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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 2005 products for the study of Niemann-pick Diseases that can be applied to Western Blot, Chromatin Immunoprecipitation, Immunocytochemistry/Immunofluorescence, Flow Cytometry, 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 from verified customer review.

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

     5 Reviews

35 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 colon.

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

NBP1-88526
Western Blot: PFDN4 Antibody [NBP1-88526] - Analysis in control (vector only transfected HEK293T lysate) and PFDN4 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

NB100-82245
Western Blot: Tau [p Thr181] Antibody [NB100-82245] - Analysis of extracts from mouse brain tissue using Tau(Phospho-Thr181) Antibody and the same antibody preincubated with blocking peptide.Immunohistochemistry-Paraffin: Tau [p Thr181] Antibody [NB100-82245] - analysis of paraffin-embedded rat hippocampal region tissue from a model with Alzheimer's Disease using Tau (phospho-Thr181) antibody.

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

     1 Review

1 Publication
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

18 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, Plant
Applications WB, ELISA, ICC/IF

     1 Review

7 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

     24 Reviews

609 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). (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

22 Publications
NB400-105
Dual RNAscope ISH-IHC: ABCA1 Antibody [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.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.

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

     6 Reviews

313 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

2 Publications
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 X-100. 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

16 Publications
NBP2-45041
Flow Cytometry: HLA DQ Antibody (SPV-L3) [NBP2-45041] - Flow Cytometric Analysis of Raji cells. HLA DQ Antibody (SPV-L3) followed by goat anti-Mouse IgG-CF488 (Blue); Isotype Control (Red).

Mouse Monoclonal
Species Human, Porcine
Applications Flow, IHC, IHC-Fr

1 Publication
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

     3 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.Immunocytochemistry/Immunofluorescence: beta Amyloid Antibody (MOAB-2) [NBP2-13075] - Immunofluorescent detection of beta Amyloid with MOAB-2 in the subiculim of 1-, 2- and 4- month old 5xFAD mice.  Scale bar 20 um (from PMID: 22423893).

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

     1 Review

22 Publications
NBP2-52979
Western Blot: Apolipoprotein A-I/ApoA1 Antibody [NBP2-52979] - Total protein from HepG2 and Hek293 cells was separated on a 4-15% gradient gel by SDS-PAGE, transferred to PVDF membrane and blocked in 5% non-fat milk in TBST. The membrane was probed with 1.0 ug/ml anti-APOA1 in 1% milk, and detected with an anti-rabbit HRP secondary antibody using chemiluminescence.Immunocytochemistry/Immunofluorescence: Apolipoprotein A-I/ApoA1 Antibody [NBP2-52979] - HepG2 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-APOA1 at a 1:200 dilution 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, Mouse
Applications WB, Flow, ICC/IF

NB300-141
Immunocytochemistry/Immunofluorescence: GFAP Antibody [NB300-141] - 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

     5 Reviews

41 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.