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Niemann-pick Diseases: Disease Bioinformatics

Niemann-Pick disease, sometimes called Classical Niemann-Pick Disease, DAF syndrome, lipoid histiocytosis (classical phosphatide), Neuronal Cholesterol Lipidosis, NPD, Ophthalmoplegia, Supraoptic Vertical, Sphingomyelinase deficiency, Sphingomyelin/cholesterol lipidosis, or Sphingomyelin lipidosis, is an inherited condition that leads to abnormal lipid metabolism that causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. Types A, B, and C of Niemann-Pick disease exist, characterized by the genetic cause and signs and symptoms and depending on the type of Niemann-Pick disease contracted and the onset varies from infancy to adulthood. Mutations in the NPC1, NPC2, and SMPD1 genes cause Niemann-Pick disease and this condition is inherited in an autosomal recessive pattern. The incidence of Niemann-Pick disease type A and B is 1 in 250,000 and type C is 1 in 150,000 in all populations other than eastern and central Europeans, where it is 1 in 40,000. Approximately 85% of Niemann-Pick disease type A cases result in fatality by the age of 18 months, while most cases of types B and C result in patients living into teens or adulthood. There is no cure for Niemann-Pick disease but only measures such as lower cholesterol levels, some experimental drugs, and the treatment of symptoms.

Top Research Reagents

We have 5639 products for the study of Niemann-pick Diseases 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.

NOD2 Antibody (2D9) - BSA Free
NB100-524
Western Blot: NOD2 Antibody (2D9) [NB100-524] - HCMV infection induces NOD2 mRNA and protein in HFFs and U373 cells. E. U373 glioma cells were infected with HCMV Towne strain and levels of NOD1, NOD2 and GAPDH mRNAs were measured by qRT-PCR at indicated time points. F. HFFs were infected with HCMV (Towne) at MOI of 1 PFU/cell and levels of NOD2 protein and B-actin were determined 48 and 72 hpi. G. HFFs were infected with HCMV (Towne) strain at MOI of 0.03 or 3 PFU/cell and levels of NOD2 protein and B-actin were determined at 48 hpi. Quantitative data represent mean values (+/-SD) of triplicate determinations from three independent experiments (*p<0.05, **p<0.01, ***p<0.001, one-way ANOVA test). Image collected and cropped by CiteAb from the following publication (//doi.org/10.1371/journal.pone.0092704.g001) licensed under a CC-BY license.Immunohistochemistry-Frozen: NOD2 Antibody (2D9) [NB100-524] - Overlay of NOD2-DyLight 488 (green) with phase contrast of murine colon. Image from verified customer review.

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

     1 Review

26 Publications
Glucosylceramidase/GBA Antibody (2E2)
H00002629-M01
Western Blot: Glucosylceramidase/GBA Antibody (2E2) [H00002629-M01] - Effect of Diltiazem on L444P and N370S/V394L GC Folding and Trafficking.Western blot analysis of untreated and diltiazem-treated L444P GC cells. L444P GC cells were cultured without or with diltiazem at varying concentrations for 7 d before the cells were lysed for SDS-PAGE and Western blot analysis. GC was detected using mouse anti-GC antibody 2E2. Beta-actin served as a loading control. Image collected and cropped by CiteAb from the following publication (//dx.plos.org/10.1371/journal.pbio.0060026) licensed under a CC-BY license.Immunocytochemistry/Immunofluorescence: Glucosylceramidase/GBA Antibody (2E2) [H00002629-M01] - Analysis of monoclonal antibody to GBA on HeLa cell. Antibody concentration 10 ug/ml.

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

     1 Review

10 Publications
Niemann-Pick type C1 Like-1 Antibody - BSA Free
NB400-128
Western Blot: Niemann-Pick type C1 Like-1 Antibody [NB400-128] - Detection of NPC3 in rat small intestine membrane preparations (20 ug). (1) 2 ug/ml and (2) 4 ug/ml. ECL: 30 minute exposure.Immunohistochemistry-Paraffin: Niemann-Pick type C1 Like-1 Antibody [NB400-128] - Staining of human small intestine, enterocytes.

