| 2016 |
EMC1, a member of the ER membrane protein complex (EMC), promotes SV40 polyomavirus ER-to-cytosol membrane transport and infection. EMC1 uses its predicted transmembrane residue D961 to bind to and stabilize the membrane-embedded, partially destabilized SV40 viral particle, preventing premature viral disassembly. This EMC1-dependent stabilization enables SV40 to engage a cytosolic extraction complex that ejects the virus into the cytosol, revealing EMC1 acts as a molecular chaperone for this transport step. |
Mutagenesis of transmembrane residue D961, viral infection assays, ER membrane transport assays, loss-of-function studies |
eLife |
High |
28012275
|
| 2022 |
Loss of EMC1 in endothelial cells leads to reduced expression of the Wnt receptor FZD4 on the plasma membrane, resulting in compromised β-catenin signaling activity. In-vitro and in-vivo experiments showed that this reduced Wnt/β-catenin signaling could be restored by lithium chloride (LiCl) treatment. A FEVR patient variant allele of EMC1 also failed to facilitate FZD4 plasma membrane expression and β-catenin pathway activation. |
Conditional endothelial-specific Emc1 knockout mouse, transcriptomic analysis of HRECs, in vitro expression assays for FZD4 membrane localization, LiCl rescue experiment |
Genes & diseases |
Medium |
37554197
|
| 2023 |
Rod-specific deletion of Emc1 in mice caused mislocalization of rhodopsin, decreased levels of membrane proteins and ER chaperones in retinae, and progressive degeneration of photoreceptors. Immunoblotting indicated that EMC1 regulates membrane protein levels at an early biosynthetic step before translocation into the ER. |
Rod-specific Emc1 knockout mice, electroretinogram, histopathology, immunoblotting for membrane proteins and ER chaperones |
The FEBS journal |
Medium |
37098815
|
| 2022 |
In Drosophila, EMC1 imbalance (either overexpression or knockdown) causes pupal lethality. Glia-specific alteration of EMC1 dosage led to lethality, whereas neuron-specific alterations were tolerated, indicating EMC1 function is specifically required in glia. Tested variants homologous to human disease mutations behaved as loss-of-function alleles and failed to rescue EMC1 null lethality. |
Drosophila loss-of-function and overexpression studies, glial-specific and neuronal-specific gene dosage assays, null allele rescue experiments |
Human molecular genetics |
Medium |
35234901
|
| 2024 |
In Drosophila muscle, EMC1 localizes to the sarcoplasmic reticulum (SR) network. Muscle-specific EMC1 RNAi caused severe motility defects and lethality rescued by EMC1 transgene re-expression. Depletion resulted in an altered SR network, cytosolic calcium overload, mitochondrial dysfunction (impaired membrane potential and oxidative phosphorylation capacity), and dysmorphic mitochondria, demonstrating EMC1 is required for SR integrity and ER-mitochondria contact/function in muscle. |
Muscle-specific RNAi knockdown in Drosophila, immunofluorescence localization, calcium imaging, mitochondrial membrane potential and OXPHOS assays, transgene rescue |
Biomolecules |
Medium |
39456191
|
| 2024 |
In emc1-/- zebrafish, photoreceptor outer segments were drastically smaller, outer segment protein expression was altered, hyaloid vasculature development was disrupted, and cone/rod phototransduction genes were significantly downregulated. These data establish EMC1 as required for photoreceptor outer segment morphogenesis. |
ENU-mutagenesis zebrafish emc1 knockout, visual behavior assays, retinal electrophysiology, histology, transcriptomic profiling |
FASEB journal |
Medium |
39360639
|