DNA repair and neurological disease: From molecular understanding to the development of diagnostics and model organisms

Abugable, Arwa A.; Morris, Julia L.M.; Palminha, Nelma M.; Zaksauskaite, Ringaile; Ray, Sujoy; El‐Khamisy, Sherif F.

doi:10.1016/j.dnarep.2019.102669

Cited by 37 publications

(21 citation statements)

References 233 publications

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“…In Parkinson's disease, increased levels of PARP1 accelerates the fibrillization and cytotoxicity of α-synuclein, which further activates ATM, H2AX, 53BP1, and NHEJ. In Alzheimer's disease, P53 stabilized by PARylation causes the upregulation of pro-apoptotic protein [173]. Moreover, Tau hyperphosphorylation, and abundant neurofibrillaries down-regulate DNA damage/repair pathways with abnormal BRCA1 location and cell cycle re-entry inhibition [174].…”

Section: Neurodegeneration and Premature Agingmentioning

confidence: 99%

Proteins from the DNA Damage Response: Regulation, Dysfunction, and Anticancer Strategies

Molinaro

Martoriati

Cailliau

2021

Cancers

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Cells respond to genotoxic stress through a series of complex protein pathways called DNA damage response (DDR). These monitoring mechanisms ensure the maintenance and the transfer of a correct genome to daughter cells through a selection of DNA repair, cell cycle regulation, and programmed cell death processes. Canonical or non-canonical DDRs are highly organized and controlled to play crucial roles in genome stability and diversity. When altered or mutated, the proteins in these complex networks lead to many diseases that share common features, and to tumor formation. In recent years, technological advances have made it possible to benefit from the principles and mechanisms of DDR to target and eliminate cancer cells. These new types of treatments are adapted to the different types of tumor sensitivity and could benefit from a combination of therapies to ensure maximal efficiency.

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Section: Neurodegeneration and Premature Agingmentioning

confidence: 99%

Proteins from the DNA Damage Response: Regulation, Dysfunction, and Anticancer Strategies

Molinaro

Martoriati

Cailliau

2021

Cancers

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“…In the same way, aging is attributed to the wear and tear of chromosomal ends and failing capacities of a combination of these pathways to prove the errors [ 44 , 45 ]. Furthermore, neurodegenerative disorders also seem to be the result of a combinatorial failure of more than one of these processes [ 46 , 47 ].…”

Section: Dna Damage and Dna Damage Responsementioning

confidence: 99%

DNA Damage Response and Immune Defense

Nastasi

Mannarino

D’Incalci

2020

IJMS

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DNA damage is the cause of numerous human pathologies including cancer, premature aging, and chronic inflammatory conditions. The DNA damage response (DDR), in turn, coordinates DNA damage checkpoint activation and promotes the removal of DNA lesions. In recent years, several studies have shown how the DDR and the immune system are tightly connected, revealing an important crosstalk between the two of them. This interesting interplay has opened up new perspectives in clinical studies for immunological diseases as well as for cancer treatment. In this review, we provide an overview, from cellular to molecular pathways, on how DDR and the immune system communicate and share the crucial commitment of maintaining the genomic fitness.

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“…The goal of this mini‐review was to present the most compelling evidence that support that DNA damage and repair defects occur in PD (Abugable et al, 2019). We summarize the evidence in PD models and PD patient‐derived tissue for the contribution of defects in each known DNA repair pathway, activation of the DNA damage response, and lack of mitochondrial genome integrity.…”

Section: Introductionmentioning

confidence: 99%

DNA damage and repair in Parkinson's disease: Recent advances and new opportunities

Gonzalez‐Hunt

Sanders

2020

J of Neuroscience Research

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Parkinson's disease (PD) is the most common movement neurodegenerative disorder. Although our understanding of the underlying mechanisms of pathogenesis in PD has greatly expanded, this knowledge thus far has failed to translate into disease‐modifying therapies. Therefore, it is of the utmost urgency to interrogate further the multifactorial etiology of PD. DNA repair defects cause many neurodegenerative diseases. An exciting new PD research avenue is the role that DNA damage and repair may play in neuronal death. The goal of this mini‐review was to discuss the evidence for the types of DNA damage that accumulates in PD, which has provided clues for which DNA repair pathways, such as DNA double‐strand break repair, are dysfunctional. We further highlight compelling data for activation of the DNA damage response in familial and idiopathic PD. The significance of DNA damage and repair is emerging in the PD field and linking these insights to PD pathogenesis may provide new insights into PD pathophysiology and consequently lead to new therapies.

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DNA repair and neurological disease: From molecular understanding to the development of diagnostics and model organisms

Cited by 37 publications

References 233 publications

Proteins from the DNA Damage Response: Regulation, Dysfunction, and Anticancer Strategies

Proteins from the DNA Damage Response: Regulation, Dysfunction, and Anticancer Strategies

DNA Damage Response and Immune Defense

DNA damage and repair in Parkinson's disease: Recent advances and new opportunities

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