A matter of delicate balance: Loss and gain of Cockayne syndrome proteins in premature aging and cancer [PDF]
Frontiers in Aging, 2022 DNA repair genes are critical for preserving genomic stability and it is well established that mutations in DNA repair genes give rise to progeroid diseases due to perturbations in different DNA metabolic activities.
Elena Paccosi +2 more
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Deep Brain Stimulation for Cockayne Syndrome-Associated Movement Disorder [PDF]
Journal of Movement Disorders, 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.
Joseph S. Domino +2 more
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Cockayne Syndrome Linked to Elevated R-Loops Induced by Stalled RNA Polymerase II during Transcription Elongation [PDF]
Nature CommunicationsMutations in the Cockayne Syndrome group B (CSB) gene cause cancer in mice, but premature aging and severe neurodevelopmental defects in humans.
Xuan Zhang +8 more
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ATP-Dependent Chromatin Remodeler CSB Couples DNA Repair Pathways to Transcription with Implications for Cockayne Syndrome and Cancer Therapy [PDF]
CellsEfficient DNA lesion repair is crucial for cell survival, especially within actively transcribed DNA regions that contain essential genetic information.
Rabeya Bilkis +2 more
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A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8 [PDF]
Human Genome VariationCockayne syndrome (CS) is a progressive multisystem disorder characterized by growth failure, microcephaly, developmental delay, and photosensitivity. The characteristic symptoms appear during early childhood in most patients with CS. Herein, we report a
Taro Matsuoka +8 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 ...
Leon-Phillip Szepanowski +6 more
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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.
Khouloud Zayoud +10 more
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Diagnostic and severity scores for Cockayne syndrome [PDF]
Orphanet Journal of Rare Diseases, 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-
M. A. Spitz +6 more
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Clinical and genetic analysis of ERCC8-Related cockayne syndrome: hepatic dysfunction as a biomarker, anhidrosis as a rare feature, and rehabilitation outcomes for ankle contractures [PDF]
Frontiers in GeneticsObjectivesCockayne syndrome (CS), a rare hereditary neurodegenerative disorder caused by pathogenic variants in ERCC6 (CSB) and ERCC8 (CSA), often clinically overlaps with cerebral palsy (CP), leading to misdiagnosis.
Jing Chen +8 more
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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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