ArticleAging cell2020
Cockayne syndrome proteins CSA and CSB maintain mitochondrial homeostasis through NAD
Article in Aging cell, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 47 citations in OpenAlex.
- AAV-mediated gene therapy demonstrates phenotypic rescue in a mouse model of Cockayne syndrome.The Journal of clinical investigation · 2026Article
- Targeting the Mitochondrial Phenotype in Cockayne Syndrome Patient Cells: From Bioenergetic Fragility to Pharmacologic Rescue.bioRxiv : the preprint server for biology · 2026Article
- The GHK-Cu delays aging in Caenorhabditis elegans via coordinated regulation of mitochondrial function and activation of DAF-16/SKN-1 pathways.Biogerontology · 2026Article
- Pharmacologic AMPK Activation Extends Lifespan inbioRxiv : the preprint server for biology · 2026Article
- Mechanisms of transcription-coupled repair and DNA damage surveillance in health and disease.Nature reviews. Molecular cell biology · 2026Review
- Cockayne syndrome mutation in XPG activate the integrated stress response.Human genetics · 2026Article
- Unraveling the intersection of aging and Parkinson's disease: a collaborative roadmap for advancing research models.NPJ Parkinson's disease · 2026Review
- Cockayne syndrome mice reflect human kidney disease and are defective in de novo NAD biosynthesis.Cell death and differentiation · 2025Article
- Nicotinamide mononucleotide combined with PJ-34 protects microglial cells from lipopolysaccharide-induced mitochondrial impairment through NMNAT3-PARP1 axis.Journal of translational medicine · 2025Article
- A rare variation of ERCC8 gene cause Cockayne syndrome in a Chinese family.Frontiers in genetics · 2025Article
- Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome.Neurology. Clinical practice · 2024Article
- Cockayne Syndrome Linked to Elevated R-Loops Induced by Stalled RNA Polymerase II during Transcription Elongation.Nature communications · 2024Article
- Roles of NADCold Spring Harbor perspectives in medicine · 2024Review
- Preimplantation genetic testing for Cockayne syndrome with a novel ERCC6 variant in a Chinese family.Frontiers in genetics · 2024Article
- Long-term NAD+ supplementation prevents the progression of age-related hearing loss in mice.Aging cell · 2023Article
- The mitophagy pathway and its implications in human diseases.Signal transduction and targeted therapy · 2023Review
- High-Dosage NMN Promotes Ferroptosis to Suppress Lung Adenocarcinoma Growth through the NAM-Mediated SIRT1-AMPK-ACC Pathway.Cancers · 2023Article
- DNA Damage and Repair in Eye Diseases.International journal of molecular sciences · 2023Review
- Peripheral neuropathies associated with DNA repair disorders.Muscle & nerve · 2023Review
- Multifaceted roles of mitochondria in wound healing and chronic wound pathogenesis.Frontiers in cell and developmental biology · 2023Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cockayne syndrome (CS) is a rare premature aging disease, most commonly caused by mutations of the genes encoding the CSA or CSB proteins. CS patients display cachectic dwarfism and severe neurological manifestations and have an average life expectancy of 12 years. The CS proteins are involved in transcription and DNA repair, with the latter including transcription-coupled nucleotide excision repair (TC-NER). However, there is also evidence for mitochondrial dysfunction in CS, which likely contributes to the severe premature aging phenotype of this disease. While damaged mitochondria and impaired mitophagy were characterized in mice with CSB deficiency, such changes in the CS nematode model and CS patients are not fully known. Our cross-species transcriptomic analysis in CS postmortem brain tissue, CS mouse, and nematode models shows that mitochondrial dysfunction is indeed a common feature in CS. Restoration of mitochondrial dysfunction through NAD
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.