Open AccessTelomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome
Author(s) -
Raneem Habib,
Ryong Kim,
Heidemarie Neitzel,
Ilja Demuth,
Krystyńa Chrzańowska,
E Seemanová,
R Faber,
Martin Digweed,
Reinhard Voß,
Kathrin Jäger,
Karl Sperling,
Michael Walter
Publication year - 2020
Publication title -
aging
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.473
H-Index - 90
ISSN - 1945-4589
DOI - 10.18632/aging.103453
Subject(s) - nijmegen breakage syndrome , telomere , attrition , phenotype , genetics , biology , medicine , dna , dna damage , gene , ataxia telangiectasia , dentistry
Nibrin, as part of the NBN/MRE11/RAD50 complex, is mutated in Nijmegen breakage syndrome (NBS), which leads to impaired DNA damage response and lymphoid malignancy.
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