA intermediate and causes camptothecin hypersensitivity

17 June 2024

16

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?

17 June 2024

17

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Yeast gene for a Tyr-DNA phosphodiesterase that repairs topoisomerase I complexes

17 June 2024

18

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

DNA strand breaks produced by oxidative stress in mammalian cells exhibit 3'-phosphoglycolate termini.

17 June 2024

19

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

DNA damage and mutagenesis by radiomimetic DNA-cleaving agents: bleomycin, neocarzinostatin and other enediynes

17 June 2024

21

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Conversion of phosphoglycolate to phosphate termini on 3' overhangs of DNA double strand breaks by the human tyrosyl-DNA phosphodiesterase hTdp1

17 June 2024

22

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Deficiency in 3'-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1)

17 June 2024

23

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

DNA topoisomerases: structure, function, and mechanism

17 June 2024

24

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Mechanism of action of eukaryotic DNA topoisomerase I and drugs targeted to the enzyme

17 June 2024

25

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

A model for the mechanism of human topoisomerase I

17 June 2024

26

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Repair of and checkpoint response to topoisomerase I-mediated DNA damage

17 June 2024

27

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Topoisomerase I-mediated DNA damage

17 June 2024

28

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Processing of topoisomerase I cleavable complexes into DNA damage by transcription.

17 June 2024

31

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Processing of nucleopeptides mimicking the topoisomerase I-DNA covalent complex by tyrosyl-DNA phosphodiesterase

17 June 2024

32

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1

17 June 2024

33

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

A eukaryotic enzyme that can disjoin dead-end covalent complexes between DNA and type I topoisomerases

17 June 2024

34

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Human Tdp1 cleaves a broad spectrum of substrates, including phosphoamide linkages

17 June 2024

35

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

A novel family of phospholipase D homologues that includes phospholipid synthases and putative endonucleases: identification of duplicated repeats and potential active site residues

17 June 2024

36

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Crystal structure of a phospholipase D family member

17 June 2024

37

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

The crystal structure of human tyrosyl-DNA phosphodiesterase, Tdp1

17 June 2024

38

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Analysis of human tyrosyl-DNA phosphodiesterase I catalytic residues

17 June 2024

39

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Insights into substrate binding and catalytic mechanism of human tyrosyl-DNA phosphodiesterase (Tdp1) from vanadate and tungstate-inhibited structures

17 June 2024

40

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

In vitro complementation of Tdp1 deficiency indicates a stabilized enzyme-DNA adduct from tyrosyl but not glycolate lesions as a consequence of the SCAN1 mutation

17 June 2024

41

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

TDP1 facilitates chromosomal single-strand break repair in neurons and is neuroprotective in vivo

17 June 2024

42

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Multiple endonucleases function to repair covalent topoisomerase I complexes in Saccharomyces cerevisiae

17 June 2024

43

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

glaikit is essential for the formation of epithelial polarity and neuronal development.

17 June 2024

44

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Repair of topoisomerase I covalent complexes in the absence of the tyrosyl-DNA phosphodiesterase Tdp1.

17 June 2024

45

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Yeast Tdp1 and Rad1-Rad10 function as redundant pathways for repairing Top1 replicative damage

17 June 2024

46

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Synergistic decrease of DNA single-strand break repair rates in mouse neural cells lacking both Tdp1 and aprataxin

17 June 2024

47

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Increased expression and activity of repair genes TDP1 and XPF in non-small cell lung cancer

17 June 2024

48

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

DNA strand break repair and human genetic disease

17 June 2024

49

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Tyrosyl-DNA phosphodiesterase as a target for anticancer therapy

17 June 2024

50

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Crystal structure of a transition state mimic for Tdp1 assembled from vanadate, DNA, and a topoisomerase I-derived peptide

17 June 2024

52

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Explorations of peptide and oligonucleotide binding sites of tyrosyl-DNA phosphodiesterase using vanadate complexes

17 June 2024

53

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Inhibition of human tyrosyl-DNA phosphodiesterase by aminoglycoside antibiotics and ribosome inhibitors

17 June 2024

54

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

Novel high-throughput electrochemiluminescent assay for identification of human tyrosyl-DNA phosphodiesterase (Tdp1) inhibitors and characterization of furamidine (NSC 305831) as an inhibitor of Tdp1

17 June 2024

55

1 reference

https://api.crossref.org/works/10.1007/978-1-4419-6448-9_7

17 June 2024

Identifiers

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