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Article

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

Nature - 3 Mar 2005

El-Khamisy Sherif F, Saifi Gulam M, Weinfeld Michael, Johansson Fredrik, Helleday Thomas, Lupski James R, Caldecott Keith W

Abstract excerpt

Spinocerebellar ataxia with axonal neuropathy-1 (SCAN1) is a neurodegenerative disease that results from mutation of tyrosyl phosphodiesterase 1 (TDP1). In lower eukaryotes, Tdp1 removes topoisomerase 1 (top1) peptide from DNA termini during the repair of double-strand breaks created by collision...

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Source

Identifiers

PMID: 15744309
DOI: 10.1038/nature03314

Genes

TDP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15744309-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

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Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1.PMID 15744309Read ↗

DNA single-strand break repair and spinocerebellar ataxia with axonal neuropathy-1.Semantic proximity Read ↗

TDP1-dependent DNA single-strand break repair and neurodegeneration.Semantic proximity Read ↗

SCAN1 mutant TDP1 blocks the repair of DSB induced by TOP1 activity during gene transcription and promotes genome reorganisations and cell death in quiescent cellsSemantic proximity Read ↗

SCAN1 mutant Tdp1 accumulates the enzyme--DNA intermediate and causes camptothecin hypersensitivity.Semantic proximity Read ↗

Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?Semantic proximity Read ↗

SUMO modification of the neuroprotective protein TDP1 facilitates chromosomal single-strand break repairSemantic proximity Read ↗

TDP1 mutation causing SCAN1 neurodegenerative syndrome hampers the repair of transcriptional DNA double-strand breaks.Semantic proximity Read ↗

Neurological disorders associated with DNA strand-break processing enzymes.Semantic proximity Read ↗

Tyrosyl-DNA phosphodiesterase and the repair of 3'-phosphoglycolate-terminated DNA double-strand breaks.Semantic proximity Read ↗

Human Tdp1 cleaves a broad spectrum of substrates, including phosphoamide linkages.Semantic proximity Read ↗

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.Semantic proximity Read ↗

SCAN1-TDP1 trapping on mitochondrial DNA promotes mitochondrial dysfunction and mitophagy.Semantic proximity Read ↗

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