Home » Diseases » Brain Diseases, Metabolic, Inborn: Disease Bioinformatics
Submit your image related to Diseases to be featured!
Submit an Image

Get Social

Submit your Twitter account related to Brain Diseases, Metabolic, Inborn to be featured!
Submit an Account

Blogs

 Submit your blog on Brain Diseases, Metabolic, Inborn to be featured!
Submit a Blog

Events

 Submit your event on Brain Diseases, Metabolic, Inborn to be featured!
Submit an Event

Videos

Submit your video on Brain Diseases, Metabolic, Inborn to be featured!
Submit a Video

Charities

Submit your charity on Brain Diseases, Metabolic, Inborn to be featured!
Submit a Charity

Brain Diseases, Metabolic, Inborn: Disease Bioinformatics

Inborn metabolic brain diseases arise from disturbances in body chemistry due to an alteration in the metabolic cycle. A disturbance in the brain’s chemical environment in the form of a deficiency or the buildup of metabolites leading to the spread of toxins can lead to a metabolic disorder, which can be expressed in many forms such as impaired brain development, cerebral palsy and seizures. Inborn metabolic brain diseases can occur in the fetus due to a nutritional deficiency or alcohol use of the mother. Metabolic brain diseases can also be passed on genetically, typically in an autosomal recessive manner, but can also arise from spontaneous mutations in utero. The majority of metabolic brain diseases occur in infants. Treatment for many metabolic brain diseases is still being researched, but many doctors will attempt to restore the chemical balance of the brain in order to reverse the effects of the symptoms.

Top Research Reagents

We have 2083 products for the study of Brain Diseases, Metabolic, Inborn that can be applied to Chromatin Immunoprecipitation, Chromatin Immunoprecipitation (ChIP), Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

Recombinant Human COX8A GST (N-Term) Protein
H00001351-P01
SDS-Page: COX8A Recombinant Protein [H00001351-P01] - 12.5% SDS-PAGE Stained with Coomassie Blue.


Species Human
Applications WB, ELISA, PA

GAMT Antibody
NBP3-38293
Immunocytochemistry/ Immunofluorescence: GAMT Antibody [NBP3-38293] - Immunofluorescence analysis of U-2 OS cells using GAMT Rabbit pAb at dilution of 1:200 (40x lens). Secondary antibody: Cy3-conjugated Goat anti-Rabbit IgG (H+L) at 1:500 dilution. Blue: DAPI for nuclear staining.Immunocytochemistry/ Immunofluorescence: GAMT Antibody [NBP3-38293] - Immunofluorescence analysis of C6 cells using GAMT Rabbit pAb at dilution of 1:200 (40x lens). Secondary antibody: Cy3-conjugated Goat anti-Rabbit IgG (H+L) at 1:500 dilution. Blue: DAPI for nuclear staining.

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

SUOX Antibody - BSA Free
NBP1-32423
Western Blot: SUOX Antibody [NBP1-32423] - Sample (50 ug of whole cell lysate) A: mouse liver 7. 5% SDS PAGE; antibody diluted at 1:1000.Immunocytochemistry/Immunofluorescence: SUOX Antibody [NBP1-32423] - Analysis of methanol-fixed HepG2, using antibody at 1:200 dilution.

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

COX5A Antibody - BSA Free
NBP1-32550
Western Blot: COX5A Antibody [NBP1-32550] - Various whole cell extracts (30 ug) were separated by 15% SDS-PAGE, and the membrane was blotted with COX5A antibody [N1C3] diluted at 1:5000. The HRP-conjugated anti-rabbit IgG antibody (NBP2-19301) was used to detect the primary antibody, and the signal was developed with Trident ECL plus-Enhanced.Immunocytochemistry/Immunofluorescence: COX5A Antibody [NBP1-32550] - A431.

Rabbit Polyclonal
Species Human, Mouse, Zebrafish
Applications WB, Simple Western, ICC/IF

3 Publications
GLS2 Antibody - BSA Free
NBP1-76544
Western Blot: GLS2 Antibody [NBP1-76544] - Glutaminase protein expression in PC3 and PC3M cell lines before/after CB-839 treatment. PC3 & PC3M cells were treated (+) or not treated (-) with GLS1 inhibitor CB-839 (1 uM) and their expression of GLS1 & GLS2 proteins determined by Western blot. Antibodies specific for GAC & KCA were utilized on two replicate samples, while GLS2 expression was determined on three. PC3 cell lysates expressed GLS2 more than PC3M cell lysates regardless of CB-839 treatment. The difference in GLS2 expression was significant in the untreated cells (P?<?0.03) but because of high variability the difference was not significant in the drug-treated cells. Levels of GLS1 (GAC and KGA) were similar in all cell lysates. Image collected and cropped by CiteAb from the following publication (https://www.nature.com/articles/s41598-017-16327-z), licensed under a CC-BY license.Immunocytochemistry/Immunofluorescence: GLS2 Antibody [NBP1-76544] - of GLS2 in Human Kidney cells. Dilution 20 ug/mL.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, Simple Western, ELISA

8 Publications
ETHE1 Antibody - BSA Free
NBP1-81689
Immunohistochemistry-Paraffin: ETHE1 Antibody [NBP1-81689] - Analysis in human colon and skeletal muscle tissues. Corresponding ETHE1 RNA-seq data are presented for the same tissues.Western Blot: ETHE1 Antibody [NBP1-81689] - Lane 1: NIH-3T3 cell lysate (Mouse embryonic fibroblast cells). Lane 2: NBT-II cell lysate (Rat Wistar bladder tumor cells).