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

25 Publications
Niemann-Pick type C2 Antibody
NBP1-84012
Immunohistochemistry-Paraffin: Niemann-Pick type C2 Antibody [NBP1-84012] - Analysis in human epididymis and skeletal muscle tissues. Corresponding NPC2 RNA-seq data are presented for the same tissues.Western Blot: Niemann-Pick type C2 Antibody [NBP1-84012] - Analysis in human cell lines U2OS and HeLa using Anti-NPC2 antibody. Corresponding NPC2 RNA-seq data are presented for the same cell lines. Loading control: Anti-COX4I1.

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

     1 Review

4 Publications
ARHGAP4 Antibody
NBP1-88527
Immunohistochemistry-Paraffin: ARHGAP4 Antibody [NBP1-88527] - Staining in human spleen and cerebral cortex tissues using anti-ARHGAP4 antibody. Corresponding ARHGAP4 RNA-seq data are presented for the same tissues.Immunohistochemistry-Paraffin: ARHGAP4 Antibody [NBP1-88527] - Staining of human colon, liver, lymph node and testis using Anti-ARHGAP4 antibody NBP1-88527 (A) shows similar protein distribution across tissues to independent antibody NBP1-88528 (B).

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

1 Publication
Niemann-Pick C1 Antibody - BSA Free
NB400-148
Western Blot: Niemann-Pick C1 Antibody - BSA Free [NB400-148] - NPC proteins in mouse lungs. Western blot of wild type (W) littermates, NPC1 (Mut) or NPC2 (Mut) mutant mouse lungs using anti-NPC1 or -NPC2 antibody. beta-actin used as a loading control. 30 ug protein/lane. Image collected and cropped by CiteAb from the following publication (https://dx.plos.org/10.1371/journal.pone.0067084), licensed under a CC-BY license.Immunocytochemistry/Immunofluorescence: Niemann-Pick C1 Antibody - BSA Free [NB400-148] - NPC1 antibody was tested in HeLa cells with DyLight 488 (green). Nuclei were counterstained with DAPI (blue).

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

     6 Reviews

54 Publications
beta Amyloid Antibody (MOAB-2) - BSA Free
NBP2-13075
IHC analysis of beta Amyloid on normal mouse brain (left) and 5xFAD mouse brain (right) using DAB with hematoxylin counterstain. The MOAB-2 antibody was used at 1:20 on normal mouse brain and at 1:400 on 5xFAD mouse brain.Analysis of beta Amyloid (MOAB-2) antibody in (1) 100 pmole beta Amyloid 42, (2) 5xFAD mouse brain homogenate Repetition 1 and (3) 5xFAD mouse brain homogenate Repetition 2.

Mouse Monoclonal
Species Human, Mouse, Rat
Applications WB, DB, ELISA

     2 Reviews

70 Publications
Tau Antibody (2E9)
NBP2-25162
Western Blot: Tau Antibody (2E9) [NBP2-25162] - Analysis of different tissue lysates using mouse mAb to MAP-tau, NBP2-25162, dilution 1:2,000 in green: [1] protein standard (red), [2] rat brain, [3] rat spinal cord, [4] mouse brain, [5] mouse spinal cord. Tau protein is expressed as up to 9 different isoforms of different molecular weight, and so appears as multiple closely spaced bands in the range from 48 kDa to 67 kDa in the CNS and including larger big tau forms in the PNS, visible in lane 5.Immunocytochemistry/Immunofluorescence: Tau Antibody (2E9) [NBP2-25162] - Analysis of cortical neuron-glial culture from E20 rat stained with mouse mAb to MAP-tau, NBP2-25162, dilution 1:1,000 in green, and costained with chicken pAb to MAP2, dilution 1:5,000 in red. The blue is DAPI staining of nuclear DNA. NBP2-25162 antibody stains perikarya, dendrites and axons of neurons, while MAP2 antibody labels only dendrites and perikarya. As a result, perikarya and dendrites appear orange-yellow, since they contain both proteins.

