Ask about this productRelated genes to: ERCC8 antibody
- Gene:
- ERCC8 NIH gene
- Name:
- ERCC excision repair 8, CSA ubiquitin ligase complex subunit
- Previous symbol:
- CKN1
- Synonyms:
- CSA
- Chromosome:
- 5q12.1
- Locus Type:
- gene with protein product
- Date approved:
- 1995-02-07
- Date modifiied:
- 2019-04-23
Related products to: ERCC8 antibody
Related articles to: ERCC8 antibody
- Cockayne syndrome (CS) is a rare autosomal recessive transcription-coupled nucleotide excision repair disorder (/) causing progressive neuromuscular deterioration and limb contractures. We report a 10-year-old boy with CS type B () who presented with rigid bilateral equinovarus, rendering him non-ambulatory, and elevated transaminases (ALT 682 U/L, AST 183 U/L). Bilateral fractional elongation of the Achilles tendon was performed successfully; hepatotoxic agents were avoided, and opioid/sedative dosages were meticulously titrated. Recovery was uneventful; the patient regained supported standing and resumed active physiotherapy. Functional orthopedic surgery is achievable in CS via rigorous multidisciplinary coordination, providing a valuable template for perioperative risk management. - Source: PubMed
Publication date: 2026/08/23
Isneina Shadi AbuDababseh Bessan HamedGhnimat Ala'a SAbuHamdiya Lubna WWohoosh DinaDababsseh Abdallah - Cockayne Syndrome (CS) is an autosomal recessive, progressive developmental and neurodegenerative disease. Approximately 30% of cases are caused by mutations in the ERCC8/CSA gene. Patients with CS present with cutaneous photosensitivity, growth failure, shorter life span, and a progressive degeneration of the central nervous system. Loss-of-function mutations in CSA result in deficiencies in the transcription-coupled nucleotide excision repair (TC-NER). Currently, no therapies are available for these patients. Adeno-associated virus (AAV)-mediated gene therapy offers an opportunity to address this unmet need. We designed a new AAV vector encoding human CSA under a ubiquitous promoter. We tested the therapeutic efficacy of this AAV9-CSA vector by neonatal intracerebroventicular injection in the Csa-/-;Xpa-/- mouse model. Treatment with AAV9-CSA resulted in a significant increase in lifespan, and broad distribution of human CSA in the brain and heart, without evidence of vector-related toxicity. Despite clear therapeutic benefit, we also observed neuroradiological abnormalities, and neuropathologic alterations, including hypomyelination, astrocytosis, and microgliosis, as well as likely life-limiting transcriptomic alterations in liver at endpoint. Nonetheless, the success of these experiments paves the way for the first clinical translation of an AAV gene therapy for CS patients into humans. - Source: PubMed
Publication date: 2026/07/30
Batista Ana RitaScholand Aine CCallahan William SWatson McKenna KSion Cassandra MMola TylerO'Hara KennedyWentworth Simon ASena-Esteves William SKing Oliver DKing Robert MSena-Esteves Miguel - Cockayne syndrome (CS), primarily caused by autosomal recessive pathogenic variants in (CSB) or (CSA), is a transcription-coupled nucleotide excision repair disorder. CS frequently presents with features similar to primary mitochondrial disease (PMD), including leukodystrophy, lactic acidemia, and skeletal muscle mitochondrial DNA (mtDNA) depletion. How this mitochondrial phenotype arises at the cellular level, and whether it can be pharmacologically targeted, is not yet clear. - Source: PubMed
Publication date: 2026/05/26
Kose MelisMcCormick Elizabeth MKeith KelseyRemes CristinaHaroon SuraiyaNakamaru-Ogiso EikoFalk Marni J - Choosing an optimal combination of adeno-associated virus (AAV) capsid and promoter is key to achieving precise, efficient, and safe gene delivery. However, the limited packaging capacity of AAV can make incorporating large transgenes with strong promoters challenging. To address this, we screened several promoter designs derived from portions of the 5' untranslated regions (UTRs) of the human and DNA repair genes to generate a novel 126-base pair (bp) mini-promoter (CP040). We evaluated the expression capabilities of CP040 and its components and demonstrated that intravenous (i.v.) administration of AAVDJ vector harboring enhanced green fluorescent protein () driven by the CP040 promoter (AAVDJ-) in neonatal mice resulted in strong central nervous system (CNS) expression 6 weeks later. CP040 expression was compared with the chicken beta actin (CBA), human elongation factor 1 alpha (EF1α), and human synapsin 1 (hSYN) promoters following intracerebroventricular (ICV) and intrathecal (IT) AAVDJ administrations. The CP040 mini-promoter yielded comparable expression levels to CBA and hSYN promoters and higher levels than EF1α, with lower off-target expression in liver and kidneys. These initial characterizations support CP040 as a promising candidate to enhance AAV-mediated gene therapy targeting the CNS when cargo sequences cannot fit within AAV size constraints. - Source: PubMed
Publication date: 2026/01/29
Chauhan MonikaDaugherty Audrey LKhadir Fatemeh EllieDuzenli Ozgun FHoffman AlexandraWan OliviaTinklenberg Jennifer AKang Peter BAslanidi GeorgePacak Christina A - Cockayne syndrome is an ultra-rare (1:2.5 million) hereditary disease from the group of progeroid syndromes caused by pathogenic and probable-pathogenic variants in DNA repair genes (ERCC8, ERCC6, XPB (ERCC3), XPD (ERCC2) and XPG (ERCC5)) and characterized by abnormal photosensitivity, congenital cataract, microcephaly, sensorineural hearing loss, nervous system pathology and other multisystem changes. In this manuscript, for the first time in the Russian Federation, we present the results of a clinical and genetic study and follow-up of a Russian cohort of patients. - Source: PubMed
Publication date: 2026/03/07
Kungurtseva A LPopovich A VTikhonovich Yu VIvannikova T EKovalskaia V AVasiliev P AVitebskaya A V