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

ALDH5A1 Antibody - BSA Free
NBP1-86996
Immunohistochemistry-Paraffin: ALDH5A1 Antibody [NBP1-86996] - Staining in human liver and pancreas tissues using anti-ALDH5A1 antibody. Corresponding ALDH5A1 RNA-seq data are presented for the same tissues.Western Blot: ALDH5A1 Antibody [NBP1-86996] - Analysis using Anti-ALDH5A1 antibody NBP1-86996 (A) shows similar pattern to independent antibody NBP1-86997 (B).

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

1 Publication
PHGDH Antibody - BSA Free
NBP1-87311
Western Blot: PHGDH Antibody [NBP1-87311] - Analysis in human cell lines SK-MEL-30 and A-549. Corresponding RNA-seq data are presented for the same cell lines. Loading control: Anti-COX4I1.Immunocytochemistry/Immunofluorescence: PHGDH Antibody [NBP1-87311] - Staining of human cell line U-2 OS shows localization to plasma membrane & cytosol. Antibody staining is shown in green.

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

7 Publications
AGA Antibody - BSA Free
NBP1-88866
Immunohistochemistry-Paraffin: AGA Antibody [NBP1-88866] - Staining in human epididymis and skeletal muscle tissues using anti-AGA antibody. Corresponding AGA RNA-seq data are presented for the same tissues.Immunohistochemistry-Paraffin: AGA Antibody [NBP1-88866] - Staining of human epididymis shows high expression.

Rabbit Polyclonal
Species Human
Applications IHC, IHC-P

1 Publication
Adenylosuccinate Lyase Antibody (OTI2D10)
NBP2-03107
Western Blot: Adenylosuccinate Lyase Antibody (OTI2D10) [NBP2-03107] - Blot showing the effect of hypoxia on the protein expression levels of the purine biosynthetic enzymes. HIF-1 alpha is stabilized in hypoxia as expected, and no significant increase in the purine enzymes was detected between normoxic (21% oxygen) and hypoxic (1% oxygen) growth conditions. The positions of molecular markers surrounding each band of interest are shown for each blot. ADSL (NBP2-03107), ATIC (NBP2-01941), FGAMS (NBP1-84691), GART (H00002618-M01), HIF-1a (NB100-449), PAICS (NBP2-02817), PPAT (NBP2-02056). Image collected and cropped by CiteAb from the following publication (//pubmed.ncbi.nlm.nih.gov/32439803/) licensed under a CC-BY license.Immunohistochemistry-Paraffin: Adenylosuccinate Lyase Antibody (OTI2D10) [NBP2-03107] - Staining of paraffin-embedded Human lymphoma tissue using anti-Adenylosuccinate Lyase mouse monoclonal antibody.

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

2 Publications
Glut1 Antibody - BSA Free
NB110-39113
Western Blot: Glut1 Antibody [NB110-39113] - PrP-mediated increase in IC iron downregulates glucose transporters in the brain, neuroretina, and the liver: A similar evaluation of retinal lysates shows upregulation of Glut1 in PrP-/- relative to Tg40 PrP samples (lanes 1 & 3). Iron overloading downregulates Glut1 in Tg40 PrP samples relative to untreated controls, but has minimal effect on similarly treated PrP-/- samples (lanes 2 & 4). Image collected and cropped by CiteAb from the following publication (https://www.nature.com/articles/s41598-018-24786-1) licensed under a CC-BY license.Western Blot: Glut1 Antibody [NB110-39113] - Western blot of GLUT1 on mouse kidney membrane protein (lane A) and rat kidney membrane protein (lane B).

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, Simple Western, ChIP

     7 Reviews

69 Publications
SLC6A8 Antibody
NBP2-11567
Western Blot: SLC6A8 Antibody [NBP2-11567] - Mouse Heart lysate (35 ug protein in RIPA buffer). Antibody at 0.1 ug/ml, 1 hr incubation. Detected by chemiluminescence.Immunohistochemistry-Paraffin: SLC6A8 Antibody [NBP2-11567] - Human kidney. Antibody at 5 ug/ml. Steamed antigen retrieval with citrate buffer pH6, AP-staining.