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

5 Publications
LDLR Antibody [Unconjugated]
AF2255
Western blot shows lysates of mouse liver tissue. PVDF membrane was probed with 0.1 µg/mL of Goat Anti-Mouse LDLR Antigen Affinity-purified Polyclonal Antibody (Catalog # AF2255) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=LDL R was detected in perfusion fixed frozen sections of mouse liver using Mouse LDL R Antigen Affinity-purified Polyclonal Antibody (Catalog # AF2255) at 15 µg/mL overnight at 4 °C. Tissue was stained using the Anti-Goat HRP-DAB Cell & Tissue Staining Kit (brown; Catalog # <a class=

Goat Polyclonal
Species Mouse
Applications WB, Flow, IHC

46 Publications
hnRNP C1 + C2 Antibody (CL2593)
NBP2-36776
Western Blot: hnRNP C1 + C2 Antibody (CL2593) [NBP2-36776] - Analysis in U-251MG cells transfected with control siRNA, target specific siRNA probe #1 and #2, using Anti-HNRNPC antibody. Remaining relative intensity is presented. Loading control: Anti-PPIB.Immunocytochemistry/Immunofluorescence: hnRNP C1 + C2 Antibody (CL2593) [NBP2-36776] - Staining in U2OS cell line with Anti-HNRNPC monoclonal antibody, showing distinct nuclear (without nucleoli) staining in green. Microtubule- and nuclear probes are visualized in red and blue respectively (where available). Antibody staining is shown in green.

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

CTLA-4 [Unconjugated]
7268-CT
Recombinant Human CTLA-4 Fc Chimera (Catalog # 7268-CT) inhibits IL-2 secretion by stimulated Jurkat human acute Tcell leukemia cells. The ED<sub>50</sub> for this effect is 0.03-0.15 μg/mL whenstimulated with 1 μg/mL Recombinant Human B7‑1/CD80 Fc Chimera (Catalog # <a class=


Species Human
Applications BA

3 Publications
TNF-alpha [Unconjugated]
210-TA
Recombinant Human TNF-alpha (Catalog # 210-TA) has a molecular weight (MW) of 53.1 kDa as analyzed by SEC-MALS, suggesting that this protein is a homotrimer.  MW may differ from predicted MW due to post-translational modifications (PTMs) present (i.e. Glycosylation).Recombinant Human TNF-alpha (Catalog # 210‑TA) induces cytotoxicity in the L-929 mouse fibroblast cell line in the presence of the metabolic inhibitor actinomycin D. The ED<sub>50</sub> for this effect is 25‑100 pg/mL.


Species Human
Applications BA

     3 Reviews

811 Publications
beta-Galactosidase-1/GLB1 Antibody (OTI1C9)
NBP2-45731
Western Blot: beta-Galactosidase-1/GLB1 Antibody (OTI1C9) [NBP2-45731] - Analysis of extracts (35ug) from 9 different cell lines by using anti-GLB1 monoclonal antibody (HepG2: human; HeLa: human; SVT2: mouse; A549: human; COS7: monkey; Jurkat: human; MDCK: canine; PC12: rat; MCF7: human).Immunohistochemistry: beta-Galactosidase-1/GLB1 Antibody (1C9) [NBP2-45731] - Analysis of Adenocarcinoma of Human ovary tissue. (Heat-induced epitope retrieval by 10mM citric buffer, pH6.0, 120C for 3min)

Mouse Monoclonal
Species Human, Canine, Monkey
Applications WB, IHC, IHC-P

6 Publications
SMPD1 Antibody (OTI3H7)
NBP2-45889
Western Blot: SMPD1 Antibody (3H7) [NBP2-45889] - Analysis of HEK293T cells were transfected with the pCMV6-ENTRY control (Left lane) or pCMV6-ENTRY SMPD1.Immunohistochemistry: SMPD1 Antibody (3H7) [NBP2-45889] - Analysis of Human tonsil tissue. (Heat-induced epitope retrieval by 1 mM EDTA in 10mM Tris, pH8.5, 120C for 3min)

Mouse Monoclonal
Species Human
Applications WB, IHC, IHC-Fr

4 Publications
Apolipoprotein A-I/ApoA1 Antibody - BSA Free
NBP2-52979
Immunocytochemistry/Immunofluorescence: Apolipoprotein A-I/ApoA1 Antibody - BSA Free [NBP2-52979] - HepG2 cells were fixed in 4% paraformaldehyde for 10 minutes and permeabilized in 0.05% Triton X-100 in PBS for 5 minutes. The cells were incubated with Apolipoprotein A-1/ApoA1 Antibody (NBP2-52979) at 1ug/ml overnight at 4C and detected with an anti-rabbit DyLight 488 (Green) at a 1:1000 dilution for 60 minutes. Nuclei were counterstained with DAPI (Blue). Cells were imaged using a 100X objective and digitally deconvolved.Western Blot: Apolipoprotein A-I/ApoA1 Antibody [NBP2-52979] - Western blot analysis using Apolipoprotein A-I/ApoA1 antibody. Harvested from mouse, separated on a 4-12 gradient gel by SDS-PAGE, transferred to PVDF membrane and blocked in 3% BSA/TBST. Probed with 1:8000 anti-apoA1 in 1%BSA/TBST, and detect edwith an anti-rabbit HRP secondary antibody using chemiluminescence. WB dilution 1: 8000, block before incubation overnight. Image from verified customer review.

