Neurocutaneous Syndrome Related Research Tools
Neurocutaneous syndromes represent a heterogeneous group of genetic disorders characterized by abnormalities of the cutaneous and nervous systems. Neurofibromatosis type I (NF1), Tuberous sclerosis complex (TSC), and Sturge-Weber syndrome (SWS) are the three prototypical neurocutaneous disorders in which genetic mutations in the pathways regulating cell growth cause developmental dysfunctions of the brain, skin, and other organs. Possible contributors and molecular pathways involved in the three common neurocutaneous disorders are shown in Fig.1.
Fig.1 The scheme of the RAS/MAPK and mTOR pathways. (Stafstrom, 2017)
The mTOR signaling pathway begins at the cell membrane, where the receptors respond to growth factors and nutrient/energy molecules. Phosphatidylinositol triphosphate 3-kinase (PI3K) activates protein kinase B (AKT), a serine/threonine-specific protein kinase, and potent pro-survival and pro-oncogenic proteins. AKT directly phosphorylates TSC2 and inhibits its function. TSC2 inactivation by AKT reduces Ras homolog enriched in brain (Rheb). Overexpression of Rheb due to aTSC1 or TSC2 mutation leads to increased mTOR activation and excessive cell growth and proliferation.
Summary of the Popular Objects in Neurocutaneous Syndromes
Based on both unique molecular pathways for each syndrome and commonalities among syndromes, targeted therapies are emerging from the understanding of neurocutaneous disorders at the molecular level. Some key factors that may lead to neuronal hyperexcitability in these neurocutaneous disorders are listed in the table below.
PLC | PKC | Ras | Raf |
TSC1 | TSC2 | NF1 | NF2 |
MEK | ERK | GANQ | ELFN1 |
PI3K | AKT | Rheb | FKBP38 |
Creative Biolabs offers comprehensive products as well as high-quality customized services for our clients, such as neural cell lines, specialty media, cytokines, small molecule inhibitors, recombinant proteins, ready-to-use antibodies or commercial products, etc. We also provide animal models for our clients. We have the best products for the popular targets to aid your disease research.
Reference
- Stafstrom, C. E.; et al. Epilepsy mechanisms in neurocutaneous disorders: tuberous sclerosis complex, neurofibromatosis type 1, and Sturge-Weber syndrome. Frontiers in neurology. 2017, 8: 87.
Target
- Host Species:
- Mouse
- Species Reactivity:
- Human
- Applications:
- WB; IP; IF; ELISA
- Conjugation:
- Unconjugated; APC; PE; HRP; Biotin; FITC; Alexa Fluor 488; Alexa Fluor 700; Alexa Fluor 647; Alexa Fluor 750; Alexa Fluor 594; Alexa Fluor 350; Alexa Fluor 2751
- NeuroMab™ Anti-Tau Antibody(NRP-0422-P1684) (Cat#: NRP-0422-P1684)
- NeuroMab™ Anti-Tau Antibody(NRP-0422-P1683) (Cat#: NRP-0422-P1683)
- NeuroMab™ Rabbit Anti-Alpha-synuclein (CBP1631) (Cat#: NAB-08-PZ079)
- Tau Monoclonal Antibody (AT120, HT7 and BT2 clone) (Cat#: NK-2106-P008)
- NeuroMab™ Anti-Tau Antibody(NRP-0422-P1686) (Cat#: NRP-0422-P1686)
- NeuroMab™ Anti-pTau Antibody(NRP-0422-P1719) (Cat#: NRP-0422-P1719)
- NeuroMab™ Anti-Amyloid Beta 1-15 Antibody(NRP-0422-P867) (Cat#: NRP-0422-P867)
- NeuroMab™ Anti-Integrin αvβ8 BBB Shuttle Antibody(NRZP-1222-ZP1218) (Cat#: NRZP-1222-ZP1218)
- NeuroMab™ Anti-TNFα BBB Shuttle Antibody(NRZP-1022-ZP4105) (Cat#: NRZP-1022-ZP4105)
- NeuroMab™ Anti-CD32b Antibody(NRP-0422-P1803) (Cat#: NRP-0422-P1803)
- Green Fluorescent Alpha-synuclein SH-SY5Y Cell Line (Cat#: NCL2110P209)
- Human CMEC/D3 Cell Line, Blood-Brain Barrier Model (Cat#: NCL-2108-P020)
