GJA8 Blocking Peptide, Blocking Peptides
- Known as:
- GJA8 Blocking Peptide, Blocking Peptides
- Catalog number:
- 33R-2381
- Product Quantity:
- 100 ug
- Category:
- -
- Supplier:
- Fitzgerald
- Gene target:
- GJA8 Blocking Peptide Peptides
Related genes to: GJA8 Blocking Peptide, Blocking Peptides
- Gene:
- GJA8 NIH gene
- Name:
- gap junction protein alpha 8
- Previous symbol:
- CAE1, CZP1, CAE
- Synonyms:
- CX50
- Chromosome:
- 1q21.2
- Locus Type:
- gene with protein product
- Date approved:
- 1995-11-29
- Date modifiied:
- 2016-10-05
Related products to: GJA8 Blocking Peptide, Blocking Peptides
Related articles to: GJA8 Blocking Peptide, Blocking Peptides
- Precise post-transcriptional regulation of gene expression is essential for vertebrate lens development. Disruption of the gene encoding the RNA-binding protein CELF1 leads to early-onset cataract in mice. Here, using iCLIP-seq in lenses, we mapped transcriptome-wide CELF1-binding sites, revealing interactions with the 3'UTRs of key transcripts involved in lens development and pathology like Gja8, , Maf, Pax6, or Prox1. Integrated analysis with transcriptomic data and luciferase reporter assays demonstrated that binding of CELF1 protein represses its target mRNAs by destabilizing transcripts and/or inhibiting their translation. Indeed, the cataract-linked genes and are upregulated in -cKO lenses. In , overexpression of maf resulted in abnormal lens structure and eye morphology, confirming the developmental relevance of CELF1-mediated repression. Our findings uncover a post-transcriptional network in which CELF1 controls lens morphogenesis by limiting the expression of critical genes at the mRNA level to achieve their proper dosage. - Source: PubMed
Publication date: 2026/08/05
Viet JustineDuot MatthieuMéreau AgnèsAudic YannJan IwanReboutier DavidGoff-Gaillard Catherine LeCoomson Sarah YLachke Salil AGautier-Courteille CarolePaillard Luc - ATG16L1 (autophagy related 16 like 1) is a core macroautophagy/autophagy protein essential for autophagosome formation. It also functions in non-canonical autophagy pathways such as LC3-associated phagocytosis (LAP) and in other processes including immunity, inflammation, and membrane trafficking. This review synthesizes recent advances and proposes that ATG16L1 functions as a central molecular integrator governed by a multi-layered regulatory code. This framework includes genetic polymorphisms, transcriptional control, and diverse post-transcriptional and post-translational mechanisms. We detail how these regulatory layers collectively fine-tune ATG16L1 function in response to cellular stress. Dysregulation of this network contributes broadly to human diseases including inflammatory bowel disease, cancer, and neurodegenerative disorders. Notably, the functional impact of specific regulatory events is highly context dependent, a principle exemplified by the Crohn disease-associated T300A polymorphism. Deciphering this regulatory landscape and its crosstalk with both autophagy-dependent and autophagy-independent functions positions ATG16L1 as a pivotal node in cellular homeostasis and as an emerging therapeutic target. ATG: autophagy related; CASM: conjugation of Atg8-family proteins to single membranes; CCD: coiled-coil domain; CEBPA/CEBPα: CCAAT enhancer binding protein alpha; CHUK/IKKA: component of inhibitor of nuclear factor kappa B kinase complex; circRNA: circular RNA; CPT1A: carnitine palmitoyltransferase 1A; CREB: cAMP responsive element binding protein; CSNK2: casein kinase 2; FTO: FTO alpha-ketoglutarate dependent dioxygenase; GJA8/connexin 50: gap junction protein alpha 8; H/R: hypoxia-reoxygenation; HDAC: histone deacetylase; KAT2B/PCAF: lysine acetyltransferase 2B; KDM1A: lysine demethylase 1A; LAP: LC3-associated phagocytosis; lncRNA: long non-coding RNA; LRRK2: leucine rich repeat