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Leber Congenital Amaurosis: Disease Bioinformatics

Research of Leber Congenital Amaurosis has been linked to Amaurosis, Blind Vision, Retinitis Pigmentosa, Retinal Degeneration, Retinal Diseases. The study of Leber Congenital Amaurosis has been mentioned in research publications which can be found using our bioinformatics tool below. Researched pathways related to Leber Congenital Amaurosis include Localization, Pathogenesis, Phototransduction, Transport, Cell Death. These pathways complement our catalog of research reagents for the study of Leber Congenital Amaurosis including antibodies and ELISA kits against RPE65, GUCY2D, CLTA, PTPRC, RETINAL DYSTROPHY.

Leber Congenital Amaurosis 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 Leber Congenital Amaurosis 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 2584 products for the study of Leber Congenital Amaurosis that can be applied to Chromatin Immunoprecipitation, Flow Cytometry, Immunocytochemistry/Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

CEP290 Antibody
NB100-86991
Western Blot: CEP290 Antibody [NB100-86991] - Representative examples of immunoblot images of purified olfactory cilia. Three distinct cilia preparations each from LRBA-KO and WT mice (age, 4 weeks) were blotted in parallel (10 ug protein each), along with an OE and a brain sample (50 ug protein each), all shown at the same exposure. Image collected and cropped by CiteAb from the following publication (http://www.nature.com/articles/s41598-017-08543-4) licensed under a CC-BY licence.Immunocytochemistry/Immunofluorescence: CEP290 Antibody [NB100-86991] - NBF-fixed asynchronous HeLa cells. Antibody used at a dilution of 1:500.

Rabbit Polyclonal
Species Human, Mouse
Applications WB, ICC/IF, IP

10 Publications
Lebercilin Antibody
NBP1-55416
Western Blot: Lebercilin Antibody [NBP1-55416] - HepG2 cell lysate, concentration 0.2-1 ug/ml.

Rabbit Polyclonal
Species Human
Applications WB

1 Publication
RPE Antibody
NBP1-56853
Western Blot: RPE Antibody [NBP1-56853] - Human Muscle lysate, concentration 0.2-1 ug/ml.Immunocytochemistry/Immunofluorescence: RPE Antibody [NBP1-56853] - Antibody 0 Formalin Fixed Paraffin Embedded Tissue: Human Adult Liver Observed Staining: Cytoplasm but only in connective tissue cells in the interlobular septum, very low tissue distribution Primary Antibody

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

RPGR Antibody
NBP1-84412
Immunohistochemistry-Paraffin: RPGR Antibody [NBP1-84412] - Staining of human liver shows moderate to strong cytoplasmic positivity in hepatocytes.Immunohistochemistry-Paraffin: RPGR Antibody [NBP1-84412] - Staining of human testis shows moderate cytoplasmic positivity in cells in seminiferous ducts.

Rabbit Polyclonal
Species Human
Applications IHC, IHC-P

2 Publications
AIPL1 Antibody (OTI3B4)
NBP2-01327
Western Blot: AIPL1 Antibody (3B4) [NBP2-01327] Analysis of extracts (35ug) from 9 different cell lines by using anti-AIPL1 monoclonal antibody.Immunocytochemistry/Immunofluorescence: AIPL1 Antibody (3B4) [NBP2-01327] - Staining of COS7 cells transiently transfected by pCMV6-ENTRY AIPL1.

Mouse Monoclonal
Species Human, Mouse, Rat
Applications WB, Flow, ICC/IF

Clathrin light chain + heavy chain Antibody
NBP1-05035
Western Blot: Clathrin light chain + heavy chain Antibody [NBP1-05035] - (0.1ug/ml) staining of Human Frontal Cortex lysate (35ug protein in RIPA buffer). Detected by chemiluminescence.Immunohistochemistry-Paraffin: Clathrin light chain + heavy chain Antibody [NBP1-05035] - (2.5ug/ml) staining of paraffin embedded Human Spleen. Steamed antigen retrieval with citrate buffer pH 6, AP-staining.

