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
![](static/images/loading3.gif)
![](static/images/product/product-icon-neural-antibodies.png)
FDFT1 Rabbit Monoclonal Antibody
- Host Species:
- Rabbit
- Species Reactivity:
- Human
- Applications:
- ICC; IF; WB; IP
- 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 2254
![](static/images/product/product-icon-neural-antibodies.png)
FDFT1 Rabbit Monoclonal Antibody
- Host Species:
- Rabbit
- Species Reactivity:
- Mouse; Rat; Human
- Applications:
- IP; IHC-P; WB; ICC; IF
- 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 2229
- NeuroMab™ Anti-EPHB2 Antibody(NRP-0422-P1220) (Cat#: NRP-0422-P1220)
- NeuroMab™ Anti-PVRIG Antibody(NRP-0422-P515) (Cat#: NRP-0422-P515)
- NeuroMab™ Anti-PVRIG Antibody(NRP-0422-P792) (Cat#: NRP-0422-P792)
- Mouse Anti-SCN5A Monoclonal Antibody (CBP708) (Cat#: NAB-0720-Z2720)
- NeuroMab™ Mouse Anti-LRP1 Monoclonal Antibody (CBP3363) (Cat#: NAB-0720-Z6479)
- NeuroMab™ Anti-Tau Antibody(NRP-0422-P2293) (Cat#: NRP-0422-P2293)
- NeuroMab™ Anti-Alpha Synuclein Antibody(NRP-0422-P614) (Cat#: NRP-0422-P614)
- NeuroMab™ Anti-TNFα BBB Shuttle Antibody(NRZP-1022-ZP4105) (Cat#: NRZP-1022-ZP4105)
- NeuroMab™ Anti-Tau Antibody(NRP-0422-P1760) (Cat#: NRP-0422-P1760)
- NeuroMab™ Anti-PVRIG Antibody(NRP-0422-P1803) (Cat#: NRP-0422-P1803)
- Human Dental Pulp Stem Cells (Cat#: NRZP-1122-ZP113)
- iNeu™ Retinal Pigment Epithelial Cells (RPE) (Cat#: NRZP-0323-ZP92)
- Rat Microglia Cell Line HAPI, Immortalized (Cat#: NCL2110P015)
- Rat Muller Cell (Cat#: NCL2110P040)
- iNeu™ Human Motor Neurons (Cat#: NCL-2103-P71)
- Human Glioblastoma Cell Line SF126 (Cat#: NCL-2108P35)
- iNeu™ Microglia (Cat#: NCL-7P018)
- Human Neurons Isolated from Cortex (Cat#: NCL-21P6-023)
- Rat Glioma Cell Line C6 (Cat#: NCL2110P346)
- Human Microglia Cell Line HMC3, Immortalized (Cat#: NCL-2108P38)
- Beta Amyloid (1-40), Aggregation Kit, TTF Assay (Cat#: NRZP-0323-ZP199)
- Beta Amyloid (1-42), Aggregation Kit (Cat#: NRZP-0323-ZP200)
- Human Tau Aggregation Kit (Cat#: NRP-0322-P2173)
- Human GFAP ELISA Kit [Colorimetric] (Cat#: NPP2011ZP383)
- Amyloid beta 1-42 Kit (Cat#: NRP-0322-P2170)
- Alpha-Synuclein Aggregation Assay Kit (Cat#: NRZP-1122-ZP37)
- Alpha Synuclein Aggregation Kit (Cat#: NRZP-1122-ZP15)
- Human Poly ADP ribose polymerase,PARP Assay Kit (Cat#: NRZP-1122-ZP62)
- VSV-eGFP (Cat#: NTA-2011-ZP20)
- pAAV-syn-jGCaMP8m-WPRE (Cat#: NTA-2106-P062)