- Human Astrocytes, Immortalized (Cat#: NCL-2105-P182-AM)
- Human Retinal Epithelial Cell ARPE-19 (Cat#: NCL2110P069)
- Human Microglia Cell Line HMC3, Immortalized (Cat#: NCL-2108P38)
- Sf295 Human Glioblastoma Cells (Cat#: NCL-2108P180)
- Human Brain Microvascular Endothelial Cells (Cat#: NCL-2103-P133)
- Mouse Retinal Ganglion Cell Line RGC-5 (Cat#: NCL2110P154)
- Mouse Microglia N9 (Cat#: NCL2110P073)
- Human Astrocytes (Cat#: NCC20-9PZ01)
- Human Poly ADP ribose polymerase,PARP Assay Kit (Cat#: NRZP-1122-ZP62)
- Amyloid beta 1-42 Kit (Cat#: NRP-0322-P2170)
- Alpha-Synuclein Aggregation Assay Kit (Cat#: NRZP-1122-ZP37)
- Human Tau Aggregation Kit (Cat#: NRP-0322-P2173)
- Alpha Synuclein Aggregation Kit (Cat#: NRZP-1122-ZP15)
- Human GFAP ELISA Kit [Colorimetric] (Cat#: NPP2011ZP383)
- Beta Amyloid (1-42), Aggregation Kit (Cat#: NRZP-0323-ZP200)
- Beta Amyloid (1-40), Aggregation Kit, TTF Assay (Cat#: NRZP-0323-ZP199)
- AAV-EF1a-mCherry-flex-dtA (Cat#: NRZP-0622-ZP616)
- pAAV-syn-jGCaMP8s-WPRE (Cat#: NTA-2106-P063)
- AAV-mDLX-CRE-tdTomato (Cat#: NRZP-0622-ZP721)
- pAAV-syn-FLEX-jGCaMP8m-WPRE (Cat#: NTA-2106-P065)
- pAAV-EF1a-DIO-EGFP-WPRE (Cat#: NTA-2012AD-P285)
- rAAV-E-SARE-Cre-ERT2-PEST-WPRE-hGH polyA (Cat#: NTA-2010-TT342)
- Dextran, NHS Activated, 40 kDa (Cat#: NRZP-0722-ZP124)
- AAV2/9-hEF1a-fDIO-eNpHR 3.0-mCherry-WPRE-pA (Cat#: NTA-2012-ZP78)
- Dextran, Cy5 Labeled, 2000 kDa (Cat#: NRZP-0722-ZP22)
- pAAV-syn-FLEX-jGCaMP8f-WPRE (Cat#: NTA-2106-P064)
- Human presenilin 1 (PSEN1), transcript variant 2 (NM_007318) ORF clone, TurboGFP Tagged (Cat#: NEP-0421-R0140)
- Mouse SOD1 shRNA Silencing Adenovirus (Cat#: NV-2106-P14)
- ABCA1 Antisense Oligonucleotide (NV-2106-P27) (Cat#: NV-2106-P27)
- Human superoxide dismutase 3, extracellular (SOD3) (NM_003102) ORF clone, Untagged (Cat#: NEP-0521-R0808)
- App Rat amyloid beta (A4) precursor protein (App)(NM_019288) ORF clone, Untagged (Cat#: NEP-0421-R0053)
- Human huntingtin (HTT) (NM_002111) ORF clone, Myc-DDK Tagged (Cat#: NEP-0521-R0497)
- Lenti of Mouse synuclein, alpha (Snca) transcript variant (NM_001042451) ORF clone, mGFP Tagged (Cat#: NEP-0521-R0864)
- Tau Antisense Oligonucleotide (IONIS-MAPTRx) (Cat#: NV-2106-P29)
- Human apolipoprotein E (APOE) (NM_000041) ORF clone, Untagged (Cat#: NEP-0421-R0232)
- Rat Parkinson disease (autosomal recessive, juvenile) 2, parkin (Park2) (NM_020093) ORF clone/lentiviral particle, Myc-DDK Tagged (Cat#: NEP-0621-R0041)
- NeuroBiologics™ Monkey Cerebrospinal Fluid (Cat#: NRZP-0822-ZP495)
- NeuroBiologics™ Mouse Cerebrospinal Fluid (Cat#: NRZP-0822-ZP497)
- NeuroBiologics™ Rat Cerebrospinal Fluid (Cat#: NRZP-0822-ZP496)
- NeuroBiologics™ Pig Cerebrospinal Fluid (Cat#: NRZP-0822-ZP498)
- NeuroBiologics™ Human Cerebrospinal Fluid (Cat#: NRZP-0822-ZP491)
- NeuroPro™ Anti-PON1 BBB Shuttle Protein (Cat#: NRZP-0423-ZP507)
- NeuroPro™ Anti-ASA BBB Shuttle Protein (Cat#: NRZP-0423-ZP504)
- NeuroPro™ Anti-TNFR BBB Shuttle Protein (Cat#: NRZP-0423-ZP501)
- NeuroPro™ Anti-NAGLU BBB Shuttle Protein (Cat#: NRZP-0423-ZP506)
- NeuroPro™ Anti-GDNF BBB Shuttle Protein (Cat#: NRZP-0423-ZP509)
- NeuroPro™ Anti-IDUA BBB Shuttle Protein (Cat#: NRZP-0423-ZP502)
- NeuroPro™ Anti-EPO BBB Shuttle Protein (Cat#: NRZP-0423-ZP508)
- NeuroPro™ Anti-Erythropoietin BBB Shuttle Protein (Cat#: NRZP-0423-ZP499)
- NeuroPro™ Anti-IDUA BBB Shuttle Protein (Cat#: NRZP-0423-ZP498)
- NeuroPro™ Anti-IDS BBB Shuttle Protein (Cat#: NRZP-0423-ZP503)