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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.

Brain Diseases, Metabolic, Inborn 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 Brain Diseases, Metabolic, Inborn below! For more information on how to use Laverne, please read the How to Guide.
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Top Research Reagents

We have 617 products for the study of Brain Diseases, Metabolic, Inborn that can be applied to Chromatin Immunoprecipitation, Flow Cytometry, Western Blot, Immunocytochemistry/Immunofluorescence, Immunohistochemistry from our catalog of antibodies and ELISA kits.

NBP2-48549
Western Blot: GCDH Antibody [NBP2-48549] - Analysis using Anti-GCDH antibody NBP2-48549 (A) shows similar pattern to independent antibody NBP2-48907 (B).Immunocytochemistry/Immunofluorescence: GCDH Antibody [NBP2-48549] - Staining of human cell line U-2 OS shows positivity in mitochondria.

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

NBP1-30287
SDS-Page: Recombinant Human GAMT Protein [NBP1-30287] - GAMT, 28.4 kDa (256aa), confirmed by MALDI-TOF with a purity of 95% by SDS - PAGE


Species Human

NB110-39113
Western Blot: Glut1 Antibody [NB110-39113] - Analysis of HeLa lysates using NB110-39113. Image courtesy of Gregg Semenza - (PMID: 21620138 ).Immunohistochemistry-Paraffin: Glut1 Antibody [NB110-39113] - Analysis of FFPE tissue section of human placenta using 1:200 dilution of Glut1 antibody. The staining was developed using HRP-DAB detection method and the sections were further counterstained with hematoxylin. This antibody generated a specific strong membrane cytoplasmic staining of Glut1 primarily in the syncytiotrophoblast layers of various villi and in the red blood cells (RBCs). Cytotrophoblasts showed a very weak expression of this protein.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, ChIP, Flow

     7 Reviews

29 Publications
NBP2-49445
Immunocytochemistry/Immunofluorescence: L2HGDH Antibody [NBP2-49445] - Immunofluorescent staining of human cell line MCF7 shows localization to mitochondria.Immunohistochemistry-Paraffin: L2HGDH Antibody [NBP2-49445] - Staining of human duodenum shows strong positivity with a granular a pattern in glandular cells.

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

7954-GM/CF


Species Human

1 Publication
NBP2-42388
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.Immunocytochemistry/Immunofluorescence: LAMC2 Antibody (CL2980) [NBP2-42388] - Staining of A-431 cells using the Anti-LAMC2 monoclonal antibody, showing specific staining in the cytosol in green. Microtubule- and nuclear probes are visualized in red and blue, respectively (where available).

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

2 Publications
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
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

NBP1-32550
Western Blot: COX5A Antibody [NBP1-32550] - Sample(30 ug whole cell lysate)A:HeLa S3 B:Hep G2 15% SDS PAGE, antibody diluted at 1:5000.Immunocytochemistry/Immunofluorescence: COX5A Antibody [NBP1-32550] -  A431.

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

2 Publications
NBP1-86996
Western Blot: ALDH5A1 Antibody [NBP1-86996] - Analysis using Anti-ALDH5A1 antibody NBP1-86996 (A) shows similar pattern to independent antibody NBP1-86997 (B).Immunocytochemistry/Immunofluorescence: ALDH5A1 Antibody [NBP1-86996] - Staining of human cell line CACO-2 shows localization to mitochondria. Antibody staining is shown in green.

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

1 Publication
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

H00001351-P01
SDS-Page: COX8A Recombinant Protein [H00001351-P01] - 12.5% SDS-PAGE Stained with Coomassie Blue.


Species Human

NBP1-81689
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).Immunocytochemistry/Immunofluorescence: ETHE1 Antibody [NBP1-81689] - Immunofluorescent staining of human cell line U-2 OS shows localization to nucleoplasm & mitochondria.

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

NBP2-24916
Western Blot: Catalase Antibody [NBP2-24916] - Analysis in liver lysate of 1) human 2) mouse and 3) rat at 0.1 ug/ml.Immunohistochemistry-Paraffin: Catalase Antibody [NBP2-24916] - Staining of human liver tissue using an isotype control (top) and this antibody (bottom) at 5 ug/ml.

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

     1 Review

6 Publications
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 (http://www.nature.com/articles/s41598-017-16327-z), licensed under a CC-BY licence.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

3 Publications
NBP1-87406
Western Blot: Adenylosuccinate Lyase Antibody [NBP1-87406] - Analysis in U2OS cells transfected with control siRNA, target specific siRNA probe #1 and #2, using Anti-ADSL antibody. Remaining relative intensity is presented. Loading control: Anti-GAPDH.Immunocytochemistry/Immunofluorescence: Adenylosuccinate Lyase Antibody [NBP1-87406] - Staining of human cell line U-251 MG shows localization to cytosol. Antibody staining is shown in green.

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

2 Publications
NBP2-52631
SDS-Page: Recombinant Human AGA Protein [NBP2-52631]


Species Human

NBP1-87311
Western Blot: PHGDH Antibody [NBP1-87311] - Analysis: NBP1-87311 (A) shows similar pattern to independent antibody NBP1-87310 (B)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
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

4 Publications

Related Genes

Brain Diseases, Metabolic, Inborn has been researched against:

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.