Ask about this productRelated genes to: EEA1 antibody
- Gene:
- EEA1 NIH gene
- Name:
- early endosome antigen 1
- Previous symbol:
- -
- Synonyms:
- ZFYVE2
- Chromosome:
- 12q22
- Locus Type:
- gene with protein product
- Date approved:
- 1998-12-23
- Date modifiied:
- 2016-11-09
Related products to: EEA1 antibody
Related articles to: EEA1 antibody
- Alzheimer's disease (AD) is the leading cause of dementia worldwide. Rare, truncating variants in the sortilin-related receptor 1 (SORL1) gene are well established as high-risk factors for early-onset AD, although with incomplete penetrance. In this study, we identified a novel heterozygous frameshift variant in SORL1 (c.6152delA) in a Chinese family presenting with early-onset dementia characterized by progressive memory impairment and neuropsychiatric symptoms. The variant is extremely rare in gnomAD v4 and is predicted to introduce a premature termination codon. To investigate whether the truncated SORL1 transcript escapes nonsense-mediated mRNA decay (NMD) and to explore the potential cellular effects of residual truncated SORL1, the mutant SORL1 construct was expressed in SH-SY5Y cells and APPswe-expressing HEK293 cells. Additionally, SORL1 mRNA levels in the serum of the proband and her families were assessed by qRT-PCR. Confocal microscopy was used to examine amyloid precursor protein (APP) trafficking within early endosomes, late endosomes, and the trans-Golgi network, marked by EEA1, Rab7, and TGN46, respectively. Amyloid-β (Aβ40 and Aβ42) levels were quantified by ELISA. The results showed that SORL1 mRNA levels in the proband were reduced. And the SORL1 c.6152delA variant impaired the ability of SORL1 to retain APP within the Golgi-endosomal transport network, resulting in increased Aβ production. Overall, these findings indicate that the SORL1 c.6152delA frameshift variant is a significant risk factor for AD pathogenesis. - Source: PubMed
Publication date: 2026/05/18
Jiang GegeXie GuanfengHuang LiqinSun ShangqiWang ZhihaoZhang ZhentaoXiao TingtingXiong Jing - The amyloid β (Aβ) precursor C99 (or APP-βCTF) accumulates in Alzheimer's disease and has been proposed to display Aβ-independent toxicity, notably by affecting the endosomal-lysosomal-autophagic (ELA) network. Our previous findings suggested that some ELA-associated C99 could correspond to dimeric and oligomeric species, but the intracellular sites of C99 dimerization, as well as the toxicity linked to it, remains unknown. - Source: PubMed
Publication date: 2026/05/07
Badot CélineBini AnaïsDuplan EricChecler FrédéricLauritzen Inger - Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune CNS disease that frequently causes severe optic neuritis, yet the molecular mechanisms driving retinal damage remain incompletely understood, especially across different NMOSD subgroups. Müller glial cells, which maintain retinal water-ion homeostasis through AQP4 and Kir4.1 channels, may represent a primary retinal target of circulating NMOSD-related autoantibodies and serum factors. We investigated how sera from AQP4-IgG+, MOG-IgG+, and double-seronegative (DSN) NMOSD patients affect the expression and localization of key Müller cell biomarkers. Human MIO-M1 Müller cells were stimulated with complement-inactivated patient or healthy control sera, and protein/mRNA levels of AQP4, Kir4.1, CRALBP, VEGF, and IL-6 were evaluated using immunofluorescence, Western blotting, and RT-qPCR. AQP4 membrane localization and internalization were assessed using WGA and EEA1 colocalization analyses. AQP4-IgG+ sera uniquely induced a marked reduction in AQP4 and Kir4.1 protein expression, together with mild AQP4 internalization and reduced membrane association. Despite protein loss, AQP4 and Kir4.1 transcripts were significantly upregulated, indicating a compensatory transcriptional response to antibody-mediated depletion. MOG-IgG + sera produced no major changes in the examined markers. In contrast, DSN sera selectively increased VEGF expression at both protein and mRNA levels, suggesting an alternative, antibody-independent mechanism of Müller cell activation. IL-6 expression showed non-significant changes across groups. These findings demonstrate subgroup-specific retinal glial responses to patient sera, with AQP4-IgG mediating early complement-independent loss of the AQP4-Kir4.1 water-ion channel complex, and DSN sera engaging distinct VEGF-related pathways. Our study establishes Müller cells as active contributors to NMOSD-associated retinal pathology and provides a foundation for exploring subgroup-tailored changes. - Source: PubMed
Publication date: 2026/05/04
Kabiri SahraGöloğlu İrfan BurakSezen AhmetcanTuncer CerenQureshi Mohammad HaroonÇelik Rabia Gökçen GözübatikŞahin AfsunAltıntaş Ayşe - Toxin A and B from Clostridioides difficile are the main pathogenicity factors for clinical symptoms of C. difficile infections. Receptor-mediated endocytosis and endosomal escape are required for targeting substrate proteins of the Rho-GTPase family. We previously reported that Toxin B (TcdB) affects endo-lysosomal transport and autophagic flux of target cells. These effects are independent from pathogenic Rho inhibition. Here, we aimed at further characterization of this event by immunofluorescent characterization of the vesicular structures that are affected. We found large aggregates of damaged endolysosomal structures positive for EEA1, LAMP1, CHMP4B and TcdB, as well as an increase in perinuclear concentration of non-mature autophagosomes (amphisomes) positive for SQSTM, Rab7, and LC3B. We investigated whether Rab7, a regulator of late endosome transport, is causative for decreased lysosome function. Although TcdB induced an increase in active Rab7, as tested by an RILP pull-down assay, inhibition of Rab7 did not prevent TcdB-induced decrease in cathepsin D as a surrogate for lysosome dysfunction. It also indicates that the observed increase in Rab7 positive amphisomes is secondary to lysosomal dysfunction. By applying an autoproteolytic deficient mutant of TcdB we proved that the release of the glucosyltransferase domain is mandatory for triggering all of these effects. This suggests that after membrane perforation the toxin remnants leave an open leak in endolysosomes affecting ion homeostasis. Investigation of all large clostridial glucosyltransferases and other toxins revealed lysosomal dysfunction as a general effect of many but not of all toxins that integrate into the endosome membrane. - Source: PubMed
Publication date: 2026/04/15
Langejürgen AnnaSchmidt GudulaUnsöld LeonTatge HelmaOyson EthelGerhard Ralf - Chen's Jinshui Pills (CJSP), a traditional Chinese medicinal formula, is commonly used to treat ophthalmic disorders. However, its therapeutic effects and mechanisms in diabetic retinopathy (DR) require further validation and exploration. - Source: PubMed
Publication date: 2026/04/07
Jiang YangDing JiazhenZhou ManyuYang XiangzhuLiang YaoZhao XinweiWang JingxuanLiao Yan