Ask about this productRelated genes to: CLN6 Blocking Peptide
- Gene:
- CLN6 NIH gene
- Name:
- CLN6 transmembrane ER protein
- Previous symbol:
- -
- Synonyms:
- FLJ20561, HsT18960, nclf
- Chromosome:
- 15q23
- Locus Type:
- gene with protein product
- Date approved:
- 1996-10-11
- Date modifiied:
- 2019-04-23
Related products to: CLN6 Blocking Peptide
Related articles to: CLN6 Blocking Peptide
- Oxidative stress (OS) plays a role in hypertension development, but the underlying genetic mechanisms are not completely understood. This study aimed to investigate the association between OS-related genes and hypertension by performing an integrative multi-omics analysis using summary-data-based Mendelian randomization (SMR) and colocalization approaches. - Source: PubMed
Publication date: 2026/03/25
Zhang YueMeng JinyangYan YuchengTang HongZhong DonglingLi YuxiXue PeiwenZhang AnrenJin RongjiangLi Juan - Neuronal ceroid lipofuscinosis type 6 (CLN6) is a fatal, autosomal recessive neurodegenerative disorder characterized by cognitive/motor impairment, vision loss, as well as neuronal loss and gliosis in the brain, and premature death. Onset typically occurs in childhood. No approved pharmacological treatments exist that halt or reverse disease progression. A novel flupirtine benzyl carbamate was orally administered to male and female mice from 4 to 28 weeks of age to evaluate its neuroprotective and antispastic effects. Drug treatment produced significant, sex-dependent phenotypic improvements. Treated mice of both sexes exhibited reduced hindlimb spasticity, but only treated males demonstrated diminution in locomotor hyperactivity and recovery of visuospatial performance. In the brains of male and female mice, flupirtine benzyl carbamate significantly decreased astrocytosis, microgliosis and mitochondrial ATP synthase subunit C (SCMAS) accumulation, increased neuronal marker expression and reduced the number of TUNEL-positive cells. The treatment failed to rescue photoreceptor loss or clear retinal SCMAS storage. These outcomes result in distinct sex-specific differences in neuronal vulnerability and drug responsiveness. Overall, these findings demonstrate that flupirtine benzyl carbamate diminishes key motor, visual and pathological deficits in CLN6 disease, highlighting its promise as a potential disease-modifying therapy for CLN6 in humans despite sex-specific differences. - Source: PubMed
Publication date: 2026/02/28
Chaoul VictoriaShmoury OmarAlam RamySaab SaraMakoukji JoelleAridi Lynn AlMakhoul Nadine JSoueid JihaneV Carmona AngelicaSimeon PrincessTrippier Paul CBoustany Rose-Mary - Lethal prostate cancer is marked by tumor heterogeneity and resistance to androgen receptor signaling inhibitors (ARSIs). In this study we identify glycolysis as a driver of disease progression and therapy resistance. Using single-sample gene set enrichment analysis (ssGSEA) on the SU2C cohort, we demonstrate that elevated glycolysis activity is associated with poor progression-free and overall survival. The glycolysis-based prognostic score (GLY score) is derived from the HALLMARK_GLYCOLYSIS gene set which includes , , , , , and , via LASSO-Cox regression. The GLY score effectively stratifies risk in the SU2C and WDCT cohorts, with higher scores predicting worse outcomes and increased SYNE1 mutation frequency. Pan-cancer analysis across TCGA datasets confirm its prognostic value. , enzalutamide-resistant prostate cancer cell lines exhibit heightened glycolysis, and 2-DG inhibition reverses this effect, restoring drug sensitivity. knockdown reduces glycolytic activity and cell proliferation. The GLY score offers robust prognostic value, and CLN6 represents a promising therapeutic target for precision medicine in lethal prostate cancer. - Source: PubMed
Publication date: 2026/01/13
Cai ZhoudaLu JianmingMo ShanshanLiu JipuZhong ChuanfanWu YongdingZou FenYe JianhengHan ZhaodongLiang YuxiangZhang LeLiu FengpingZhong Weide - The etiology of drug-resistant epilepsy (DRE) is multifactorial. A small proportion of affected patients are diagnosed with genetics. Nowadays, specific gene panels and whole-exome sequencing (WES) have increased the opportunities for specific diagnosis and treatments with developments in genetics. In this cohort study, we determined the specific diagnostic value of gene panels and WES analysis in our cases with the diagnosis of DRE. - Source: PubMed
Publication date: 2026/01/09
Kılıç BetülTopçu YaseminAyaz AkifÖzpınar EsraSeyhan SerhatDemir Aslı G ÖPalaz MehmetTuranlı GüzideAydın Kürşad - - Source: PubMed
Publication date: 2025/12/15
Bajaj LakshyaSharma Jaiprakashdi Ronza AlbertoZhang PengchengEblimit AidenPal RiturajRoman DanyCollette John RBooth ClarissaChang Kevin TSifers Richard NJung Sung YWeimer Jill MChen RuiSchekman Randy WSardiello Marco