Muscle eye brain disease (MEB) is a disorder that is inherited in an autosomal recessive manner through mutations in the POMGNT1 gene. MEB is a form of congenital muscular dystrophy, and people with this disorder typically have very little control over their muscle movement. Other symptoms of MEB include vision impairments such as myopia and glaucoma, as well as brain abnormalities leading to mental disabilities and facial deformities. Muscle eye brain disease is very rare, and the severity varies on an individual basis, but most patients die between the ages of 6 and 16. However, there is currently no successful treatment for this disorder, and doctors focus mainly on preserving whatever functions the patient still has.
Top Research Reagents
We have 774 products for the study of Muscle Eye Brain Disease that can be applied to Chromatin Immunoprecipitation, Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.
![Western Blot: FKTN Antibody (7J5N6) [NBP3-15472] - Western blot analysis of extracts of various cell lines, using FKTN antibody (NBP3-15472) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit. Exposure time: 60s.](https://images.novusbio.com/fullsize/FKTN-Antibody-7J5N6-Western-Blot-NBP3-15472-img0002.jpg)
![Immunohistochemistry-Paraffin: FKTN Antibody (7J5N6) [NBP3-15472] - Immunohistochemistry of paraffin-embedded human colon using FKTN Rabbit mAb (NBP3-15472) at dilution of 1:100 (40x lens).Perform high pressure antigen retrieval with 10 mM citrate buffer pH 6.0 before commencing with IHC staining protocol.](https://images.novusbio.com/fullsize/FKTN-Antibody-7J5N6-Immunohistochemistry-Paraffin-NBP3-15472-img0001.jpg)
![Western Blot: Choline kinase alpha Antibody [NBP1-85630] - Analysis in human cell lines SK-MEL-30 and U-251MG using anti-CHKA antibody. Corresponding CHKA RNA-seq data are presented for the same cell lines. Loading control: anti-HDAC1.](https://images.novusbio.com/fullsize/Choline-kinase-alpha-Antibody-Western-Blot-NBP1-85630-img0008.jpg)
![Immunohistochemistry-Paraffin: Choline kinase alpha Antibody [NBP1-85630] - Staining of human gastrointestinal shows moderate cytoplasmic positivity in glandular cells.](https://images.novusbio.com/fullsize/Choline-kinase-alpha-Antibody-Immunohistochemistry-Paraffin-NBP1-85630-img0014.jpg)
![Immunohistochemistry-Paraffin: Dystrophin Antibody [NBP1-89953] - Staining in human skeletal muscle and tonsil tissues . Corresponding DMD RNA-seq data are presented for the same tissues.](https://images.novusbio.com/fullsize/Dystrophin-Antibody-Immunohistochemistry-Paraffin-NBP1-89953-img0010.jpg)
![Immunohistochemistry-Paraffin: Dystrophin Antibody [NBP1-89953] - Staining of human heart muscle shows strong membranous positivity in myocytes.](https://images.novusbio.com/fullsize/Dystrophin-Antibody-Immunohistochemistry-Paraffin-NBP1-89953-img0007.jpg)
![Western Blot: ERG Antibody [NBP2-60655] - Total protein from Human THP-1, Jurkat and K562 cells was separated on a 7.5% gel by SDS-PAGE, transferred to PVDF membrane and blocked in 5% non-fat milk in TBST. The membrane was probed with 2.0 ug/ml anti-ERG in blocking buffer and detected with an anti-rabbit HRP secondary antibody using chemiluminescence.](https://images.novusbio.com/fullsize/ERG-Antibody-Western-Blot-NBP2-60655-img0002.jpg)
![Immunocytochemistry/Immunofluorescence: ERG Antibody [NBP2-60655] - HeLa cells were fixed for 10 minutes using 10% formalin and then permeabilized for 5 minutes using 1X TBS + 0.5% Triton-X100. The cells were incubated with anti-ERG at 5 ug/ml overnight at 4C and detected with an anti-rabbit Dylight 488 (Green) at a 1:500 dilution. Alpha tubulin (DM1A) NB100-690 was used as a co-stain at a 1:1000 dilution and detected with an anti-mouse Dylight 550 (Red) at a 1:500 dilution. Nuclei were counterstained with DAPI (Blue). Cells were imaged using a 40X objective.](https://images.novusbio.com/fullsize/ERG-Antibody-Immunocytochemistry-Immunofluorescence-NBP2-60655-img0001.jpg)
![Western Blot: LARGE Antibody (LARGE-02) [NBP2-62211] - Analysis of LARGE1 in HEK293-LARGE1 transfectants (A) and HEK293 cells (B) using mouse monoclonal antibody (clone LARGE-02).](https://images.novusbio.com/fullsize/LARGE-Antibody-LARGE-02-Western-Blot-NBP2-62211-img0001.jpg)
![Flow Cytometry: LARGE Antibody (LARGE-02) [NBP2-62211] - Analysis of LARGE1 in HEK293-LARGE1 transfectants using mouse monoclonal antibody (clone LARGE-02) PE.](https://images.novusbio.com/fullsize/LARGE-Antibody-LARGE-02-Flow-Cytometry-NBP2-62211-img0002.jpg)
![Western Blot: Kv11.1 Antibody [NBP3-03109] - Analysis of extracts of various cell lines, using Kv11.1 antibody at 1:500 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Enhan](https://images.novusbio.com/fullsize/Kv11.1-Antibody-Western-Blot-NBP3-03109-img0004.jpg)
![Immunohistochemistry-Paraffin: Kv11.1 Antibody [NBP3-03109] - Human lung cancer using KCNH2 antibody at dilution of 1:100 (40x lens).Perform microwave antigen retrieval with 10 mM PBS buffer pH 7.2 before commencing with IHC staining protocol.](https://images.novusbio.com/fullsize/Kv11.1-Antibody-Immunohistochemistry-Paraffin-NBP3-03109-img0003.jpg)
![Western Blot: POMT2 Antibody [NBP3-12334] - 1. Rat cortex, 2. Rat heart, 3. C2C12 cells. Apparent MW is 85-90 KDa. 1:250 Dilution DilObuffer.](https://images.novusbio.com/fullsize/POMT2-Antibody-Western-Blot-NBP3-12334-img0001.jpg)
![Immunohistochemistry-Paraffin: POMT2 Antibody [NBP3-12334] - Baboon Colon.1:100 dilution in IHC blocking buffer. DAB (brown) staining and Hematoxylin QS (blue) counterstain. 40X magnification.](https://images.novusbio.com/fullsize/POMT2-Antibody-Immunohistochemistry-Paraffin-NBP3-12334-img0006.jpg)
![Immunohistochemistry-Paraffin: POMT1 Antibody [NBP3-12487] - 1:100 dilution in IHC blocking buffer. DAB (brown) staining and Hematoxylin QS (blue) counterstain. 40x magnification.](https://images.novusbio.com/fullsize/POMT1-Antibody-Immunohistochemistry-Paraffin-NBP3-12487-img0001.jpg)