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

1 Publication
Catalase Antibody [Unconjugated]
AF3398
Western blot shows lysates of Jurkat human acute T cell leukemia cell line, Raji human Burkitt's lymphoma cell line, HeLa human cervical epithelial carcinoma cell line, NIH-3T3 mouse embryonic fibroblast cell line, A20 mouse B cell lymphoma cell line, and Rat-2 rat embryonic fibroblast cell line. PVDF membrane was probed with 0.5 µg/mL of Goat Anti-Human/Mouse/Rat Catalase Antigen Affinity-purified Polyclonal Antibody (Catalog # AF3398) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=Simple Western lane view shows lysates of Jurkat human acute T cell leukemia cell line and Raji human Burkitt's lymphoma cell line, loaded at 0.2 mg/mL. A specific band was detected for Catalase at approximately 62 kDa (as indicated) using 5 µg/mL of Goat Anti-Human/Mouse/Rat Catalase Antigen Affinity-purified Polyclonal Antibody (Catalog # AF3398) followed by 1:50 dilution of HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=

Goat Polyclonal
Species Human, Mouse, Rat
Applications WB, Simple Western, ICC

     3 Reviews

15 Publications
GM-CSF [Unconjugated]
7954-GM/CF
Measured in a cell proliferation assay using TF-1 human erythroleukemic cells. The ED<sub>50</sub> for this effect is 6-30 pg/mL.


Species Human
Applications BA

3 Publications
LAMC2 Antibody (CL2980) - BSA Free
NBP2-42388
Immunohistochemistry-Paraffin: LAMC2 Antibody (CL2980) [NBP2-42388] - Staining in human fallopian tube and liver tissues. Corresponding LAMC2 RNA-seq data are presented for the same tissues.Western Blot: LAMC2 Antibody (CL2980) [NBP2-42388] - Analysis in A-431 cells transfected with control siRNA, target specific siRNA probe #1 and #2, using Anti-LAMC2 antibody. Remaining relative intensity is presented. Loading control: Anti-GAPDH.

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

4 Publications
GCDH Antibody - BSA Free
NBP2-48549
Immunohistochemistry-Paraffin: GCDH Antibody [NBP2-48549] - Analysis in human liver and testis tissues using NBP2-48549 antibody. Corresponding GCDH RNA-seq data are presented for the same tissues.Immunohistochemistry-Paraffin: GCDH Antibody [NBP2-48549] - Staining of human kidney, liver, pancreas and testis using Anti-GCDH antibody NBP2-48549 (A) shows similar protein distribution across tissues to independent antibody NBP2-48907 (B).

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

CPOX Antibody (36B10) - BSA Free
NBP2-59438
Western Blot: CPOX Antibody (36B10) [NBP2-59438] - Lane 1: Recombinant protein CPOX, Lane 2: 293T cell lysates, Lane 3: HepG2 cell lysates, Lane 4: A549 cell lysates, Lane 5: Jurkat cell lysates, Lane 6: K562 cell lysates, Lane 7: LnCaP cell lysatesImmunocytochemistry/Immunofluorescence: CPOX Antibody (36B10) [NBP2-59438] - Analysis of CPOX in Hep3B cells line, stained with DAPI (Blue) for nucleus staining and monoclonal anti-human CPOX antibody (1:100) with goat anti-mouse IgG-Alexa fluor 488 conjugate (Green).

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

1 Publication
Glutamine Synthetase Antibody
NB110-41404
Western Blot: Glutamine Synthetase Antibody [NB110-41404] - Analysis of glutamine synthase. 40ug of lysates from mouse (Lanes M), rat (Lane R), pig (Lane P), bovine (Lane B), or human (Lane Hu) retina were probed. A 42 kDa band was identified in lysates from retinas of all species.Immunocytochemistry/Immunofluorescence: Glutamine Synthetase Antibody [NB110-41404] - Immunofluorescence using NB110-41404. Submitted via verified customer review.

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

     1 Review

11 Publications
L2HGDH Antibody - BSA Free
NBP3-04540
Western Blot: L2HGDH Antibody [NBP3-04540] - Western blot analysis of extracts of Mouse heart, using L2HGDH Rabbit pAb (NBP3-04540) 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: 90s.Immunocytochemistry/ Immunofluorescence: L2HGDH Antibody - BSA Free [L2HGDH] - Immunofluorescence analysis of U2OS cells using L2HGDH Rabbit pAb at dilution of 1:100. Secondary antibody: Cy3-conjugated Goat anti-Rabbit IgG (H+L) at 1:500 dilution. Blue: DAPI for nuclear staining.

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


Related Genes

Brain Diseases, Metabolic, Inborn has been researched against:

Related Pathways

Brain Diseases, Metabolic, Inborn has been linked to:

Related Diseases

Brain Diseases, Metabolic, Inborn has been studied in relation to diseases such as:

Related PTMs

Brain Diseases, Metabolic, Inborn has been studied in relation to posttranslational modifications (PTMs) including:

Alternate Names

Brain Diseases, Metabolic, Inborn is also known as Inborn Errors Of Metabolism, Brain, Inborn Metabolic Brain Diseases.