Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders

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• 作者：Linchao Lu ; Weidong Jin ; Lisa L. Wang ; ^{llwang@bcm.edu}
• 关键词：Rothmund-Thomson syndrome ; RECQL4 ; DNA damage repair ; Senescence ; Mitochondria ; Telomere
• 刊名：Ageing Research Reviews
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：33
• 期：Complete
• 页码：30-35
• 全文大小：680 K
• 卷排序：33

文摘

Rothmund-Thomson Syndrome (RTS) has clinical features reminiscent of premature aging. RECQL4 is important for genome stability and DNA damage repair. RECQL4 participates in maintenance of telomeres and mitochondrial DNA integrity. RECQL4 modulates cellular senescence. Decrease in RECQL4 function may contribute to aging phenotypes observed in RTS patients.