OMNICOLL fraction collector_sampler, programmable accessories: Set for keeping two lower parts together
- Known as:
- OMNICOLL fraction collector_sampler, programmable accessories: Set keeping lower parts together
- Catalog number:
- 6912
- Category:
- -
- Supplier:
- Lamda
- Gene target:
- OMNICOLL fraction collector_sampler programmable accessories: Set for keeping two lower parts together
Related genes to: OMNICOLL fraction collector_sampler, programmable accessories: Set for keeping two lower parts together
- Gene:
- CACFD1 NIH gene
- Name:
- calcium channel flower domain containing 1
- Previous symbol:
- C9orf7
- Synonyms:
- D9S2135, flower
- Chromosome:
- 9q34.2
- Locus Type:
- gene with protein product
- Date approved:
- 1999-08-23
- Date modifiied:
- 2016-10-05
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Related articles to: OMNICOLL fraction collector_sampler, programmable accessories: Set for keeping two lower parts together
- In humans, the FLOWER (FWE or CACFD1) gene encodes a set of small, alternatively spliced transmembrane protein isoforms (hFWE1-4). The canonical human isoform, hFWE4, and its various orthologues, which we collectively refer to as FWE for simplicity, assumes a four transmembrane pass structure with cytosolic N- and C-termini. This topology exposes YXXΦ motifs enabling interaction with trafficking machinery and positions highly-conserved cationic residues for interaction with membrane phospholipids. While identified initially as a mediator of synaptic vesicle endocytosis in presynaptic neurons, FWE is now recognized as a critical mediator of endo-lysosome related organelle (ELRO) trafficking across diverse cell types including cytotoxic T-lymphocytes and epidermal keratinocytes. A unifying feature of FWE function appears to be elevation of cytosolic Ca levels. However, the underlying molecular mechanisms remain elusive. This review synthesizes current literature on FWE-mediated membrane trafficking, highlighting the evolutionary conservation of its coding sequence and tertiary structure. We propose new structure-compatible hypotheses for FWE-dependent cytosolic Ca elevation and subsequent ELRO trafficking, highlighting experimental strategies that may aid testing of these hypotheses. Finally, we examine the distinct localizations and potential functions of non-canonical FWE isoforms. - Source: PubMed
Rudd Justin CHansen Laura A - Flower, a highly conserved protein, crucial for endocytosis and cellular fitness, has been implicated in cytotoxic T lymphocyte (CTL) killing efficiency through its role in cytotoxic granule (CG) endocytosis at the immune synapse (IS). This study explores the molecular cues that govern Flower-mediated CG endocytosis by analyzing uptake of Synaptobrevin2, a protein specific to CG in mouse CTL. Using immunogold electron microscopy and total internal fluorescence microscopy, we found that Flower translocates in a stimulus-dependent manner from small vesicles to the IS, thereby ensuring specificity in CG membrane protein recycling. Using confocal live-cell imaging, we assessed the ability of a range of naturally occurring mouse, human and Drosophila isoforms to rescue defective endocytosis in Flower KO CTLs. This analysis demonstrated that the N-terminal portion of the protein, encompassing amino acids 1-106 in mice, is the minimal domain necessary for Synaptobrevin2 endocytosis. Additionally, we identified two pivotal sites through site-specific mutation: a putative AP2-binding site, and a tyrosine at position 104 in mouse Flower. These findings provide insights into Flower's specific functional domain essential for CG endocytosis, which is a key process in mediating T cell serial killing required for the effective fight against cancer. - Source: PubMed
Publication date: 2024/12/18
Ravichandran KeerthanaSchirra ClaudiaUrbansky KatjaTu Szu-MinAlawar NadiaMannebach StefanieKrause ElmarStevens DavidLancaster C Roy DFlockerzi VeitRettig JensChang Hsin-FangBecherer Ute - Comorbidities of coronavirus disease 2019 (COVID-19)/coronary heart disease (CHD) pose great threats to disease outcomes, yet little is known about their shared pathology. The study aimed to examine whether comorbidities of COVID-19/CHD involved shared genetic pathology, as well as to clarify the shared genetic variants predisposing risks common to COVID-19 severity and CHD risks. - Source: PubMed
Publication date: 2023/11/14
Wang SiyuePeng HexiangChen FengLiu ChunfangZheng QiwenWang MengyingWang JiatingYu HuanXue EnciChen XiWang XuehengFan MengQin XueyingWu YiqunLi JinYe YingChen DafangHu YonghuaWu Tao - The development of new possible treatments for C9orf72-related ALS and the possibility of early identification of subjects genetically at risk of developing the disease is creating a critical need for biomarkers to track neurodegeneration that could be used as outcome measures in clinical trials. Current candidate biomarkers in C9orf72-ALS include neuropsychology tests, imaging, electrophysiology as well as different circulating biomarkers. Neuropsychology tests show early executive and verbal function involvement both in symptomatic and asymptomatic mutation carriers. At brain MRI, C9orf72-ALS patients present diffuse white and grey matter degeneration, which are already identified up to 20 years before symptom onset and that seem to be slowly progressive over time, while regions of altered connectivity at fMRI and of hypometabolism at [18F]FDG PET have been described as well. At the same time, spinal cord MRI has also shown progressive decrease of FA in the cortico-spinal tract over time. On the side of wet biomarkers, neurofilament proteins are increased both in the CSF and serum just before symptom onset and tend to slowly increase over time, while poly(GP) protein can be detected in the CSF and probably used as target engagement marker in clinical trials. - Source: PubMed
Querin GiorgiaBiferi Maria GraziaPradat Pierre-Francois - The pathophysiology of frontotemporal dementia (FTD) is poorly understood but recent studies implicate neuroinflammation as an important factor. However, little is known so far about the role of the resolution pathway, the response to inflammation that allows tissue to return to a homeostatic state. - Source: PubMed
Sogorb-Esteve AitanaColas Romain ADalli JesmondRohrer Jonathan D