Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Cellular and biochemical impact of a mutation in DNA ligase IV conferring clinical radiosensitivity.

The Journal of biological chemistry - 17 Aug 2001

Riballo E, Doherty A J, Dai Y, Stiff T, Oettinger M A, Jeggo P A, Kysela B

Abstract excerpt

DNA ligase IV functions in DNA non-homologous end-joining, in V(D)J recombination, and during brain development. We previously reported a homozygous mutation (R278H) in DNA ligase IV in a developmentally normal leukemia patient who overresponded to radiotherapy. The impact of this hypomorphic mutation has been evaluated using cellular, biochemical, and structural approaches. Structural modeling using T7 DNA...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adenosine Monophosphate
Share to DNA Ligase ATP

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Ligases

Share to DNA Repair

Share to Models, Structural

Share to Radiation Tolerance

Share to Structure-Activity Relationship

Share to Temperature

Source

Identifiers

PMID: 11349135
DOI: 10.1074/jbc.M103866200

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cellular and biochemical impact of a mutation in DNA ligase IV conferring clinical radiosensitivity.PMID 11349135Read ↗

Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms.Semantic proximity Read ↗

Structural and Functional Interaction between the Human DNA Repair Proteins DNA Ligase IV and XRCC4Semantic proximity Read ↗

DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.Semantic proximity Read ↗

Ligase IV syndrome.Semantic proximity Read ↗

DNA ligase IV syndrome; a review.Semantic proximity Read ↗

Identification of a novel motif in DNA ligases exemplified by DNA ligase IV.Semantic proximity Read ↗

A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.Semantic proximity Read ↗

Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient.Semantic proximity Read ↗

Structures of DNA-bound human ligase IV catalytic core reveal insights into substrate binding and catalysis.Semantic proximity Read ↗

Altered DNA ligase activity in human diseaseSemantic proximity Read ↗

Deficiency of ligase IV leads to reduced NHEJ, accumulation of DNA damage, and can sensitize cells to cancer therapeuticsSemantic proximity Read ↗

Impact of DNA ligase IV on the fidelity of end joining in human cells.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.