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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.

Niemann-pick Diseases 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 Niemann-pick Diseases 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 1714 products for the study of Niemann-pick Diseases that can be applied to Chromatin Immunoprecipitation, Flow Cytometry, Western Blot, Immunocytochemistry/Immunofluorescence, Immunohistochemistry from our catalog of antibodies and ELISA kits.

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

NB400-148
Knockout Validated: Niemann-Pick C1 Antibody [NB400-148] - Western blot shows lysates of HeLa human cervical epithelial carcinoma parental cell line and NPC1 knockout (KO) HeLa cell line. PVDF membrane was probed with 1:1000 of Rabbit Anti-Human NPC1 Polyclonal Antibody (Catalog # NB400-148) followed by HRP-conjugated Anti-Rabbit IgG Secondary Antibody (Catalog #HAF008). Specific band was detected for NPC1 at approximately 240-260 kDa (as indicated) in the parental HeLa cell line, but is not detectable in the knockout HeLa cell line. This experiment was conducted under reducing conditions.Western Blot: Niemann-Pick C1 Antibody [NB400-148] - Hela lysate, BHK lysate, A431 lysate tested at 1:1000. Image provided by verified customer review.

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

     3 Reviews

33 Publications
NBP1-84012
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.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.

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

     1 Review

3 Publications
NBP2-67656
Western Blot: hnRNP C1 + C2 Antibody (SN0652) [NBP2-67656] - Analysis of hnRNP C1+C2 on different lysates using anti-hnRNP C1+C2 antibody at 1/1,000 dilution. Positive control: Lane 1: Hela Lane 2: MCF-7 Lane 3: HepG2Immunocytochemistry/Immunofluorescence: hnRNP C1 + C2 Antibody (SN0652) [NBP2-67656] - Staining hnRNP C1+C2 in B16-F1 (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, Flow, ICC/IF

NBP1-88527
Western Blot: ARHGAP4 Antibody [NBP1-88527] - Western blot analysis in mouse cell line NIH-3T3, rat cell line NBT-II and rat cell line pC12.Immunohistochemistry-Paraffin: ARHGAP4 Antibody [NBP1-88527] - Staining of human spleen shows high expression.

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

1 Publication
NBP1-88526
Western Blot: PFDN4 Antibody [NBP1-88526] - Lane 1: Marker [kDa] 250, 130, 95, 72, 55, 36, 28, 17, 10. Lane 2: Negative control (vector only transfected HEK293T lysate). Lane 3: Over-expression lysate (Co-expressed with a C-terminal myc-DDK tag (3.1 kDa) in mammalian HEK293T cells).Immunohistochemistry-Paraffin: PFDN4 Antibody [NBP1-88526] - Staining of human tonsil shows strong cytoplasmic positivity in most cells.

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

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

NBP1-78159
Western Blot: LDL R Antibody (C7) [NBP1-78159] - Total protein from human HeLa and HepG2 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 0.5 ug/ml anti-LDL receptor in 1% non-fat milk in TBST and detected with an anti-mouse HRP secondary antibody using chemiluminescence.Immunocytochemistry/Immunofluorescence: LDL R Antibody (C7) [NBP1-78159] -  Image from a customer review on porcine intestinal epithelial cells IPEC-J2.

Mouse Monoclonal
Species Human, Rat, Porcine
Applications WB, EM, ELISA

     1 Review

17 Publications
H00002629-M01
Western Blot: Glucosylceramidase/GBA Antibody (2E2) [H00002629-M01] - GBA monoclonal antibody (M01), clone 2E2 Analysis of GBA expression in MCF-7.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
Applications WB, ELISA, ICC/IF

     1 Review

6 Publications
210-TA
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.1 µg/lane of Recombinant Human TNF-alpha  was resolved by SDS-PAGE with silver staining, under reducing (R) conditions, showing a band at 17 kDa.


Species Human

     21 Reviews

518 Publications
NB400-128
Western Blot: Niemann-Pick type C1 Like-1 Antibody [NB400-128] - Detection of NPC3 in rat small intestine membrane preparations (20 ug).  Lane 1: 2 ug/ml.  Lane 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

17 Publications
NB400-105
Western Blot: ABCA1 Antibody [NB400-105] - Western Blot analysis of ABCA1 in total cell lysates of RAW264.9 cells treated with vehicle (-) or 9-cisretinoic acid and 22Rhydroxycholesterol (+). Samples used for this testing were 40 ug of total cell post-nuclear lysate from each group.Western Blot: ABCA1 Antibody [NB400-105] - Detection of ABCA1 in mouse peritoneal macrophages using NB 400-105 (Lot L). ECL exposure, 1 min. Lane 4: T09 uninduced lysate Lane 5: T09 induced lysate.

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

     6 Reviews

272 Publications
NBP2-45731
Western Blot: beta-Galactosidase-1/GLB1 Antibody (1C9) [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

NB100-524
Western Blot: NOD2 Antibody (2D9) [NB100-524] - Total protein from human THP1 and US-OS cells and mouse Raw264.7 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-NOD2 in 1% non-fat milk in TBST and detected with an anti-mouse HRP secondary antibody using chemiluminescence.Immunocytochemistry/Immunofluorescence: NOD2 Antibody (2D9) [NB100-524] - A431 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-NOD2 (2D9) NB100-524 at a 1:200 dilution overnight at 4C and detected with an anti-mouse Dylight 488 (Green) at a 1:500 dilution. Actin was counterstained with Phalloidin 568 (Red) at a 1:200 dilution. Nuclei were counterstained with DAPI (Blue). Cells were imaged using a 40X objective.

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

     1 Review

13 Publications
NBP1-84550
Western Blot: HLA DQA1 Antibody [NBP1-84550] - Lane 1: Marker  [kDa] 250, 130, 100, 70, 55, 35, 25, 15, 10.  Lane 2: Human cell line Daudi.Immunohistochemistry-Paraffin: HLA DQA1 Antibody [NBP1-84550] - Staining of human lung shows high expression.

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

7268-CT


Species Human

     2 Reviews

1 Publication
NBP2-13075
Immunohistochemistry: beta Amyloid Antibody (MOAB-2) [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.Immunohistochemistry-Paraffin: beta Amyloid Antibody (MOAB-2) [NBP2-13075] - IHC analysis of a formalin fixed paraffin embedded tissue section of human brain (Alzheimers disease, hippocampus) using 1:200 dilution of anti-beta Amyloid antibody (clone MOAB-2). The staining was developed with HRP labeled anti-mouse secondary antibody and DAB reagent, and nuclei of cells were counter-stained with hematoxylin. This beta Amyloid antibody specifically stained the cells with Abeta 42/ Abeta aggregates while the normal cells were negative for abeta peptide.

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

12 Publications
NB600-609

Goat Polyclonal
Species Mouse
Applications WB, ELISA, ICC/IF

6 Publications
NB300-141
Immunocytochemistry/Immunofluorescence: GFAP Antibody [NB300-141] - ICC-IF analysis of mixed neuron-glial cultures using GFAP antibody NB300-141 (red) and Vimentin antibody NB300-223 (green). The fibroblastic cells contain only Vimentin and so are green.  The astrocytes contain either Vimentin and GFAP (appearing golden) or predominantly GFAP (appearing red). Blue is nuclear DNA stain.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

     4 Reviews

34 Publications

Related Genes

Niemann-pick Diseases has been researched against:

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.