Goat Polyclonal
Species Human, Rat
Applications WB, IHC, IHC-P

3 Publications
LRAT Antibody (M34-P1F10) - BSA Free
NBP2-50444
Western Blot: LRAT Antibody (M34-P1F10) [NBP2-50444] - Shows detection of LRAT in an overexpression lysate.Immunocytochemistry/Immunofluorescence: LRAT Antibody (M34-P1F10) [NBP2-50444]

Mouse Monoclonal
Species Human
Applications WB, ELISA, ICC/IF

CRX/CORD2 Antibody (4G11)
H00001406-M02
Western Blot: CRX/CORD2 Antibody (4G11) [H00001406-M02] - Analysis of CRX expression in transfected 293T cell line by CRX monoclonal antibody (M02), clone 4G11.Lane 1: CRX transfected lysate(32 KDa).Lane 2: Non-transfected lysate.Immunocytochemistry/Immunofluorescence: CRX/CORD2 Antibody (4G11) [H00001406-M02] - Retinal development is recapitulated in differentiating stem cells. Immunostaining of day 49 cultures shows remnants of retinal organization. CRX+ photoreceptor progenitors in green and mCherry+ RGCs in magenta. CRX+ cells - white arrows - appear to segregate from mCherry+ axons, suggesting division between the outer nuclear layer and the nerve fiber layer. Scale bar?=?500?um. Image collected and cropped by CiteAb from the following publication (http://www.nature.com/articles/srep16595), licensed under a CC-BY licence.

Mouse Monoclonal
Species Human, Mouse, Bovine
Applications WB, ChIP, ELISA

19 Publications
GCAP1 Antibody
NBP2-55158
Immunohistochemistry-Paraffin: GCAP1 Antibody [NBP2-55158] - Staining of human liver shows no positivity in hepatocytes as expected.Immunohistochemistry-Paraffin: GCAP1 Antibody [NBP2-55158] - Staining of human duodenum shows no positivity in glandular cells as expected.

Rabbit Polyclonal
Species Human, Monkey
Applications IHC, IHC-Fr, IHC-P

1 Publication
RPGRIP1 Antibody
NBP2-55753
Immunohistochemistry-Paraffin: RPGRIP1 Antibody [NBP2-55753] - Staining of human liver shows no positivity in hepatocytes as expected.Immunohistochemistry-Paraffin: RPGRIP1 Antibody [NBP2-55753] - Staining of human eye retina shows moderate positivity in the photoreceptor layer.

Rabbit Polyclonal
Species Human
Applications IHC, IHC-P

CRB1 Antibody
NBP2-56113
Immunohistochemistry-Paraffin: CRB1 Antibody [NBP2-56113] - Staining of human retina shows cytoplasmic positivity in all layers of retina.CRB1 Antibody [NBP2-56113] -Staining of human testis shows strong cytoplasmic positivity in Leydig cells.

Rabbit Polyclonal
Species Human
Applications IHC, IHC-P

Rhodopsin Antibody (4D2)
NBP2-59690
Western Blot: Rhodopsin Antibody (4D2) [NBP2-59690] - Western Blot analysis of Human A549 cells showing detection of ~38.9kDa Rhodopsin protein using Mouse Anti-Rhodopsin Monoclonal Antibody, Clone 4D2 (NBP2-59690). Lane 1: MW ladder. Lane 2: Human A549 Cells 15 ug). Load: 15 ug. Block: 5% Skim Milk Powder in TBST. Primary Antibody: Mouse Anti-Rhodopsin Monoclonal Antibody (NBP2-59690) at 1:1000 for 2.5 hours at RT with shaking . Secondary Antibody: Goat anti-mouse IgG:HRP at 1:1000 for 1 hour at RT with shaking . Color Development: Chemiluminescent for HRP (Moss) for 5 min in RT. Predicted/Observed Size: ~38.9kDa. Other Band(s): Band appears at ~75 kDa indicating detection of the Rhodopsin dimer.Immunohistochemistry: Rhodopsin Antibody (4D2) [NBP2-59690] - Immunohistochemistry analysis using Mouse Anti-Rhodopsin Monoclonal Antibody, Clone 4D2 (NBP2-59690). Tissue: retina. Species: Mouse. Primary Antibody: Mouse Anti-Rhodopsin Monoclonal Antibody (NBP2-59690) at 1:1000. Secondary Antibody: FITC Goat Anti-Mouse (green). Counterstain: DAPI (blue) nuclear stain. Localization: Staining of photoreceptor outer segment (OS). Other layers of the retina: IS inner segment; ONL outer nuclear layer; OPL outer plexiform layer; INL inner nuclear layer; IPL inner plexiform layer; GCL ganglion cell layer..

Mouse Monoclonal
Species Amphibian, Avian, Fish
Applications WB, ELISA, ICC/IF

     1 Review

3 Publications
ERG Antibody - BSA Free
NBP2-60655
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.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.

