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Article

Characterization of FANCL variants observed in patient cancer cells.

Bioscience reports - 26 Jun 2020

Frost Mark G, Mazloumi Aboukheili Amir Mahdi, Toth Rachel, Walden Helen

Abstract excerpt

Fanconi Anemia (FA) is a rare genetic disorder characterized by developmental defects, bone marrow failure and high predisposition to cancer. The FA DNA repair pathway is required in humans to coordinate repair of DNA interstrand cross-links. The central event in the activation of the pathway is the monoubiquitination of FANCD2 and FANCI by the E2-E3 pair, Ube2T-FANCL, with the central UBC-RWD (URD) domain of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32420600
DOI: 10.1042/BSR20191304
PMCID: PMC7273913

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