ALS Therapeutic Target Characterization Assay
Creative Biolabs offers comprehensive service that encompasses an array of aspects, from identifying potential therapeutic targets to elucidating cellular processes implicated in Amyotrophic Lateral Sclerosis (ALS) pathogenesis.
Highlighted ALS Therapeutic Targets
Creative Biolabs provides an extensive array of characterization assays targeting ALS-associated genes, aiming to address diverse facets of ALS pathogenesis. The following is a compilation of gene targets currently under investigation for potential ALS therapeutic interventions:
- C9orf72
- SOD1
- FUS
- TARDBP (TDP-43)
- Ataxin-2 (ATXN2)
- TBK1
- VCP
- PFN1
- OPTN
- MATR3
- UNC13A
Target Characterization Assays at Creative Biolabs
Some of ALS targets undergo various post-translational modifications, including phosphorylation, ubiquitination, and cleavage.
Abnormal modifications can lead to aggregation into insoluble protein aggregates, a hallmark of ALS and FTLD pathology.
In ALS and FTLD, protein aggregates are commonly found in the cytoplasm of affected neurons. Aggregated proteins are often hyperphosphorylated and ubiquitinated, contributing to their misfolding and accumulation.
Proteins are normally localized in the nucleus, where they participate in RNA-related processes. In ALS disease, these proteins can translocate to the cytoplasm and form pathological aggregates. We provide nucleo-cytoplasmic transport assay and mislocalization assay to confirm the localization of specific proteins.
Most ALS targets bind to RNA and regulate the splicing patterns of various genes. Dysregulation of RNA processing due to gene dysfunction can contribute to neurodegenerative processes.
Stress granules are cellular structures that form in response to various stressors, such as oxidative stress or cellular damage, and are implicated in ALS and other neurodegenerative diseases.
Highlighted Targets Characterization
Characterizing the proteins associated with ALS is crucial for understanding the molecular mechanisms underlying the disease. Here's a brief overview of our protein characterization for some key ALS-associated genes:
Target | Introduction | Characterization Assays |
---|---|---|
SOD1 | SOD1 encodes a cytoplasmic antioxidant enzyme involved in protecting cells from oxidative stress. |
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C9orf72 | C9orf72 mutations involve a hexanucleotide repeat expansion in an intronic region, leading to RNA toxicity and protein aggregation. |
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TDP-43 | TDP-43 is an RNA-binding protein that plays a role in RNA metabolism and is associated with ALS and Frontotemporal Dementia (FTD). |
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FUS | FUS is another RNA-binding protein associated with ALS and forms pathological cytoplasmic inclusions. |
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Optineurin (OPTN) and UBQLN2 | Mutations in these genes are linked to familial ALS |
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PFN1 | Mutations in PFN1 have been associated with ALS. |
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