Loss of Proteostasis Is a Pathomechanism in Cockayne Syndrome.
Sign Up to like & getrecommendations! Published in 2018 at "Cell reports"
DOI: 10.1016/j.celrep.2018.04.041
Abstract: Retarded growth and neurodegeneration are hallmarks of the premature aging disease Cockayne syndrome (CS). Cockayne syndrome proteins take part in the key step of ribosomal biogenesis, transcription of RNA polymerase I. Here, we identify a… read more here.
Keywords: cockayne syndrome; rna polymerase; pathomechanism; loss proteostasis ... See more keywords
Rat Model of Cockayne Syndrome Neurological Disease.
Sign Up to like & getrecommendations! Published in 2019 at "Cell reports"
DOI: 10.1016/j.celrep.2019.09.028
Abstract: Cockayne syndrome (CS) is a rare genetic neurodevelopmental disorder, characterized by a deficiency in transcription-coupled subpathway of nucleotide excision DNA repair (TC-NER). Mutation of the Cockayne syndrome B (CSB) gene affects basal transcription, which is… read more here.
Keywords: cockayne syndrome; model cockayne; disease; syndrome neurological ... See more keywords
Cockayne Syndrome B Protein Selectively Resolves and Interact with Intermolecular DNA G-Quadruplex Structures.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of the American Chemical Society"
DOI: 10.1021/jacs.1c10745
Abstract: Guanine-rich DNA can fold into secondary structures known as G-quadruplexes (G4s). G4s can form from a single DNA strand (intramolecular) or from multiple DNA strands (intermolecular), but studies on their biological functions have been often… read more here.
Keywords: dna; cockayne syndrome; g4s; csb ... See more keywords
Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations
Sign Up to like & getrecommendations! Published in 2022 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-022-02257-1
Abstract: Background Cockayne syndrome (CS) is a rare autosomal recessive disorder caused by mutations in ERCC6/CSB or ERCC8/CSA that participate in the transcription-coupled nucleotide excision repair (TC-NER) of UV-induced DNA damage. CS patients display a large… read more here.
Keywords: cockayne syndrome; carrying csa; patients siblings; mutation ... See more keywords
A stable XPG protein is required for proper ribosome biogenesis: Insights on the phenotype of combinate Xeroderma Pigmentosum/Cockayne Syndrome patients
Sign Up to like & getrecommendations! Published in 2022 at "PLoS ONE"
DOI: 10.1371/journal.pone.0271246
Abstract: 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… read more here.
Keywords: pigmentosum cockayne; xeroderma pigmentosum; ribosome biogenesis; cockayne syndrome ... See more keywords
Cockayne Syndrome: The many challenges and approaches to understand a multifaceted disease
Sign Up to like & getrecommendations! Published in 2020 at "Genetics and Molecular Biology"
DOI: 10.1590/1678-4685-gmb-2019-0085
Abstract: Abstract The striking and complex phenotype of Cockayne syndrome (CS) patients combines progeria-like features with developmental deficits. Since the establishment of the in vitro culture of skin fibroblasts derived from patients with CS in the… read more here.
Keywords: cockayne syndrome; challenges approaches; many challenges; syndrome many ... See more keywords
Statistical Approach of the Role of the Conserved CSB-PiggyBac Transposase Fusion Protein (CSB-PGBD3) in Genotype-Phenotype Correlation in Cockayne Syndrome Type B
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.762047
Abstract: 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… read more here.
Keywords: cockayne syndrome; piggybac; phenotype correlation; csb ... See more keywords
Role of Cockayne Syndrome Group B Protein in Replication Stress: Implications for Cancer Therapy
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms231810212
Abstract: A variety of endogenous and exogenous insults are capable of impeding replication fork progression, leading to replication stress. Several SNF2 fork remodelers have been shown to play critical roles in resolving this replication stress, utilizing… read more here.
Keywords: dna; role; replication; replication stress ... See more keywords