| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5510984 | DNA Repair | 2017 | 6 Pages |
Abstract
SMARCAL1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A-Like 1), also known as HARP, is an ATP-dependent annealing helicase that stabilizes replication forks during DNA damage. Mutations in this gene are the cause of Schimke immune-osseous dysplasia (SIOD), an autosomal recessive disorder characterized by T-cell immunodeficiency and growth dysfunctions. In this review, we summarize the main roles of SMARCAL1 in DNA repair, telomere maintenance and replication fork stability in response to DNA replication stress.
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Authors
Natalia Lugli, Sotirios K. Sotiriou, Thanos D. Halazonetis,