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

     1 Review

GFAP Antibody
NB300-141
Immunohistochemistry: GFAP Antibody [NB300-141] - Analysis of a rat cerebellum section stained with rabbit polyclonal antibody to GFAP, NB300-141, dilution 1:5000 in green and mouse monoclonal antibody to MeCP2, dilution 1:500, in red. The blue is DAPI staining of nuclear DNA. Following transcardial perfusion of rat with 4% paraformaldehyde, brain was post fixed for 1 hour, cut to 45 uM, and free-floating sections were stained with above antibodies. The GFAP antibody stains the network of astrocytic cells and the processes of Bergmann glia in the molecular layer. The MeCP2 antibody specifically labels nuclei of certain neurons.Immunocytochemistry/Immunofluorescence: GFAP Antibody [NB300-141] - Rat neurons stained with Neurofilament Heavy antibody NB300-217 (red) and GFAP antibody NB300-141 (green).

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

     12 Reviews

108 Publications
ABCA1 Antibody - BSA Free
NB400-105
Formalin-fixed paraffin-embedded tissue sections of human prostate cancer were probed for ABCA1 mRNA (ACD RNAScope Probe, catalog # 432291; Fast Red chromogen, ACD catalog # 322360). Adjacent tissue section was processed for immunohistochemistry using rabbit polyclonal (Novus Biologicals catalog # NB400-105) at 1.5ug/mL with overnight incubation at 4 degrees Celsius followed by incubation with anti-rabbit IgG VisUCyte HRP Polymer Antibody (Catalog # VC003) and DAB chromogen (yellow-brown). Tissue was counterstained with hematoxylin (blue). Specific staining was localized to glandular cells.HSKMCs were transfected with scrambled siRNA (scr siRNA) or ABCA1 siRNA. The cells were lysed and ABCA1 (A) protein levels were quantified by immunoblotting. Image collected and cropped by CiteAb from the following publication (https://www.nature.com/articles/s41598-018-38014-3) licensed under under a CC-BY license.

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

     7 Reviews

408 Publications
HLA DQ/DR/DP Antibody (HLA-Pan/2967R) - Azide and BSA Free
NBP2-79843
Western Blot: HLA DQ/DR/DP Antibody (HLA-Pan/2967R) - Azide and BSA Free [NBP2-79843] - Western Blot Analysis of Ramos cell lysate using HLA DQ/DR/DP Antibody (HLA-Pan/2967R).Immunocytochemistry/Immunofluorescence: HLA DQ/DR/DP Antibody (HLA-Pan/2967R) - Azide and BSA Free [NBP2-79843] - Immunofluorescence staining of PFA-fixed Ramos cells. HLA DQ/DR/DP Recombinant Rabbit Monoclonal Antibody (HLA DQ/DR/DP/2967R) followed by goat anti-rabbit IgG-CF488 (green). Nuclei stained with RedDot.

Rabbit Monoclonal
Species Human
Applications WB, ELISA, Flow

PFDN4 Antibody - Azide and BSA Free
NBP2-93935
Western Blot: PFDN4 Antibody [NBP2-93935] - Analysis of extracts of various cell lines, using PFDN4 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: PFDN4 Antibody [NBP2-93935] - Analysis of C6 cells using PFDN4 at dilution of 1:100. Blue: DAPI for nuclear staining.

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


Related Genes

Niemann-pick Diseases has been researched against:

Related Pathways

Niemann-pick Diseases has been linked to:

Related Diseases

Niemann-pick Diseases has been studied in relation to diseases such as:

Related PTMs

Niemann-pick Diseases has been studied in relation to posttranslational modifications (PTMs) including:

Alternate Names

Niemann-pick Diseases is also known as Niemann Pick Disease, Niemann-pick Disease.