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

CD45 Antibody (30-F11) - BSA Free
NB100-77417
Flow Cytometry: CD45 Antibody (30-F11) [NB100-77417] - Analysis of CD45 (30F11) in freshly isolated mouse (Balb C) splenocytes (1x10^6) were stained with [NB100-77417] at 1:1000 dilution and detected with FITC conjugated donkey anti-rat IgG secondary (orange). Shown with rat IgG isotype control (blue).Immunohistochemistry-Paraffin: CD45 Antibody (30-F11) [NB100-77417] - Analysis of FFPE section of mouse spleen using rat monoclonal CD45 antibody (30-F11) [NB100-77417] at 1:50 dilution. The antibody generated an expected membrane staining in the red and white pulp spleenocytes of the tested spleen section.

Rat Monoclonal
Species Human, Mouse, Rat
Applications WB, Flow, Func

     5 Reviews

38 Publications
RPE65 Antibody (401.8B11.3D9) - BSA Free
NB100-355
Western Blot: RPE65 Antibody (401.8B11.3D9) - BSA Free [NB100-355] - Subcellular localization of BEST1 and surface Ca2+-dependent Cl- current in patient-derived iPSC-RPEs. Western blots show similar BEST1 expression levels in WT and patient-derived iPSC-RPEs. Each sample was from one cell lysis (BEST1 and beta-actin, RPE65 and CRALBP were on two gels, respectively). Image collected and cropped by CiteAb from the following publication (https://elifesciences.org/articles/29914), licensed under a CC-BY licence.Immunocytochemistry/Immunofluorescence: RPE65 Antibody (401.8B11.3D9) - BSA Free [NB100-355] - Expression of eye-specific markers in the induced eye-like structures induced from lignin-added ES cells. (a) Higher-magnification image of the RPE like structure induced from ESCs after 12-day culture. (b) Immunostaining of eye- like structures. Eye- like structures induced from ESCs after 12-day culture were stained with antibodies against RPE65 (red) and nuclei were stained with DAPI solution (blue). Scale bar: a = 50 um, b,d = 200 um, c,e = 100 um. PLoS One. 2013 Jun 21;8(6):e66376. doi: 10.1371/journal.pone.0066376.

Mouse Monoclonal
Species Human, Mouse, Rat
Applications WB, Simple Western, Flow

     7 Reviews

87 Publications
Kv11.1 Antibody
NBP3-03109
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 EnhanImmunohistochemistry-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.

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

RDH12 Antibody (1E11)
H00145226-M01
Immunocytochemistry/Immunofluorescence: RDH12 Antibody (1E11) [H00145226-M01] - Analysis of monoclonal antibody to RDH12 on HeLa cell . Antibody concentration 10 ug/ml.Sandwich ELISA: RDH12 Antibody (1E11) [H00145226-M01] - Detection limit for recombinant GST tagged RDH12 is 0.3 ng/ml as a capture antibody.

Mouse Monoclonal
Species Human
Applications WB, ELISA, ICC/IF

GUCY2D Antibody
NBP3-12211
Western Blot: GUCY2D Antibody [NBP3-12211] - 1:500 antibody dilution in Diluobuffer. Immunohistochemistry-Paraffin: GUCY2D Antibody [NBP3-12211] - 1:1000 dilution in IHC blocking buffer. DAB (brown) staining and Hematoxylin QS (blue) counterstain. 40X magnification on leica DM4000. FFPE section.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, ELISA, ICC/IF


Related Genes

Leber Congenital Amaurosis has been researched against:

Related Pathways

Leber Congenital Amaurosis has been linked to:

Related Diseases

Leber Congenital Amaurosis has been studied in relation to diseases such as:

Related PTMs

Leber Congenital Amaurosis has been studied in relation to posttranslational modifications (PTMs) including:

Alternate Names

Leber Congenital Amaurosis is also known as leber congenital amaurosis, lca, leber's congenital tapetoretinal degeneration, leber's congenital tapetoretinal dysplasia, hereditary epithelial dysplasia of retina, congenital absence of the rods and cones, congenital amaurosis of retinal origin, dysgenesis neuroepithelialis retinae, amaurosis congenita of leber, type 1, heredoretinopathia congenitalis, amaurosis congenita of leber i, leber's amaurosis (disorder), amaurosis congenita of leber, amaurosis, leber congenital, lebers congenital amaurosis, hereditary retinal aplasia, intraepithelial neoplasia, neonatal hemochromatosis, retinal aplasia, leber's disease, amaurosis, crb.