Journal article
Fanconi anemia: at the Crossroads of DNA repair
Biochemistry (Moscow), v 76(1), pp 36-48
01 Jan 2011
PMID: 21568838
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Fanconi anemia (FA) is an autosomal disorder that causes genome instability. FA patients suffer developmental abnormalities, early-onset bone marrow failure, and a predisposition to cancer. The disease is manifested by defects in DNA repair, hypersensitivity to DNA crosslinking agents, and a high degree of chromosomal aberrations. The FA pathway comprises 13 disease-causing genes involved in maintaining genomic stability. The fast pace of study of the novel DNA damage network has led to the constant discovery of new FA-like genes involved in the pathway that when mutated lead to similar disorders. A majority of the FA proteins act as signal transducers and scaffolding proteins to employ other pathways to repair DNA. This review discusses what is known about the FA proteins and other recently linked FA-like proteins. The goal is to clarify how the proteins work together to carry out interstrand crosslink repair and homologous recombination-mediated repair of damaged DNA.
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Details
- Title
- Fanconi anemia: at the Crossroads of DNA repair
- Creators
- J. S. Deakyne - Drexel UniversityA. V. Mazin - Drexel University
- Publication Details
- Biochemistry (Moscow), v 76(1), pp 36-48
- Publisher
- Springer Nature
- Number of pages
- 13
- Grant note
- 1054-09 / Leukemia and Lymphoma Society CA100839 / NIH; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA R01CA100839 / NATIONAL CANCER INSTITUTE; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Cancer Institute (NCI)
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Biochemistry and Molecular Biology
- Web of Science ID
- WOS:000287411600006
- Scopus ID
- 2-s2.0-79952753219
- Other Identifier
- 991019168847704721
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- Collaboration types
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Biochemistry & Molecular Biology