期刊
MOLECULAR NEUROBIOLOGY
卷 56, 期 4, 页码 2579-2589出版社
SPRINGER
DOI: 10.1007/s12035-018-1246-y
关键词
R-loops; DNA damage; Motor neuron disease; Amyotrophic lateral sclerosis; Spinal muscular atrophy
资金
- Joint Programme Neurodegenerative Disease (JPND) Research grant DAMNDPATHS (2014)
- ARISLA grant smallRNALS (2014)
- Italian Ministry of Health [RF- 2013-023555764]
- Associazione Centro Dino Ferrari
R loops are transient three-stranded nucleic acid structures that form physiologically during transcription when a nascent RNA transcript hybridizes with the DNA template strand, leaving a single strand of displaced nontemplate DNA. However, aberrant persistence of R-loops can cause DNA damage by inducing genomic instability. Indeed, evidence has emerged that R-loops might represent a key element in the pathogenesis of human diseases, including cancer, neurodegeneration, and motor neuron disorders. Mutations in genes directly involved in R-loop biology, such as SETX (senataxin), or unstable DNA expansion eliciting R-loop generation, such as C9ORF72 HRE, can cause DNA damage and ultimately result in motor neuron cell death. In this review, we discuss current advancements in this field with a specific focus on motor neuron diseases associated with deregulation of R-loop structures. These mechanisms can represent novel therapeutic targets for these devastating, incurable diseases.
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