Amyotrophic lateral sclerosis
GtoPdb Disease Summaries
This section gives an overview of the disease, and where available shows the following:
- Synonyms: Shows known synonyms for the disease.
- Description: Gives a basic description/definition of the disease.
- Database Link: External links to the same disease at the Disease Ontology, OMIM or Orphanet sites.
- Immunopharmacology comments: General comments about the target's role in immunopharmacology, provided by GtoImmuPdb curators.
- Associated with: Counts are displayed for the total targets the disease is associated with in GtoPdb. The counts of targets and ligands of immunological relevance associated to the disease are also shown.
More information can be found in the help pages.
✖| Disease ID: | 61 | |
| Name: | Amyotrophic lateral sclerosis | |
| Associated with: | 3 targets | |
Targets
GtoPdb Disease Summaries - Targets
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖| C5a1 receptor | |
| Comments: | In both the SODG93A and NFL-/- mouse models of ALS, C5aR is upregulated. The upregulation occurs in the presymptomatic stages of the NFL-/- model and the author observed this upregulation within motor neurons. However, in the SODG93A model, there is no early upregulation of C5aR within motor neurons, the upregulation occurs in the end stages of the model within motor neurons and astrocytes. The link between C5aR upregulation and ALS pathology has only been confirmed in the SODG93A model, where blockade of C5aR signalling with orally administered PMX205 increased survival and motor performance. |
| References: | 1-2,4 |
| Liver X receptor-α |
| NIMA related kinase 1 | |
| Role: | Loss of function NEK1 mutations and the Arg261His NEK1 variant have been identified as genetic factors which confer susceptibility to familial and sporadic amyotrophic lateral sclerosis. These risk variants were detected in 3% of ALS cases tested. |
| References: | 3 |
Ligands
GtoPdb Disease Summaries - Ligands
Click ligand name to view ligand summary page
- Approved: If the ligand is an approved drug this is indicated, along with approval bodies.
- Immuno: Immuno icon indicates the ligand is immuno-relevant
Click the arrow in the final column to expand comments
- Immuno Disease Comments: Curatorial comments specifically added as part of GtoImmuPdb. They give more information on the association between the ligand and disease in the context of immunopharmacology.
- Clinical Use: General clinical comments relating to the ligand and may not necessarily be specific to the disease in question. With hyperlink to more details on the ligand summary pages.
- Bioactivty Comments: Curatorial comments specifically about the compounds biological activity - with hyperlink to more details on the ligand summary pages.
More information can be found in the help pages.
✖No ligand related data available for Amyotrophic lateral sclerosis
References
1. Ferraiuolo L, Heath PR, Holden H, Kasher P, Kirby J, Shaw PJ. (2007) Microarray analysis of the cellular pathways involved in the adaptation to and progression of motor neuron injury in the SOD1 G93A mouse model of familial ALS. J Neurosci, 27 (34): 9201-19. [PMID:17715356]
2. Humayun S, Gohar M, Volkening K, Moisse K, Leystra-Lantz C, Mepham J, McLean J, Strong MJ. (2009) The complement factor C5a receptor is upregulated in NFL-/- mouse motor neurons. J Neuroimmunol, 210 (1-2): 52-62. [PMID:19286267]
3. Kenna KP, van Doormaal PT, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, van Rheenen W, van Eijk KR, Jones AR, Keagle P et al.. (2016) NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nat Genet, 48 (9): 1037-42. [PMID:27455347]
4. Woodruff TM, Costantini KJ, Crane JW, Atkin JD, Monk PN, Taylor SM, Noakes PG. (2008) The complement factor C5a contributes to pathology in a rat model of amyotrophic lateral sclerosis. J Immunol, 181 (12): 8727-34. [PMID:19050293]