- PRV-CAG-EGFP (Cat#: NTA-2011-ZP14)
- AAV2/2Retro-CAG-DIO-EGFP-2A-TetTox-pA [Neural Tracing] (Cat#: NTA-2012-ZP303)
- pAAV-EF1a-DIO-EGFP-WPRE (Cat#: NTA-2012AD-P285)
- pAAV-hSyn-DIO-XCaMP-R-WPRE (Cat#: NTA-2012AD-P508)
- Dextran, NHS Activated, 40 kDa (Cat#: NRZP-0722-ZP124)
- pAAV-syn-jGCaMP8f-WPRE (Cat#: NTA-2106-P061)
- pAAV-syn-FLEX-jGCaMP8s-WPRE (Cat#: NTA-2106-P066)
- Dextran-CYanine5.5 (Cat#: NTA-2011-ZP118)
- Human huntingtin (HTT) (NM_002111) ORF clone, Myc-DDK Tagged (Cat#: NEP-0521-R0497)
- Human apolipoprotein E (APOE) (NM_000041) ORF clone, Untagged (Cat#: NEP-0421-R0232)
- ABCA1 Antisense Oligonucleotide (NV-2106-P27) (Cat#: NV-2106-P27)
- Lenti of Mouse synuclein, alpha (Snca) transcript variant (NM_001042451) ORF clone, mGFP Tagged (Cat#: NEP-0521-R0864)
- Human superoxide dismutase 1, soluble (SOD1) (NM_000454) ORF clone, TurboGFP Tagged (Cat#: NEP-0521-R0748)
- Rat Parkinson disease (autosomal recessive, juvenile) 2, parkin (Park2) (NM_020093) ORF clone/lentiviral particle, Myc-DDK Tagged (Cat#: NEP-0621-R0041)
- Tau Antisense Oligonucleotide (IONIS-MAPTRx) (Cat#: NV-2106-P29)
- App Rat amyloid beta (A4) precursor protein (App)(NM_019288) ORF clone, Untagged (Cat#: NEP-0421-R0053)
- Lenti of Human TAR DNA binding protein (TARDBP) (NM_007375) ORF clone, mGFP Tagged (Cat#: NEP-0521-R0832)
- Mouse Parkinson disease (autosomal recessive, early onset) 7 (Park7) (NM_020569) clone, Untagged (Cat#: NEP-0621-R0133)
- NeuroBiologics™ Rat Cerebrospinal Fluid (Cat#: NRZP-0822-ZP496)
- NeuroBiologics™ Human Cerebrospinal Fluid (Cat#: NRZP-0822-ZP491)
- NeuroBiologics™ Monkey Cerebrospinal Fluid (Cat#: NRZP-0822-ZP495)
- NeuroBiologics™ Pig Cerebrospinal Fluid (Cat#: NRZP-0822-ZP498)
- NeuroBiologics™ Mouse Cerebrospinal Fluid (Cat#: NRZP-0822-ZP497)
- NeuroPro™ Anti-ASA BBB Shuttle Protein (Cat#: NRZP-0423-ZP504)
- NeuroPro™ Anti-IDUA BBB Shuttle Protein (Cat#: NRZP-0423-ZP502)
- NeuroPro™ Anti-SGSH BBB Shuttle Protein (Cat#: NRZP-0423-ZP505)
- NeuroPro™ Anti-TNFR BBB Shuttle Protein (Cat#: NRZP-0423-ZP510)
- NeuroPro™ Anti-EPO BBB Shuttle Protein (Cat#: NRZP-0423-ZP508)
- NeuroPro™ Anti-GDNF BBB Shuttle Protein (Cat#: NRZP-0423-ZP500)
- NeuroPro™ Anti-Erythropoietin BBB Shuttle Protein (Cat#: NRZP-0423-ZP499)
- NeuroPro™ Anti-GDNF BBB Shuttle Protein (Cat#: NRZP-0423-ZP509)
- NeuroPro™ Anti-NAGLU BBB Shuttle Protein (Cat#: NRZP-0423-ZP506)
- NeuroPro™ Anti-IDUA BBB Shuttle Protein (Cat#: NRZP-0423-ZP498)