| Literature DB >> 28623093 |
Natalia Lugli1, Sotirios K Sotiriou1, Thanos D Halazonetis2.
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.Entities:
Keywords: DNA replication; DNA replication stress; SMARCAL1; Telomeres
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Year: 2017 PMID: 28623093 DOI: 10.1016/j.dnarep.2017.06.015
Source DB: PubMed Journal: DNA Repair (Amst) ISSN: 1568-7856