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Muscle Eye Brain Disease: Disease Bioinformatics

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.

Muscle Eye Brain Disease Bioinformatics Tool

Laverne is a handy bioinformatics tool to help facilitate scientific exploration of related genes, diseases and pathways based on co-citations. Explore more on Muscle Eye Brain Disease below! For more information on how to use Laverne, please read the How to Guide.
Vizit™, under license from BioVista Inc.

Top Research Reagents

We have 239 products for the study of Muscle Eye Brain Disease that can be applied to Western Blot, Chromatin Immunoprecipitation, Immunocytochemistry/Immunofluorescence, Flow Cytometry, Immunohistochemistry from our catalog of antibodies and ELISA kits.

7414-GT


Species Human

1 Publication
NBP1-33383
Western Blot: FKTN Antibody [NBP1-33383] - Sample (30 ug of whole cell lysate) A: H1299 B: Hela 10% SDS PAGE; antibody diluted at 1:1000.Immunocytochemistry/Immunofluorescence: FKTN Antibody [NBP1-33383] - Methanol-fixed HeLa, using FKTN antibody at 1:200 dilution.

Rabbit Polyclonal
Species Human
Applications WB, ICC/IF

H00079147-Q01
12.5% SDS-PAGE Stained with Coomassie Blue.


Species Human

NBP2-14868
Western Blot: Dystroglycan Antibody [NBP2-14868] - Various tissue extracts (30 ug) were separated by 7.5% SDS-PAGE, and the membrane was blotted with Dystroglycan Antibody diluted at 1:500. The HRP-conjugated anti-rabbit IgG antibody (NBP2-19301) was used to detect the primary antibody.Immunocytochemistry/Immunofluorescence: Dystroglycan Antibody [NBP2-14868] - HeLa cells were fixed in 4% paraformaldehyde at RT for 15 min. Green: Dystroglycan protein stained by Dystroglycan antibody 38) diluted at 1:1000. Red: alpha Tubulin, a cytoskeleton marker, stained by alpha Tubulin antibody [B-5-1-2]  diluted at 1:10000. Blue: Hoechst 33342 staining.

Rabbit Polyclonal
Species Human, Mouse, Equine
Applications WB, ICC/IF, IHC

2 Publications
H00010585-Q01
12.5% SDS-PAGE Stained with Coomassie Blue.


Species Human

NBP1-86152
Western Blot: POMT2 Antibody [NBP1-86152] - Lane 1: NIH-3T3 cell lysate (Mouse embryonic fibroblast cells). Lane 2: NBT-II cell lysate (Rat Wistar bladder tumor cells).Immunohistochemistry-Paraffin: POMT2 Antibody [NBP1-86152] - Staining of human prostate shows strong granular cytoplasmic positivity in glandular cells.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, IHC, IHC-P

NBP1-49865
Western Blot: LARGE Antibody [NBP1-49865] - Analysis of LARGE (aa421-433) in Human Kidney lysate (35ug protein in RIPA buffer) using NBP1-49865 at 1 ug/ml. Primary incubation was 1 hour. Detected by chemiluminescence.

Goat Polyclonal
Species Human
Applications WB, PEP-ELISA

1 Publication
NBP1-89953
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.Immunohistochemistry-Paraffin: Dystrophin Antibody [NBP1-89953] - Staining of human heart muscle shows strong membranous positivity in myocytes.

Rabbit Polyclonal
Species Human, Mouse
Applications ICC/IF, IHC, IHC-P

3 Publications
NBP1-85630
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.Immunohistochemistry-Paraffin: Choline kinase alpha Antibody [NBP1-85630] -  Staining of human gastrointestinal shows moderate cytoplasmic positivity in glandular cells.

Rabbit Polyclonal
Species Human
Applications WB, IHC, IHC-P

1 Publication
8184-CK


Species Human

AF550
Agrin was detected in perfusion fixed frozen sections of mouse kidney using Goat Anti-Rat Agrin Antigen Affinity-purified Polyclonal Antibody (Catalog # AF550) at 0.1 µg/mL overnight at 4 °C. Tissue was stained using the Northern­Lights™ 557-conjugated Anti-Goat IgG Secondary Antibody (red; Catalog # <A class=NoLineLink href=Recombinant Rat Agrin (Catalog # <A class=NoLineLink href=

Goat Polyclonal
Species Rat
Applications WB, IHC, ELISA(Cap)

     1 Review

2 Publications
NBP2-80513

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, IHC, IHC-P

NBP2-67375
Western Blot: ERG Antibody (SP06-04) [NBP2-67375] - Analysis of ERG on Jurkat cell lysates using anti-ERG antibody at 1/1,000 dilution.Immunocytochemistry/Immunofluorescence: ERG Antibody (SP06-04) [NBP2-67375] - Staining ERG in CRC cells (green). The nuclear counter stain is DAPI (blue). Cells were fixed in paraformaldehyde, permeabilised with 0.25% Triton X100/PBS.

Rabbit Monoclonal
Species Human, Mouse, Rat
Applications WB, ChIP, ICC/IF