kinase 2; mA: N6-methyladenosine; MAP1LC3/LC3: microtubule associated protein 1 light chain 3; miRNA/MIR: microRNA; Mtb: ; ncRNA: non-coding RNA; PE: phosphatidylethanolamine; PI3K: phosphoinositide 3-kinase; PRKA/PKA: protein kinase cAMP-activated; PPP1: protein phosphatase 1; RAB33B: RAB33B, member RAS oncogene family; RB1CC1/FIP200: RB1 inducible coiled-coil 1; SETD7: SET domain containing 7, histone lysine methyltransferase; SQSTM1/p62: sequestosome 1; TNF/TNF-α: tumor necrosis factor; ULK: unc-51 like autophagy activating kinase; V-ATPase: vacuolar-type H-translocating ATPase; VDR: vitamin D receptor; WIPI2B: WD repeat domain, phosphoinositide interacting 2B; YTHDF2: YTH N6-methyladenosine RNA binding protein F2; ZDHHC7: zDHHC palmitoyltransferase 7. - Source: PubMed
Publication date: 2026/05/14
Wei FujingLiu ZhenzhenYu XiaoyingSun YinqiZhao YuanyuanWang YuFeng ZilingZhao XiaozhuKe XiaoxueYang AiminCui Hongjuan - The aim of this study was to gain insight into the molecular spectrum of anophthalmia and microphthalmia (A/M) in the Egyptian population. - Source: PubMed
Publication date: 2026/01/20
Elmakkawy GehadNabil AmiraNabil KarimAmin Asmaa KenawyMaskill DavidAli ManirSchorderet DanielBayoumi NaderShakankiri NihalAbdalla Ebtesam - PurposeAnterior Segment Dysgenesis (ASD) encompasses a heterogeneous group of congenital ocular malformations resulting from disrupted differentiation of neural crest-derived tissues. These disorders frequently lead to developmental glaucoma, a major cause of childhood blindness. This review summarizes the current clinical, genetic, and management perspectives on ASD associated with glaucoma.MethodsA comprehensive literature search of PubMed, Scopus, and Web of Science (January 2000-August 2025) identified 186 relevant studies reporting clinical, molecular, and therapeutic findings. Data were synthesized across major ASD subtypes: aniridia, Axenfeld-Rieger anomaly, Peters anomaly, primary aphakia, and related entities.ResultsMutations in key transcriptional and structural genes-including -account for the majority of ASD cases. Novel associations involving have broadened the known genetic spectrum. Genotype-phenotype correlations explain the variability in glaucoma onset and treatment response among subtypes. Modern diagnostic strategies integrating anterior segment imaging with next-generation sequencing have improved early detection and prognostic accuracy. Management requires individualized surgical and medical approaches based on the underlying genetic mechanism.ConclusionASD-associated glaucoma exemplifies the interface between developmental genetics and clinical ophthalmology. Understanding gene-specific mechanisms aids precision diagnosis, risk stratification, and multidisciplinary care. Continued advances in molecular diagnostics and targeted therapies promise to transform outcomes for children with congenital anterior segment anomalies. Collaborative registries and functional genomics will be pivotal in translating molecular discoveries into targeted therapies and improved lifelong vision outcomes. - Source: PubMed
Publication date: 2026/04/05
Saha Bhawesh ChandraSinha Bibhuti PrassanKumari RashmiOnkar AbhishekSinha Rajnee - Congenital cataract is a major cause of blindness and severe visual impairment in children. It may occur as an isolated ocular abnormality or in combination with microcornea, microphthalmia, aniridia, or glaucoma. It can also be part of syndromic conditions. Whole-exome sequencing (WES) is now recognized as an appropriate first-line approach for genetic testing in patients with congenital cataract. In this study, we use WES to characterize the genotype spectrum in a pediatric cataract cohort from southern China. - Source: PubMed
Publication date: 2026/02/26
Huang TengSun Hai-SenLiu Ya-NanXie Qiu-LingLiu YangMiao Xue-ChuanWu WenhuiLi Jin