Immunity in the Progeroid Model of Cockayne Syndrome: Biomarkers of Pathological Aging. [PDF]
CellsCockayne syndrome (CS) is a rare autosomal recessive disorder that affects the DNA repair process. It is a progeroid syndrome predisposing patients to accelerated aging and to increased susceptibility to respiratory infections.
Zayoud K +10 more
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A stable XPG protein is required for proper ribosome biogenesis: Insights on the phenotype of combinate Xeroderma Pigmentosum/Cockayne Syndrome patients. [PDF]
PLoS One, 2022 Nucleotide Excision Repair is one of the five DNA repair systems. More than 30 proteins are involved in this process, including the seven XP proteins. When mutated, the genes coding for these proteins are provoking the rare disease Xeroderma Pigmentosum,
Taupelet F +4 more
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Effects of Oxygen Tension for Membrane Lipidome Remodeling of Cockayne Syndrome Cell Models. [PDF]
Cells, 2022 Oxygen is important for lipid metabolism, being involved in both enzymatic transformations and oxidative reactivity, and is particularly influent when genetic diseases impair the repair machinery of the cells, such as described for Cockayne syndrome (CS).
Ferreri C +6 more
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Diagnostic and severity scores for Cockayne syndrome. [PDF]
Orphanet J Rare Dis, 2021 Background Cockayne syndrome is a progressive multisystem genetic disorder linked to defective DNA repair and transcription. This rare condition encompasses a very wide spectrum of clinical severity levels ranging from severe prenatal onset to mild adult-
Spitz MA +6 more
europepmc +3 more sources
Frontiers in Genetics, 2022 Cockayne syndrome is a rare condition that encompasses a very wide spectrum of clinical severity. Mutations upstream of a transposon called PiggyBac Transposable Element Derived 3 in intron 5 of the CSB/ERCC6 gene could bring about less severe forms than
Rayanne Damaj-Fourcade +8 more
doaj +2 more sources
Cells, 2021 Cockayne syndrome (CS) is a DNA repair syndrome characterized by a broad spectrum of clinical manifestations such as neurodegeneration, premature aging, developmental impairment, photosensitivity and other symptoms. Mutations in Cockayne syndrome protein
Zoi Spyropoulou +7 more
doaj +2 more sources
Cockayne syndrome type: a very rare association with hemorrhagic stroke
The Turkish Journal of Pediatrics, 2021 Background. Cockayne Syndrome (CS) is a rare autosomal recessive disorder that is mainly characterized by neurodevelopmental delay, cutaneous photosensitivity, and cachectic dwarfism.
Başak Atalay +2 more
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Hepatic Failure following Metronidazole in Children with Cockayne Syndrome
Case Reports in Pediatrics, 2020 Cockayne syndrome is an uncommon autosomal recessive disease characterized by microcephaly, abnormal growth, and pathologic premature aging. The purpose of this report is to evaluate liver failure in children with Cockayne syndrome following ...
Pedram Ataee +2 more
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Cockayne Syndrome Patient iPSC-Derived Brain Organoids and Neurospheres Show Early Transcriptional Dysregulation of Biological Processes Associated with Brain Development and Metabolism. [PDF]
CellsCockayne syndrome (CS) is a rare hereditary autosomal recessive disorder primarily caused by mutations in Cockayne syndrome protein A (CSA) or B (CSB). While many of the functions of CSB have been at least partially elucidated, little is known about the ...
Szepanowski LP +6 more
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Deep Brain Stimulation for Cockayne Syndrome-Associated Movement Disorder. [PDF]
J Mov Disord, 2022 Cockayne syndrome (CS) is a rare progeroid disorder characterized by multisystem degeneration, including neurological dysfunction, for which deep brain stimulation (DBS) is a proposed treatment.
Domino JS, Gelineau-Morel R, Kaufman C.
europepmc +2 more sources